LINC02891 (long intergenic non-protein coding RNA 2891)

Gene: LINC02891 (long intergenic non-protein coding RNA 2891) Homo sapiens

Analyze

Symbol:

LINC02891

Name:

long intergenic non-protein coding RNA 2891

RGD ID:

16558669

HGNC Page

HGNC:55221

Description:

ASSOCIATED WITH Autism; autistic disorder; chromosome 22q11.2 deletion syndrome, distal

Type:

ncrna (Ensembl: lncRNA)

RefSeq Status:

VALIDATED

Previously known as:

AC007663.2; lnc-RTN4R-1; LOC284865; uncharacterized LOC284865

Allele / Splice:

See ClinVar data

Latest Assembly:

GRCh38.p14 Ensembl - Human Genome Assembly GRCh38 Ensembl

Position:

Human Assembly	Chr	Position (strand)	Source	Genome Browsers
Human Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCh38	22	20,198,729 - 20,204,918 (-)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	22	20,198,729 - 20,204,918 (-)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	22	20,186,252 - 20,192,441 (-)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Cytogenetic Map	22	q11.21	NCBI
HuRef	22	3,805,511 - 3,811,699 (-)	NCBI		HuRef
CHM1_1	22	20,185,810 - 20,191,986 (-)	NCBI		CHM1_1
T2T-CHM13v2.0	22	20,578,441 - 20,584,631 (-)	NCBI		T2T-CHM13v2.0

JBrowse:

View Region in Genome Browser (JBrowse)

Model

Annotation Click to see Annotation Detail View

Disease Annotations Click to see Annotation Detail View

autistic disorder (IAGP)

chromosome 22q11.2 deletion syndrome, distal (IAGP)

chromosome 22q11.2 microduplication syndrome (IAGP)

DiGeorge syndrome (IAGP)

schizophrenia (IAGP)

velocardiofacial syndrome (IAGP)

Phenotype Annotations Click to see Annotation Detail View

Human Phenotype

Autism (IAGP)

Schizophrenia (IAGP)

