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Variant : CV155772 (GRCh38/hg38 Xp21.1(chrX:32452761-32645074)x2) Homo sapiens

Symbol: CV155772
Name: GRCh38/hg38 Xp21.1(chrX:32452761-32645074)x2
Condition: See cases [RCV000135347]
Clinical Significance: pathogenic
Last Evaluated: 11/30/2010
Review Status: classified by single submitter|no assertion criteria provided
Related Genes: DMD   MIR3915   MIR548F5  
Variant Type: copy number gain (SO:0001742)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000023.11:g.(?_32452761)_(32645074_?)dup
NC_000023.10:g.(?_32470878)_(32663191_?)dup
Position
Human AssemblyChrPosition (strand)Source
GRCh38X32,452,761 - 32,645,074CLINVAR
GRCh37X32,470,878 - 32,663,191CLINVAR
Build 36X32,380,799 - 32,573,112CLINVAR
Cytogenetic MapXXp21.1CLINVAR




Additional Information

External Database Links
 
RGD Object Information
RGD ID: 9482920
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.