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Variant : CV159549 (GRCh38/hg38 Xq13.1(chrX:71810439-72381499)x3) Homo sapiens

Symbol: CV159549
Name: GRCh38/hg38 Xq13.1(chrX:71810439-72381499)x3
Condition: See cases [RCV000138759]
Clinical Significance: likely benign
Last Evaluated: 09/21/2012
Review Status: classified by single submitter|no assertion criteria provided
Related Genes: CITED1   ERCC6L   FLJ44635   HDAC8   NHSL2   PIN4   RPS4X   RTL5  
Variant Type: copy number gain (SO:0001742)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000023.11:g.(?_71810439)_(72381499_?)dup
NC_000023.10:g.(?_71030289)_(71530833_?)dup
NC_000023.9:g.(?_70947014)_(71518074_?)dup
Position
Human AssemblyChrPosition (strand)Source
GRCh38X71,810,439 - 72,381,499CLINVAR
GRCh37X71,030,289 - 71,530,833 (+)CLINVAR
Build 36X70,947,014 - 71,518,074CLINVAR
Cytogenetic MapXXq13.1CLINVAR



References - uncurated

Additional Information

External Database Links
 
RGD Object Information
RGD ID: 9486296
Created: 2014-09-09
Species: Homo sapiens
Last Modified: 2020-03-24
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.