References

Additional References at PubMed

PMID:11181995	PMID:14702039	PMID:27650541

Genomics

Clinical Variants

Name	Type	Condition(s)	Position(s)	Clinical significance
GRCh38/hg38 22q11.21(chr22:18339130-21086225)x1	copy number loss	See cases [RCV000148101]	Chr22:18339130..21086225 [GRCh38] Chr22:18706001..21440514 [GRCh37] Chr22:17086001..19770514 [NCBI36] Chr22:22q11.21	pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-21454720)x3	copy number gain	See cases [RCV000148102]	Chr22:18339130..21454720 [GRCh38] Chr22:18919942..21809009 [GRCh37] Chr22:17299942..20139009 [NCBI36] Chr22:22q11.21	pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-21151128)x3	copy number gain	See cases [RCV000148103]	Chr22:18339130..21151128 [GRCh38] Chr22:18919942..21505417 [GRCh37] Chr22:17299942..19835417 [NCBI36] Chr22:22q11.21	pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-21207225)x1	copy number loss	See cases [RCV000148160]	Chr22:18339130..21207225 [GRCh38] Chr22:18919942..21561514 [GRCh37] Chr22:17299942..19891514 [NCBI36] Chr22:22q11.21	pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-20343532)x1	copy number loss	See cases [RCV000148287]	Chr22:18339130..20343532 [GRCh38] Chr22:18706001..20659606 [GRCh37] Chr22:17086001..18989606 [NCBI36] Chr22:22q11.21	pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-21151128)x1	copy number loss	See cases [RCV000050550]	Chr22:18339130..21151128 [GRCh38] Chr22:18706001..21505417 [GRCh37] Chr22:17086001..19835417 [NCBI36] Chr22:22q11.21	pathogenic\|conflicting interpretations of pathogenicity\|conflicting data from submitters
GRCh38/hg38 22q11.21(chr22:18339130-21086225)x3	copy number gain	See cases [RCV000050991]	Chr22:18339130..21086225 [GRCh38] Chr22:18919942..21440514 [GRCh37] Chr22:17299942..19770514 [NCBI36] Chr22:22q11.21	pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-21450597)x1	copy number loss	See cases [RCV000141677]	Chr22:18339130..21450597 [GRCh38] Chr22:18916842..21804886 [GRCh37] Chr22:17296842..20134886 [NCBI36] Chr22:22q11.21	pathogenic
GRCh38/hg38 22q11.21(chr22:18157962-21111370)x3	copy number gain	See cases [RCV000141737]	Chr22:18157962..21111370 [GRCh38] Chr22:18640729..21465659 [GRCh37] Chr22:17020729..19795659 [NCBI36] Chr22:22q11.21	pathogenic
GRCh38/hg38 22q11.21(chr22:18145252-21151128)x1	copy number loss	See cases [RCV000051272]	Chr22:18145252..21151128 [GRCh38] Chr22:18628019..21505417 [GRCh37] Chr22:17008019..19835417 [NCBI36] Chr22:22q11.21	pathogenic
GRCh38/hg38 22q11.21(chr22:18188862-21182552)x1	copy number loss	See cases [RCV000051286]	Chr22:18188862..21182552 [GRCh38] Chr22:18671629..21536841 [GRCh37] Chr22:17051629..19866841 [NCBI36] Chr22:22q11.21	pathogenic
GRCh38/hg38 22q11.21(chr22:18902758-20340590)x1	copy number loss	See cases [RCV000051300]	Chr22:18902758..20340590 [GRCh38] Chr22:18890271..20328113 [GRCh37] Chr22:17270271..18708113 [NCBI36] Chr22:22q11.21	pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-21151269)x1	copy number loss	See cases [RCV000051328]	Chr22:18339130..21151269 [GRCh38] Chr22:18919742..21505558 [GRCh37] Chr22:17299742..19835558 [NCBI36] Chr22:22q11.21	pathogenic
GRCh38/hg38 22q11.21(chr22:18389245-21086225)x1	copy number loss	See cases [RCV000133643]	Chr22:18389245..21086225 [GRCh38] Chr22:20659547..21440514 [GRCh37] Chr22:18989547..19770514 [NCBI36] Chr22:22q11.21	uncertain significance
GRCh38/hg38 22q11.1-11.21(chr22:16916608-20343532)x3	copy number gain	See cases [RCV000133682]	Chr22:16916608..20343532 [GRCh38] Chr22:17397498..20659606 [GRCh37] Chr22:15777498..18989606 [NCBI36] Chr22:22q11.1-11.21	pathogenic
GRCh38/hg38 22q11.1-11.21(chr22:16916608-20354644)x1	copy number loss	See cases [RCV000133786]	Chr22:16916608..20354644 [GRCh38] Chr22:17397498..20708934 [GRCh37] Chr22:15777498..19038934 [NCBI36] Chr22:22q11.1-11.21	pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-20671425)x1	copy number loss	See cases [RCV000053003]	Chr22:18339130..20671425 [GRCh38] Chr22:18919942..21025713 [GRCh37] Chr22:17299942..19355713 [NCBI36] Chr22:22q11.21	pathogenic
GRCh38/hg38 22q11.21(chr22:18932429-20324240)x1	copy number loss	See cases [RCV000053004]	Chr22:18932429..20324240 [GRCh38] Chr22:18919942..20311763 [GRCh37] Chr22:17299942..18691763 [NCBI36] Chr22:22q11.21	pathogenic\|conflicting interpretations of pathogenicity\|conflicting data from submitters
GRCh38/hg38 22q11.21(chr22:18339130-20641963)x1	copy number loss	See cases [RCV000053025]	Chr22:18339130..20641963 [GRCh38] Chr22:18938161..20996250 [GRCh37] Chr22:17318161..19326250 [NCBI36] Chr22:22q11.21	pathogenic
GRCh38/hg38 22q11.21(chr22:18907322-20250683)x1	copy number loss	See cases [RCV000134515]	Chr22:18907322..20250683 [GRCh38] Chr22:18894835..20238206 [GRCh37] Chr22:17274835..18618206 [NCBI36] Chr22:22q11.21	pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-21107463)x3	copy number gain	See cases [RCV000134519]	Chr22:18339130..21107463 [GRCh38] Chr22:18894835..21461752 [GRCh37] Chr22:22q11.21	pathogenic
GRCh38/hg38 22q11.1-13.33(chr22:16916743-50739785)x3	copy number gain	See cases [RCV000134730]	Chr22:16916743..50739785 [GRCh38] Chr22:17397633..51178213 [GRCh37] Chr22:15777633..49525079 [NCBI36] Chr22:22q11.1-13.33	pathogenic
GRCh38/hg38 22q11.21(chr22:18145252-21109830)x1	copy number loss	See cases [RCV000137985]	Chr22:18145252..21109830 [GRCh38] Chr22:18628019..21464119 [GRCh37] Chr22:17008019..19794119 [NCBI36] Chr22:22q11.21	pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-20343532)x1	copy number loss	See cases [RCV000142546]	Chr22:18339130..20343532 [GRCh38] Chr22:18919942..20659606 [GRCh37] Chr22:17299942..18989606 [NCBI36] Chr22:22q11.21	pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-21307146)x1	copy number loss	See cases [RCV000142734]	Chr22:18339130..21307146 [GRCh38] Chr22:18765085..21661435 [GRCh37] Chr22:17145085..19991435 [NCBI36] Chr22:22q11.21	pathogenic
GRCh38/hg38 22q11.21(chr22:18178957-21454720)x1	copy number loss	See cases [RCV000142783]	Chr22:18178957..21454720 [GRCh38] Chr22:18661724..21809009 [GRCh37] Chr22:17041724..20139009 [NCBI36] Chr22:22q11.21	pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-21151128)x3	copy number gain	See cases [RCV000051937]	Chr22:18339130..21151128 [GRCh38] Chr22:18890271..21505417 [GRCh37] Chr22:17270271..19835417 [NCBI36] Chr22:22q11.21	pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-21101267)x3	copy number gain	See cases [RCV000051942]	Chr22:18339130..21101267 [GRCh38] Chr22:18950766..21455556 [GRCh37] Chr22:17330766..19785556 [NCBI36] Chr22:22q11.21	pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-20588575)x3	copy number gain	See cases [RCV000051943]	Chr22:18339130..20588575 [GRCh38] Chr22:19168758..20942862 [GRCh37] Chr22:17519027..19272862 [NCBI36] Chr22:22q11.21	pathogenic
