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Variant : CV155783 (GRCh38/hg38 20q11.21(chr20:31254983-33473080)x3) Homo sapiens

Symbol: CV155783
Name: GRCh38/hg38 20q11.21(chr20:31254983-33473080)x3
Condition: See cases [RCV000135358]
Clinical Significance: pathogenic
Last Evaluated: 11/30/2010
Review Status: classified by single submitter|no assertion criteria provided
Related Genes: ABALON   AL034550.2   ASXL1   BCL2L1   BCL2L1-AS1   BPIFA1   BPIFA2   BPIFA3   BPIFB1   BPIFB2   BPIFB3   BPIFB4   BPIFB6   C20orf203   CCM2L   CDK5RAP1   COMMD7   COX4I2   DEFB115   DEFB116   DEFB118   DEFB119   DEFB121   DEFB123   DEFB124   DNMT3B   DUSP15   EFCAB8   FOXS1   HCK   HM13   HM13-AS1   ID1   KIF3B   LINC00028   MAPRE1   MIR1825   MIR3193   MYLK2   NOL4L   NOL4L-DT   PDRG1   PLAGL2   POFUT1   REM1   SNTA1   SUN5   TM9SF4   TPX2   TTLL9   XKR7  
Variant Type: copy number gain (SO:0001742)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000020.11:g.(?_31254983)_(33473080_?)dup
NC_000020.10:g.(?_29842786)_(32060886_?)dup
Position
Human AssemblyChrPosition (strand)Source
GRCh382031,254,983 - 33,473,080CLINVAR
GRCh372029,842,786 - 32,060,886CLINVAR
Build 362029,306,447 - 31,524,547CLINVAR
Cytogenetic Map2020q11.21CLINVAR




Additional Information

External Database Links
 
RGD Object Information
RGD ID: 9482931
Created: 2014-09-09
Species: Homo sapiens
Last Modified: 2020-09-08
Status: ACTIVE



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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.