GRCh38/hg38 22q11.21(chr22:18178957-21307146)x3	copy number gain	See cases [RCV000136518]	Chr22:18178957..21307146 [GRCh38] Chr22:18661724..21661435 [GRCh37] Chr22:17041724..19991435 [NCBI36] Chr22:22q11.21	pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-21151128)x1	copy number loss	See cases [RCV000136527]	Chr22:18339130..21151128 [GRCh38] Chr22:20311704..21505417 [GRCh37] Chr22:18691704..19835417 [NCBI36] Chr22:22q11.21	uncertain significance
GRCh38/hg38 22q11.21(chr22:18339130-21111370)x1	copy number loss	See cases [RCV000143293]	Chr22:18339130..21111370 [GRCh38] Chr22:18876630..21465659 [GRCh37] Chr22:17256630..19795659 [NCBI36] Chr22:22q11.21	pathogenic
NC_000022.11:g.(?_18163926)_(21277123_?)del	deletion	Schizophrenia [RCV000754242]	Chr22:18163926..21277123 [GRCh38] Chr22:22q11.21	pathogenic
Single allele	duplication	Autism [RCV000754249]	Chr22:18904453..21277123 [GRCh38] Chr22:22q11.21	pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-21111370)x3	copy number gain	See cases [RCV000143391]	Chr22:18339130..21111370 [GRCh38] Chr22:18916828..21465659 [GRCh37] Chr22:17296828..19795659 [NCBI36] Chr22:22q11.21	pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-21111373)x1	copy number loss	See cases [RCV000143442]	Chr22:18339130..21111373 [GRCh38] Chr22:18970561..21465662 [GRCh37] Chr22:17350561..19795662 [NCBI36] Chr22:22q11.21	pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-20671425)x1	copy number loss	See cases [RCV000050290]	Chr22:18339130..20671425 [GRCh38] Chr22:18706001..21025713 [GRCh37] Chr22:17086001..19355713 [NCBI36] Chr22:22q11.21	pathogenic
GRCh38/hg38 22q11.21(chr22:18932229-20324381)x3	copy number gain	See cases [RCV000051941]	Chr22:18932229..20324381 [GRCh38] Chr22:18919742..20311904 [GRCh37] Chr22:17299742..18691904 [NCBI36] Chr22:22q11.21	pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-21207225)x3	copy number gain	See cases [RCV000051944]	Chr22:18339130..21207225 [GRCh38] Chr22:20402633..21561514 [GRCh37] Chr22:18782633..19891514 [NCBI36] Chr22:22q11.21	pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-21086225)x1	copy number loss	See cases [RCV000136677]	Chr22:18339130..21086225 [GRCh38] Chr22:19058829..21440514 [GRCh37] Chr22:17438829..19770514 [NCBI36] Chr22:22q11.21	pathogenic
GRCh38/hg38 22q11.1-11.21(chr22:16916608-20324240)x1	copy number loss	See cases [RCV000050859]	Chr22:16916608..20324240 [GRCh38] Chr22:17397498..20311763 [GRCh37] Chr22:15777498..18691763 [NCBI36] Chr22:22q11.1-11.21	pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-21086225)x3	copy number gain	See cases [RCV000051023]	Chr22:18339130..21086225 [GRCh38] Chr22:18706001..21440514 [GRCh37] Chr22:17086001..19770514 [NCBI36] Chr22:22q11.21	pathogenic
GRCh38/hg38 22q11.21(chr22:18886943-20318794)x1	copy number loss	See cases [RCV000051299]	Chr22:18886943..20318794 [GRCh38] Chr22:18874456..20306317 [GRCh37] Chr22:17254456..18686317 [NCBI36] Chr22:22q11.21	pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-21086225)x1	copy number loss	See cases [RCV000051324]	Chr22:18339130..21086225 [GRCh38] Chr22:18896972..21440514 [GRCh37] Chr22:17276972..19770514 [NCBI36] Chr22:22q11.21	pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-21086366)x1	copy number loss	See cases [RCV000051325]	Chr22:18339130..21086366 [GRCh38] Chr22:18919742..21440655 [GRCh37] Chr22:17299742..19770655 [NCBI36] Chr22:22q11.21	pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-21151128)x1	copy number loss	See cases [RCV000050388]	Chr22:18339130..21151128 [GRCh38] Chr22:18919942..21505417 [GRCh37] Chr22:17299942..19835417 [NCBI36] Chr22:22q11.21	pathogenic\|conflicting interpretations of pathogenicity\|conflicting data from submitters
GRCh38/hg38 22q11.21(chr22:18339130-21454720)x3	copy number gain	See cases [RCV000050628]	Chr22:18339130..21454720 [GRCh38] Chr22:18919942..21809009 [GRCh37] Chr22:17299942..20139009 [NCBI36] Chr22:22q11.21	pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-20343532)x3	copy number gain	See cases [RCV000050729]	Chr22:18339130..20343532 [GRCh38] Chr22:18919942..20659606 [GRCh37] Chr22:17299942..18989606 [NCBI36] Chr22:22q11.21	pathogenic
GRCh38/hg38 22q11.21(chr22:18909459-20324240)x1	copy number loss	See cases [RCV000136832]	Chr22:18909459..20324240 [GRCh38] Chr22:18896972..20311763 [GRCh37] Chr22:17276972..18691763 [NCBI36] Chr22:22q11.21	pathogenic
GRCh38/hg38 22q11.1-11.21(chr22:16538125-20363937)x1	copy number loss	See cases [RCV000051270]	Chr22:16538125..20363937 [GRCh38] Chr22:17019015..20718227 [GRCh37] Chr22:15399015..19048227 [NCBI36] Chr22:22q11.1-11.21	pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-21151128)x3	copy number gain	See cases [RCV000133887]	Chr22:18339130..21151128 [GRCh38] Chr22:18894835..21505417 [GRCh37] Chr22:17274835..19835417 [NCBI36] Chr22:22q11.21	pathogenic\|conflicting data from submitters
GRCh38/hg38 22q11.21(chr22:18177786-21101267)x1	copy number loss	See cases [RCV000051278]	Chr22:18177786..21101267 [GRCh38] Chr22:18660553..21455556 [GRCh37] Chr22:17040553..19785556 [NCBI36] Chr22:22q11.21	pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-21454720)x1	copy number loss	See cases [RCV000051298]	Chr22:18339130..21454720 [GRCh38] Chr22:18706001..21809009 [GRCh37] Chr22:17086001..20139009 [NCBI36] Chr22:22q11.21	pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-21107522)x1	copy number loss	See cases [RCV000051301]	Chr22:18339130..21107522 [GRCh38] Chr22:18890271..21461811 [GRCh37] Chr22:17270271..19791811 [NCBI36] Chr22:22q11.21	pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-20343532)x1	copy number loss	See cases [RCV000051319]	Chr22:18339130..20343532 [GRCh38] Chr22:18890271..20659606 [GRCh37] Chr22:17270271..18989606 [NCBI36] Chr22:22q11.21	pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-21086225)x3	copy number gain	See cases [RCV000051323]	Chr22:18339130..21086225 [GRCh38] Chr22:18896972..21440514 [GRCh37] Chr22:17276972..19770514 [NCBI36] Chr22:22q11.21	pathogenic
GRCh38/hg38 22q11.21(chr22:18389245-21086225)x3	copy number gain	See cases [RCV000133642]	Chr22:18389245..21086225 [GRCh38] Chr22:20659547..21440514 [GRCh37] Chr22:18989547..19770514 [NCBI36] Chr22:22q11.21	uncertain significance
GRCh38/hg38 22q11.21(chr22:18178932-21151156)x3	copy number gain	See cases [RCV000134128]	Chr22:18178932..21151156 [GRCh38] Chr22:18661699..21505445 [GRCh37] Chr22:17041699..19835445 [NCBI36] Chr22:22q11.21	pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-21151128)x4	copy number gain	See cases [RCV000133889]	Chr22:18339130..21151128 [GRCh38] Chr22:18894835..21505417 [GRCh37] Chr22:17274835..19835417 [NCBI36] Chr22:22q11.21	pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-21151128)x1	copy number loss	See cases [RCV000133890]	Chr22:18339130..21151128 [GRCh38] Chr22:18894835..21505417 [GRCh37] Chr22:17274835..19835417 [NCBI36] Chr22:22q11.21	pathogenic\|conflicting interpretations of pathogenicity\|conflicting data from submitters
GRCh38/hg38 22q11.21(chr22:18339130-20343532)x1	copy number loss	See cases [RCV000133998]	Chr22:18339130..20343532 [GRCh38] Chr22:18894835..20659606 [GRCh37] Chr22:17274835..18989606 [NCBI36] Chr22:22q11.21	pathogenic\|conflicting interpretations of pathogenicity\|conflicting data from submitters
GRCh38/hg38 22q11.21(chr22:18339130-21151269)x1	copy number loss	See cases [RCV000053006]	Chr22:18339130..21151269 [GRCh38] Chr22:18919942..21505558 [GRCh37] Chr22:17299942..19835558 [NCBI36] Chr22:22q11.21	pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-21151128)x1	copy number loss	See cases [RCV000053032]	Chr22:18339130..21151128 [GRCh38] Chr22:19029602..21505417 [GRCh37] Chr22:17409602..19835417 [NCBI36] Chr22:22q11.21	pathogenic
GRCh38/hg38 22q11.21(chr22:18168847-21086166)x3	copy number gain	See cases [RCV000135308]	Chr22:18168847..21086166 [GRCh38] Chr22:18651614..21440455 [GRCh37] Chr22:17031614..19770455 [NCBI36] Chr22:22q11.21	pathogenic
GRCh38/hg38 22q11.21-11.22(chr22:18178932-22562620)x3	copy number gain	See cases [RCV000139316]	Chr22:18178932..22562620 [GRCh38] Chr22:18661699..22905025 [GRCh37] Chr22:17041699..21235025 [NCBI36] Chr22:22q11.21-11.22	pathogenic
GRCh38/hg38 22q11.21(chr22:18932429-20324240)x1	copy number loss	See cases [RCV000148168]	Chr22:18932429..20324240 [GRCh38] Chr22:18919942..20311763 [GRCh37] Chr22:17299942..18691763 [NCBI36] Chr22:22q11.21	pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-21111373)x3	copy number gain	See cases [RCV000139955]	Chr22:18339130..21111373 [GRCh38] Chr22:18916828..21465662 [GRCh37] Chr22:22q11.21	pathogenic
GRCh38/hg38 22q11.21(chr22:18178957-21107463)x3	copy number gain	See cases [RCV000141416]	Chr22:18178957..21107463 [GRCh38] Chr22:18661724..21461752 [GRCh37] Chr22:17041724..19791752 [NCBI36] Chr22:22q11.21	pathogenic
GRCh38/hg38 22q11.21(chr22:18389245-21151128)x1	copy number loss	See cases [RCV000142670]	Chr22:18389245..21151128 [GRCh38] Chr22:20659547..21505417 [GRCh37] Chr22:18989547..19835417 [NCBI36] Chr22:22q11.21	uncertain significance
NC_000022.11:g.(?_18159879)_(21362822_?)del	deletion	Schizophrenia [RCV000754240]	Chr22:18159879..21362822 [GRCh38] Chr22:22q11.21	pathogenic
NC_000022.11:g.(?_18846939)_(21221413_?)del	deletion	Schizophrenia [RCV000754245]	Chr22:18846939..21221413 [GRCh38] Chr22:22q11.21	pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-21111373)x1	copy number loss	See cases [RCV000143362]	Chr22:18339130..21111373 [GRCh38] Chr22:18916827..21465662 [GRCh37] Chr22:17296827..19795662 [NCBI36] Chr22:22q11.21	pathogenic
Single allele	duplication	Autism [RCV000754250]	Chr22:19295635..21510330 [GRCh38] Chr22:22q11.21	pathogenic
GRCh38/hg38 22q11.21(chr22:18929329-20325138)x3	copy number gain	See cases [RCV000143506]	Chr22:18929329..20325138 [GRCh38] Chr22:18916842..20312661 [GRCh37] Chr22:17296842..18692661 [NCBI36] Chr22:22q11.21	pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-21447315)x3	copy number gain	See cases [RCV000142641]	Chr22:18339130..21447315 [GRCh38] Chr22:18919942..21801604 [GRCh37] Chr22:17299942..20131604 [NCBI36] Chr22:22q11.21	pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-21086225)x1	copy number loss	See cases [RCV000148136]	Chr22:18339130..21086225 [GRCh38] Chr22:18919942..21440514 [GRCh37] Chr22:17299942..19770514 [NCBI36] Chr22:22q11.21	pathogenic
GRCh38/hg38 22q11.21(chr22:18178957-21207225)x1	copy number loss	See cases [RCV000148186]	Chr22:18178957..21207225 [GRCh38] Chr22:18661724..21561514 [GRCh37] Chr22:17041724..19891514 [NCBI36] Chr22:22q11.21	pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-21111373)x1	copy number loss	See cases [RCV000143225]	Chr22:18339130..21111373 [GRCh38] Chr22:18916842..21465662 [GRCh37] Chr22:17296842..19795662 [NCBI36] Chr22:22q11.21	pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-21111370)x1	copy number loss	See cases [RCV000143234]	Chr22:18339130..21111370 [GRCh38] Chr22:18916842..21465659 [GRCh37] Chr22:17296842..19795659 [NCBI36] Chr22:22q11.21	pathogenic
GRCh38/hg38 22q11.21(chr22:18178957-21107522)x1	copy number loss	See cases [RCV000137504]	Chr22:18178957..21107522 [GRCh38] Chr22:18661724..21461811 [GRCh37] Chr22:17041724..19791811 [NCBI36] Chr22:22q11.21	pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-21101210)x1	copy number loss	See cases [RCV000140773]	Chr22:18339130..21101210 [GRCh38] Chr22:18999803..21455499 [GRCh37] Chr22:17379803..19785499 [NCBI36] Chr22:22q11.21	pathogenic
NC_000022.11:g.(?_18832909)_(21123588_?)del	deletion	Schizophrenia [RCV000754244]	Chr22:18832909..21123588 [GRCh38] Chr22:22q11.21	pathogenic
NC_000022.11:g.(?_18880919)_(20346734_?)del	deletion	Schizophrenia [RCV000754246]	Chr22:18880919..20346734 [GRCh38] Chr22:22q11.21	pathogenic
NC_000022.11:g.(?_18880919)_(21123588_?)del	deletion	Schizophrenia [RCV000754247]	Chr22:18880919..21123588 [GRCh38] Chr22:22q11.21	pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-21086225)x3	copy number gain	See cases [RCV000051940]	Chr22:18339130..21086225 [GRCh38] Chr22:18909038..21440514 [GRCh37] Chr22:17289038..19770514 [NCBI36] Chr22:22q11.21	pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-21101267)x3	copy number gain	See cases [RCV000053012]	Chr22:18339130..21101267 [GRCh38] Chr22:18938161..21455556 [GRCh37] Chr22:17318161..19785556 [NCBI36] Chr22:22q11.21	pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-21454720)x3	copy number gain	See cases [RCV000138187]	Chr22:18339130..21454720 [GRCh38] Chr22:18894835..21809009 [GRCh37] Chr22:17274835..20139009 [NCBI36] Chr22:22q11.21	pathogenic\|conflicting data from submitters
GRCh38/hg38 22q11.21(chr22:18929315-20325138)x3	copy number gain	See cases [RCV000140932]	Chr22:18929315..20325138 [GRCh38] Chr22:18916828..20312661 [GRCh37] Chr22:17296828..18692661 [NCBI36] Chr22:22q11.21	pathogenic
GRCh38/hg38 22q11.21-11.23(chr22:18339130-23480799)x1	copy number loss	See cases [RCV000141233]	Chr22:18339130..23480799 [GRCh38] Chr22:20279766..23822986 [GRCh37] Chr22:18659766..22152986 [NCBI36] Chr22:22q11.21-11.23	pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-21207225)x3	copy number gain	See cases [RCV000148047]	Chr22:18339130..21207225 [GRCh38] Chr22:18919942..21561514 [GRCh37] Chr22:17299942..19891514 [NCBI36] Chr22:22q11.21	pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-20671425)x1	copy number loss	See cases [RCV000148086]	Chr22:18339130..20671425 [GRCh38] Chr22:18706001..21025713 [GRCh37] Chr22:17086001..19355713 [NCBI36] Chr22:22q11.21	pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-21151128)x1	copy number loss	See cases [RCV000148104]	Chr22:18339130..21151128 [GRCh38] Chr22:18919942..21505417 [GRCh37] Chr22:17299942..19835417 [NCBI36] Chr22:22q11.21	pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-21056995)x3	copy number gain	See cases [RCV000051919]	Chr22:18339130..21056995 [GRCh38] Chr22:18704554..21411284 [GRCh37] Chr22:17084554..19741284 [NCBI36] Chr22:22q11.21	pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-21207381)x3	copy number gain	See cases [RCV000051920]	Chr22:18339130..21207381 [GRCh38] Chr22:18705801..21561670 [GRCh37] Chr22:17085801..19891670 [NCBI36] Chr22:22q11.21	pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-21207225)x3	copy number gain	See cases [RCV000051938]	Chr22:18339130..21207225 [GRCh38] Chr22:18890271..21561514 [GRCh37] Chr22:17270271..19891514 [NCBI36] Chr22:22q11.21	pathogenic
GRCh38/hg38 22q11.21(chr22:18145252-21151128)x1	copy number loss	See cases [RCV000148178]	Chr22:18145252..21151128 [GRCh38] Chr22:18628019..21505417 [GRCh37] Chr22:17008019..19835417 [NCBI36] Chr22:22q11.21	pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-21086225)x3	copy number gain	See cases [RCV000148206]	Chr22:18339130..21086225 [GRCh38] Chr22:18919942..21440514 [GRCh37] Chr22:17299942..19770514 [NCBI36] Chr22:22q11.21	pathogenic
GRCh38/hg38 22q11.21(chr22:18718488-20324240)x1	copy number loss	See cases [RCV000136577]	Chr22:18718488..20324240 [GRCh38] Chr22:18706001..20311763 [GRCh37] Chr22:17086001..18691763 [NCBI36] Chr22:22q11.21	pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-21441926)x1	copy number loss	See cases [RCV000136758]	Chr22:18339130..21441926 [GRCh38] Chr22:18891526..21796215 [GRCh37] Chr22:17271526..20126215 [NCBI36] Chr22:22q11.21	pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-21454720)x1	copy number loss	See cases [RCV000050630]	Chr22:18339130..21454720 [GRCh38] Chr22:18919942..21809009 [GRCh37] Chr22:17299942..20139009 [NCBI36] Chr22:22q11.21	pathogenic
GRCh38/hg38 22q11.21(chr22:18169870-21559889)x3	copy number gain	See cases [RCV000051918]	Chr22:18169870..21559889 [GRCh38] Chr22:18652637..21914178 [GRCh37] Chr22:17032637..20244178 [NCBI36] Chr22:22q11.21	pathogenic
GRCh38/hg38 22q11.21(chr22:18178957-20324240)x3	copy number gain	See cases [RCV000051158]	Chr22:18178957..20324240 [GRCh38] Chr22:18661724..20311763 [GRCh37] Chr22:17041724..18691763 [NCBI36] Chr22:22q11.21	pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-20980781)x1	copy number loss	See cases [RCV000141782]	Chr22:18339130..20980781 [GRCh38] Chr22:20277314..21335070 [GRCh37] Chr22:18657314..19665070 [NCBI36] Chr22:22q11.21	uncertain significance
GRCh38/hg38 22q11.21(chr22:18177786-21101267)x3	copy number gain	See cases [RCV000051276]	Chr22:18177786..21101267 [GRCh38] Chr22:18660553..21455556 [GRCh37] Chr22:17040553..19785556 [NCBI36] Chr22:22q11.21	pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-21040441)x1	copy number loss	See cases [RCV000051321]	Chr22:18339130..21040441 [GRCh38] Chr22:18890271..21394730 [GRCh37] Chr22:17270271..19724730 [NCBI36] Chr22:22q11.21	pathogenic
GRCh38/hg38 22q11.1-13.33(chr22:16916608-50739836)x3	copy number gain	See cases [RCV000133646]	Chr22:16916608..50739836 [GRCh38] Chr22:17397498..51178264 [GRCh37] Chr22:15777498..49525130 [NCBI36] Chr22:22q11.1-13.33	pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-21028664)x1	copy number loss	See cases [RCV000136808]	Chr22:18339130..21028664 [GRCh38] Chr22:18896972..21382953 [GRCh37] Chr22:17276972..19712953 [NCBI36] Chr22:22q11.21	pathogenic
GRCh38/hg38 22q11.21(chr22:18929329-20325138)x1	copy number loss	See cases [RCV000141906]	Chr22:18929329..20325138 [GRCh38] Chr22:18916842..20312661 [GRCh37] Chr22:22q11.21	pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-20686726)x1	copy number loss	See cases [RCV000141972]	Chr22:18339130..20686726 [GRCh38] Chr22:18916828..21041014 [GRCh37] Chr22:17296828..19371014 [NCBI36] Chr22:22q11.21	pathogenic
GRCh38/hg38 22q11.21(chr22:18929329-20324335)x1	copy number loss	See cases [RCV000141995]	Chr22:18929329..20324335 [GRCh38] Chr22:18916842..20311858 [GRCh37] Chr22:17296842..18691858 [NCBI36] Chr22:22q11.21	pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-21207225)x1	copy number loss	See cases [RCV000133881]	Chr22:18339130..21207225 [GRCh38] Chr22:18894835..21561514 [GRCh37] Chr22:17274835..19891514 [NCBI36] Chr22:22q11.21	pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-21086226)x3	copy number gain	See cases [RCV000134084]	Chr22:18339130..21086226 [GRCh38] Chr22:18894820..21440515 [GRCh37] Chr22:17274820..19770515 [NCBI36] Chr22:22q11.21	pathogenic
GRCh38/hg38 22q11.1-11.23(chr22:16916608-24358936)x3	copy number gain	See cases [RCV000053104]	Chr22:16916608..24358936 [GRCh38] Chr22:17397498..24754904 [GRCh37] Chr22:15777498..23084904 [NCBI36] Chr22:22q11.1-11.23	pathogenic
GRCh38/hg38 22q11.21(chr22:18907322-20324261)x3	copy number gain	See cases [RCV000138026]	Chr22:18907322..20324261 [GRCh38] Chr22:18894835..20311784 [GRCh37] Chr22:17274835..18691784 [NCBI36] Chr22:22q11.21	pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-21107522)x1	copy number loss	See cases [RCV000138169]	Chr22:18339130..21107522 [GRCh38] Chr22:18894835..21461811 [GRCh37] Chr22:17274835..19791811 [NCBI36] Chr22:22q11.21	pathogenic
NC_000022.11:g.18948676_21110520dup	duplication	Chromosome 22q11.2 microduplication syndrome [RCV003313910]	Chr22:18948676..21110520 [GRCh38] Chr22:22q11.21	pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-21086225)x1	copy number loss	See cases [RCV000051024]	Chr22:18339130..21086225 [GRCh38] Chr22:18706001..21440514 [GRCh37] Chr22:17086001..19770514 [NCBI36] Chr22:22q11.21	pathogenic
GRCh38/hg38 22q11.21(chr22:18178957-21151128)x1	copy number loss	See cases [RCV000051171]	Chr22:18178957..21151128 [GRCh38] Chr22:18661724..21505417 [GRCh37] Chr22:17041724..19835417 [NCBI36] Chr22:22q11.21	pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-21151269)x1	copy number loss	See cases [RCV000051295]	Chr22:18339130..21151269 [GRCh38] Chr22:18705801..21505558 [GRCh37] Chr22:17085801..19835558 [NCBI36] Chr22:22q11.21	pathogenic
GRCh38/hg38 22q11.21(chr22:18145052-21086366)x1	copy number loss	See cases [RCV000051271]	Chr22:18145052..21086366 [GRCh38] Chr22:18627819..21440655 [GRCh37] Chr22:17007819..19770655 [NCBI36] Chr22:22q11.21	pathogenic
GRCh38/hg38 22q11.21(chr22:18950648-20241494)x1	copy number loss	See cases [RCV000053009]	Chr22:18950648..20241494 [GRCh38] Chr22:18938161..20229017 [GRCh37] Chr22:17318161..18609017 [NCBI36] Chr22:22q11.21	pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-21101267)x1	copy number loss	See cases [RCV000053015]	Chr22:18339130..21101267 [GRCh38] Chr22:18938161..21455556 [GRCh37] Chr22:17318161..19785556 [NCBI36] Chr22:22q11.21	pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-21101267)x1	copy number loss	See cases [RCV000053027]	Chr22:18339130..21101267 [GRCh38] Chr22:18962313..21455556 [GRCh37] Chr22:17342313..19785556 [NCBI36] Chr22:22q11.21	pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-21101267)x1	copy number loss	See cases [RCV000053029]	Chr22:18339130..21101267 [GRCh38] Chr22:18999803..21455556 [GRCh37] Chr22:17379803..19785556 [NCBI36] Chr22:22q11.21	pathogenic
GRCh38/hg38 22q11.21(chr22:18389245-21454720)x3	copy number gain	See cases [RCV000137927]	Chr22:18389245..21454720 [GRCh38] Chr22:20659547..21809009 [GRCh37] Chr22:18989547..20139009 [NCBI36] Chr22:22q11.21	uncertain significance
GRCh38/hg38 22q11.21(chr22:18339130-21109830)x1	copy number loss	See cases [RCV000137960]	Chr22:18339130..21109830 [GRCh38] Chr22:18894835..21464119 [GRCh37] Chr22:17274835..19794119 [NCBI36] Chr22:22q11.21	pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-21109830)x1	copy number loss	See cases [RCV000138354]	Chr22:18339130..21109830 [GRCh38] Chr22:18706001..21464119 [GRCh37] Chr22:17086001..19794119 [NCBI36] Chr22:22q11.21	pathogenic\|conflicting data from submitters
GRCh38/hg38 22q11.21(chr22:18339130-21151156)x3	copy number gain	See cases [RCV000139000]	Chr22:18339130..21151156 [GRCh38] Chr22:18894820..21505445 [GRCh37] Chr22:17274820..19835445 [NCBI36] Chr22:22q11.21	pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-21151128)x1	copy number loss	See cases [RCV000148100]	Chr22:18339130..21151128 [GRCh38] Chr22:18706001..21505417 [GRCh37] Chr22:17086001..19835417 [NCBI36] Chr22:22q11.21	pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-21109830)x1	copy number loss	See cases [RCV000140853]	Chr22:18339130..21109830 [GRCh38] Chr22:19035323..21464119 [GRCh37] Chr22:17415323..19794119 [NCBI36] Chr22:22q11.21	pathogenic
GRCh38/hg38 22q11.21(chr22:18166089-21111373)x1	copy number loss	See cases [RCV000142253]	Chr22:18166089..21111373 [GRCh38] Chr22:18648856..21465662 [GRCh37] Chr22:17028856..19795662 [NCBI36] Chr22:22q11.21	pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-21111370)x3	copy number gain	See cases [RCV000143229]	Chr22:18339130..21111370 [GRCh38] Chr22:18916842..21465659 [GRCh37] Chr22:22q11.21	pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-21207225)x3	copy number gain	See cases [RCV000135456]	Chr22:18339130..21207225 [GRCh38] Chr22:19058829..21561514 [GRCh37] Chr22:17438829..19891514 [NCBI36] Chr22:22q11.21	pathogenic
GRCh38/hg38 22q11.21(chr22:18932429-20324240)x3	copy number gain	See cases [RCV000135733]	Chr22:18932429..20324240 [GRCh38] Chr22:18919942..20311763 [GRCh37] Chr22:17299942..18691763 [NCBI36] Chr22:22q11.21	pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-21003834)x3	copy number gain	See cases [RCV000135898]	Chr22:18339130..21003834 [GRCh38] Chr22:18908832..21358123 [GRCh37] Chr22:17288832..19688123 [NCBI36] Chr22:22q11.21	pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-21444466)x3	copy number gain	See cases [RCV000051939]	Chr22:18339130..21444466 [GRCh38] Chr22:18909038..21798755 [GRCh37] Chr22:17289038..20128755 [NCBI36] Chr22:22q11.21	pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-21107522)x1	copy number loss	See cases [RCV000053047]	Chr22:18339130..21107522 [GRCh38] Chr22:19035017..21461811 [GRCh37] Chr22:17415017..19791811 [NCBI36] Chr22:22q11.21	pathogenic
GRCh38/hg38 22q11.21(chr22:18178957-21109830)x1	copy number loss	See cases [RCV000138671]	Chr22:18178957..21109830 [GRCh38] Chr22:18661724..21464119 [GRCh37] Chr22:17041724..19794119 [NCBI36] Chr22:22q11.21	pathogenic
GRCh38/hg38 22q11.21(chr22:18178957-21086225)x1	copy number loss	See cases [RCV000148098]	Chr22:18178957..21086225 [GRCh38] Chr22:18661724..21440514 [GRCh37] Chr22:17041724..19770514 [NCBI36] Chr22:22q11.21	pathogenic
GRCh38/hg38 22q11.21(chr22:18178957-21151128)x3	copy number gain	See cases [RCV000148257]	Chr22:18178957..21151128 [GRCh38] Chr22:18661724..21505417 [GRCh37] Chr22:17041724..19835417 [NCBI36] Chr22:22q11.21	pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-21111370)x1	copy number loss	See cases [RCV000141704]	Chr22:18339130..21111370 [GRCh38] Chr22:18916828..21465659 [GRCh37] Chr22:22q11.21	pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-21111370)x1	copy number loss	See cases [RCV000142073]	Chr22:18339130..21111370 [GRCh38] Chr22:19024656..21465659 [GRCh37] Chr22:17404656..19795659 [NCBI36] Chr22:22q11.21	pathogenic
GRCh38/hg38 22q11.21(chr22:18161474-21111373)x1	copy number loss	See cases [RCV000142151]	Chr22:18161474..21111373 [GRCh38] Chr22:18644241..21465662 [GRCh37] Chr22:17024241..19795662 [NCBI36] Chr22:22q11.21	pathogenic
GRCh38/hg38 22q11.21(chr22:18389245-21109830)x1	copy number loss	See cases [RCV000142988]	Chr22:18389245..21109830 [GRCh38] Chr22:20659547..21464119 [GRCh37] Chr22:18989547..19794119 [NCBI36] Chr22:22q11.21	likely pathogenic\|uncertain significance
GRCh38/hg38 22q11.21(chr22:18339130-21111373)x1	copy number loss	See cases [RCV000143126]	Chr22:18339130..21111373 [GRCh38] Chr22:18916828..21465662 [GRCh37] Chr22:17296828..19795662 [NCBI36] Chr22:22q11.21	pathogenic
NC_000022.11:g.(?_18159879)_(21387988_?)del	deletion	Schizophrenia [RCV000754241]	Chr22:18159879..21387988 [GRCh38] Chr22:22q11.21	pathogenic
NC_000022.11:g.(?_18802709)_(21343709_?)del	deletion	Schizophrenia [RCV000754243]	Chr22:18802709..21343709 [GRCh38] Chr22:22q11.21	pathogenic
Single allele	duplication	Autism [RCV000754248]	Chr22:18904453..20324329 [GRCh38] Chr22:22q11.21	pathogenic
GRCh38/hg38 22q11.21(chr22:18178957-21086225)x3	copy number gain	See cases [RCV000135519]	Chr22:18178957..21086225 [GRCh38] Chr22:18661724..21440514 [GRCh37] Chr22:17041724..19770514 [NCBI36] Chr22:22q11.21	pathogenic
GRCh38/hg38 22q11.21(chr22:18178957-20343532)x1	copy number loss	See cases [RCV000135619]	Chr22:18178957..20343532 [GRCh38] Chr22:18661724..20659606 [GRCh37] Chr22:17041724..18989606 [NCBI36] Chr22:22q11.21	pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-21207225)x3	copy number gain	See cases [RCV000050271]	Chr22:18339130..21207225 [GRCh38] Chr22:18919942..21561514 [GRCh37] Chr22:17299942..19891514 [NCBI36] Chr22:22q11.21	pathogenic
GRCh38/hg38 22q11.1-11.21(chr22:16916608-21151128)x3	copy number gain	See cases [RCV000050614]	Chr22:16916608..21151128 [GRCh38] Chr22:17397498..21505417 [GRCh37] Chr22:15777498..19835417 [NCBI36] Chr22:22q11.1-11.21	pathogenic
GRCh38/hg38 22q11.21-12.3(chr22:18178957-31821193)x3	copy number gain	See cases [RCV000050768]	Chr22:18178957..31821193 [GRCh38] Chr22:18661724..32217179 [GRCh37] Chr22:17041724..30547179 [NCBI36] Chr22:22q11.21-12.3	pathogenic
GRCh38/hg38 22q11.21(chr22:18389245-21207225)x1	copy number loss	See cases [RCV000050893]	Chr22:18389245..21207225 [GRCh38] Chr22:20659547..21561514 [GRCh37] Chr22:18989547..19891514 [NCBI36] Chr22:22q11.21	pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-20354644)x1	copy number loss	See cases [RCV000051035]	Chr22:18339130..20354644 [GRCh38] Chr22:18919942..20708934 [GRCh37] Chr22:17299942..19038934 [NCBI36] Chr22:22q11.21	pathogenic
GRCh38/hg38 22q11.21(chr22:18178957-21086225)x1	copy number loss	See cases [RCV000051283]	Chr22:18178957..21086225 [GRCh38] Chr22:18661724..21440514 [GRCh37] Chr22:17041724..19770514 [NCBI36] Chr22:22q11.21	pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-20671566)x1	copy number loss	See cases [RCV000051327]	Chr22:18339130..20671566 [GRCh38] Chr22:18919742..21025854 [GRCh37] Chr22:17299742..19355854 [NCBI36] Chr22:22q11.21	pathogenic
GRCh38/hg38 22q11.21(chr22:18178932-21151156)x1	copy number loss	See cases [RCV000134130]	Chr22:18178932..21151156 [GRCh38] Chr22:18661699..21505445 [GRCh37] Chr22:17041699..19835445 [NCBI36] Chr22:22q11.21	pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-21207225)x1	copy number loss	See cases [RCV000050273]	Chr22:18339130..21207225 [GRCh38] Chr22:18919942..21561514 [GRCh37] Chr22:17299942..19891514 [NCBI36] Chr22:22q11.21	pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-21151128)x3	copy number gain	See cases [RCV000050387]	Chr22:18339130..21151128 [GRCh38] Chr22:18919942..21505417 [GRCh37] Chr22:17299942..19835417 [NCBI36] Chr22:22q11.21	pathogenic\|conflicting interpretations of pathogenicity\|conflicting data from submitters
GRCh38/hg38 22q11.1-11.21(chr22:16916608-20324240)x3	copy number gain	See cases [RCV000050858]	Chr22:16916608..20324240 [GRCh38] Chr22:17397498..20311763 [GRCh37] Chr22:15777498..18691763 [NCBI36] Chr22:22q11.1-11.21	pathogenic
GRCh38/hg38 22q11.21(chr22:18167908-21101267)x1	copy number loss	See cases [RCV000051275]	Chr22:18167908..21101267 [GRCh38] Chr22:18650675..21455556 [GRCh37] Chr22:17030675..19785556 [NCBI36] Chr22:22q11.21	pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-20343532)x1	copy number loss	See cases [RCV000051297]	Chr22:18339130..20343532 [GRCh38] Chr22:18706001..20659606 [GRCh37] Chr22:17086001..18989606 [NCBI36] Chr22:22q11.21	pathogenic
GRCh38/hg38 22q11.21(chr22:18178957-21207225)x1	copy number loss	See cases [RCV000050360]	Chr22:18178957..21207225 [GRCh38] Chr22:18661724..21561514 [GRCh37] Chr22:17041724..19891514 [NCBI36] Chr22:22q11.21	pathogenic
GRCh38/hg38 22q11.1-11.21(chr22:16916608-20354644)x3	copy number gain	See cases [RCV000133785]	Chr22:16916608..20354644 [GRCh38] Chr22:17397498..20708934 [GRCh37] Chr22:15777498..19038934 [NCBI36] Chr22:22q11.1-11.21	pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-21107463)x1	copy number loss	See cases [RCV000134520]	Chr22:18339130..21107463 [GRCh38] Chr22:18894835..21461752 [GRCh37] Chr22:17274835..19791752 [NCBI36] Chr22:22q11.21	pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-21086225)x1	copy number loss	See cases [RCV000050992]	Chr22:18339130..21086225 [GRCh38] Chr22:18919942..21440514 [GRCh37] Chr22:17299942..19770514 [NCBI36] Chr22:22q11.21	pathogenic
GRCh38/hg38 22q11.21(chr22:18178957-21151128)x3	copy number gain	See cases [RCV000051170]	Chr22:18178957..21151128 [GRCh38] Chr22:18661724..21505417 [GRCh37] Chr22:17041724..19835417 [NCBI36] Chr22:22q11.21	pathogenic
GRCh38/hg38 22q11.21(chr22:18167908-21101267)x3	copy number gain	See cases [RCV000051273]	Chr22:18167908..21101267 [GRCh38] Chr22:18650675..21455556 [GRCh37] Chr22:17030675..19785556 [NCBI36] Chr22:22q11.21	pathogenic
GRCh38/hg38 22q11.21(chr22:18145380-21086226)x1	copy number loss	See cases [RCV000134837]	Chr22:18145380..21086226 [GRCh38] Chr22:18628147..21440515 [GRCh37] Chr22:17008147..19770515 [NCBI36] Chr22:22q11.21	pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-21207225)x3	copy number gain	See cases [RCV000133880]	Chr22:18339130..21207225 [GRCh38] Chr22:18894835..21561514 [GRCh37] Chr22:17274835..19891514 [NCBI36] Chr22:22q11.21	pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-21086226)x1	copy number loss	See cases [RCV000134085]	Chr22:18339130..21086226 [GRCh38] Chr22:18894820..21440515 [GRCh37] Chr22:17274820..19770515 [NCBI36] Chr22:22q11.21	pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-20354644)x3	copy number gain	See cases [RCV000135512]	Chr22:18339130..20354644 [GRCh38] Chr22:18919942..20708934 [GRCh37] Chr22:17299942..19038934 [NCBI36] Chr22:22q11.21	pathogenic
Single allele	deletion	Chromosome 22q11.2 deletion syndrome, distal [RCV003232577]	Chr22:18985739..21081116 [GRCh38] Chr22:22q11.21	pathogenic
NC_000022.11:g.18948676_21110520del	deletion	Velocardiofacial syndrome [RCV003318485]	Chr22:18948676..21110520 [GRCh38] Chr22:22q11.21	pathogenic
Single allele	deletion	Velocardiofacial syndrome [RCV002247726]	Chr22:18948677..21110520 [GRCh38] Chr22:22q11.21	pathogenic
Single allele	duplication	Chromosome 22q11.2 microduplication syndrome [RCV003232578]	Chr22:18985739..21081116 [GRCh38] Chr22:22q11.21	pathogenic
Single allele	deletion	22q11.2 deletion syndrome [RCV003221321]	Chr22:18274663..21110254 [GRCh38] Chr22:22q11.21	pathogenic
GRCh38/hg38 22q11.21(chr22:18985739-21081116)x1	copy number loss	DiGeorge syndrome [RCV003327705]	Chr22:18985739..21081116 [GRCh38] Chr22:22q11.21	pathogenic
GRCh38/hg38 22q11.21(chr22:18856290-21070117)x3	copy number gain	Microcephaly-digital anomalies-intellectual disability syndrome [RCV003444168]	Chr22:18856290..21070117 [GRCh38] Chr22:22q11.21	pathogenic

miRNA Target Status

Predicted Target Of

	Summary Value
Count of predictions:	231
Count of miRNA genes:	220
Interacting mature miRNAs:	230
Transcripts:	ENST00000506039
Prediction methods:	Miranda, Rnahybrid
Result types:	miRGate_prediction

The detailed report is available here: Full Report CSV TAB Printer

miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/).
For more information about miRGate, see PMID:25858286 or access the full paper here.

Expression

RNA-SEQ Expression

High: > 1000 TPM value Medium: Between 11 and 1000 TPM
Low: Between 0.5 and 10 TPM Below Cutoff: < 0.5 TPM

alimentary part of gastrointestinal system

circulatory system

endocrine system

exocrine system

hemolymphoid system

hepatobiliary system

integumental system

musculoskeletal system

nervous system

renal system

reproductive system

respiratory system

sensory system

adipose tissue

appendage

entire extraembryonic component

High

Medium

Low

261

235

260

212

182

713

672

249

281

Below cutoff

1858

1661

1265

439

666

341

3335

1474

2285

294

690

1220

109

878

2052

View RNA-SEQ Expression Data

Sequence

Nucleotide Sequences


RefSeq Transcripts	NR_038460	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
GenBank Nucleotide	AC007663	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK092552	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CH471176	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CP068256	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	KF457362	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles

RefSeq Acc Id:

ENST00000506039

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	22	20,198,729 - 20,204,918 (-)	Ensembl

RefSeq Acc Id:

NR_038460

RefSeq Status:

VALIDATED

Type:

NON-CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	22	20,198,729 - 20,204,918 (-)	NCBI
T2T-CHM13v2.0	22	20,578,441 - 20,584,631 (-)	NCBI

Sequence:

show sequence

ATAATTCAGCGGCAACGCAGCTGGGGCCTGGCACACAGGGTCCCTGTGATGAGGAGGGGCTGCC
CCTGCCGGAATGCACCAGAGGCTGCCACCAGGGAGAGAGTTACAAGGACCACTTCCGTGGACCT
GGCAGGTCCTAGGGCCCCCTTTAAAATTGTGCCTGGGGAGAGTCCCTGGCGCTGCTCCGGAGGA
TCATGGAGCCCGACTCTACTCACAGGGGAGACCACACAGCTTCTGCGGGGCAAGACAGCTGAGG
AGCATGTCAGGACAGTGCCATCTGCCACCAAGGCAGCTCCAGAGAGTGGGACAGCTGTGAGAGG
CGGGACCTGTCCAGGCTCCCTGATGGGCACTCACAGCCCCCTTCACCCTCAGCGAGGCACTTGC
CCCAATGAAAACTGAGCAGTTGGACAATCTGATGTCTTGGAGGGTCCAGAGTCTCACTCTGTTG
CCCAGGCTGGAGTGCGATGGCATGATCTCGGCTCCCTGCAATCTCCACCTCCCAGGTTCAAGCA
ATTCTCCTACCTCAGCCTCCTGAGTAGCTGGGATCACAGGCACACACCACCATGCCCGGCTAAT
TTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGGCTGGTCTCCAACTCCTGACC
TCAAGTGATCAGCCTGCCTCGGGCTCCTAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCC
GGCCATAGGGCATCCTCTTAATTAGAGTGTGAGGCCTGCGGATATGGGCTGGGGAATAAGTTGA
TGCTGACAGAAAATAACTTAAACCATTGAAAGGAACAGGAAGTAAACAGAAGCAAATATTTACC
GAATCCCTGGTGAGAAGGAACTTTCCAAGAATAAAGGGAAGGATGAGTTCACTTTGACTGTGTG
GAAGCTAAATTCTCAGGTGGCTCAAAGGAAAACATCAAGCTAAAAGACAAGAAATGAGGCGGGT
AAATTTTTGACACTAACATGACAAAAAATTAATAGCATTAACACGGCAGGAACTTATCTGAAGC
AGCAACACCAAGGGCAATGTGAGTGAACTGCAGACAAGGCAACCCGGACGCCATGGGACACGCC
ACAGAGCAGGCTGCCTTGTCCCCACTCTGCCTACATGTGAGACCCACCAGACTCACAGTGAACA
CATCCCAGCCCCTCCGGCCGGGCACCACGGAAGGCCCTCCCTCCTCCACTGAGGGCAGGGATCA
CAGGGCCAGGTTTTTGTCATCGGACAAGGGGTGTCCCAAGTCATGAGATGCTTAACCCATGAAT
GCCCCCTCTTGGAGTCTATGCTAATTAAACACGTAGAGGGGCGGACTTCACTCTGCCAGCTCAG
ATAATGACCACAGCATATTTATAACCACAAAGAGGTGGAAACAGCTACACTATCCAACAGTGGG
GAAATGTTTAAGTCAATGCTGGGAGAGTAACACCATGGACCAGCCCCGAAGAGACATCTGTGGT
GAGTGAAATGCACGCCATACAAGCCCAGAGAGACTGTGAACTTGGAAGAAAGAATAGGTGCACA
CAATAAGACTGGGAGGAAATGAACAAACTATCATCGGCCATGAGGTTCTCCTTTACTTACAATA
AGTATATGCAGCACAGACATGAGAAAGGCATTCCTGGAGTGTGAAGCCCAGGGCAAGAGGATGC
GGGTGTCCTGAGCAAGCAATAATGCCAGCACCTTCTGCAAGGAGCTCTGCTGGGCCACCTCTTG
GGCAACAAACCATCCTGGGACATCTTGCAGACAAGGAAACAGGCTTCAGGAGGCAATGGTGCCT
CTTGAAGGGCAGGGCACACAGCCACAGGGCCACCTTCTGCATGGCTCCCACCGCAGCTGAGTCT
CCAAGGAAGCTGGGTTTTTACAGGGGCAGGTCCTCAAGGTGGATACCCCTTTGCTAAAGGCTCT
GCCCCAGCAACCCACAAGCAGCCACTTGCCCTGGGCTCCAGGCGGCTGCCCTCCCCTTGCTGTC
CTCTGGACTGTTTAGTATGCAGAAGGACCAGCCCTGCAAGGCCACCATAAATCCTGCCCCTGTC
CTACAGCAGATCAATTGCCAATCGGCTCCAAATCCCCTAGATGTCTCAGCAGCTTGGCCCAGCT
GTAGGAGCCACGGCCATGGTTGGCTCTAGATGCTGCTGGCTATATATATTGAACTTGAAGCATC
GGATTACATGTTTGTTCAATAGCAATAAACTCCCAAAGTTTTATGGGGTCAT

hide sequence

Protein Sequences


GenBank Protein	EAX02979	(Get FASTA)	NCBI Sequence Viewer
	EAX02980	(Get FASTA)	NCBI Sequence Viewer

Additional Information

External Database Links

Database	Acc Id	Source(s)
COSMIC	LINC02891	COSMIC
Ensembl Genes	ENSG00000249923	Ensembl, ENTREZGENE
Ensembl Transcript	ENST00000506039	ENTREZGENE
GTEx	ENSG00000249923	GTEx
HGNC ID	HGNC:55221	ENTREZGENE
Human Proteome Map	LINC02891	Human Proteome Map
NCBI Gene	LOC284865	ENTREZGENE
RNAcentral	URS0000783C4D	RNACentral

Nomenclature History

Date	Current Symbol	Current Name	Previous Symbol	Previous Name	Description	Reference	Status
2020-09-14	LINC02891	long intergenic non-protein coding RNA 2891	AC007663.2	novel transcript	Symbol and/or name change	19259463	PROVISIONAL
2020-06-25	AC007663.2	novel transcript	LOC284865	uncharacterized LOC284865	Symbol and/or name change	19259462	PROVISIONAL
2020-06-18	LOC284865	uncharacterized LOC284865	AC007663.2	novel transcript	Symbol and/or name change	5135510	APPROVED

Gene Annotator (Functional Annotation) unavailable	Gene Annotator (Annotation Distribution) unavailable	Variant Visualizer (Genomic Variants) unavailble Variant Visualizer (Genomic Variants) unavailable
Gene Annotator (Functional Annotation)	Gene Annotator (Annotation Distribution)	Variant Visualizer (Genomic Variants)

InterViewer (Protein-Protein Interactions) unavailable	Gviewer (Genome Viewer) unavailable	Variant Visualizer (Damaging Variants) unavailble Variant Visualizer (Damaging Variants) unavailable
InterViewer (Protein-Protein Interactions)	GViewer (Genome Viewer)	Variant Visualizer (Damaging Variants)

Gene Annotator (Annotation Comparison) unavailable	OLGA (Gene List Generator) unavailable
Gene Annotator (Annotation Comparison)	OLGA (Gene List Generator)	Excel (Download)

MOET (Multi-Ontology Enrichement) unavailable	GOLF (Gene-Ortholog Location Finder) unavailable
MOET (Multi-Ontology Enrichement)	GOLF (Gene-Ortholog Location Finder)

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Imported Human Phenotype Annotations - ClinVar

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