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Variant : CV170662 (GRCh38/hg38 2q12.3-13(chr2:108593876-109700179)x3) Homo sapiens

Symbol: CV170662
Name: GRCh38/hg38 2q12.3-13(chr2:108593876-109700179)x3
Condition: See cases [RCV000053142]
Clinical Significance: uncertain significance
Last Evaluated: 08/12/2011
Review Status: classified by single submitter|criteria provided, single submitter|no assertion criteria provided
Related Genes: CCDC138   EDAR   LIMS1   MIR4265   MIR4266   RANBP2   SEPTIN10   SH3RF3   SH3RF3-AS1   SOWAHC  
Variant Type: copy number gain (SO:0001742)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000002.12:g.(?_108593876)_(109700179_?)dup
NC_000002.11:g.(?_109210332)_(110457756_?)dup
NC_000002.10:g.(?_108576764)_(109815045_?)dup
Position
Human AssemblyChrPosition (strand)Source
GRCh382108,593,876 - 109,700,179CLINVAR
GRCh372109,210,332 - 110,457,756CLINVAR
Build 362108,576,764 - 109,815,045CLINVAR
Cytogenetic Map22q12.3-13CLINVAR




Additional Information

 
RGD Object Information
RGD ID: 9684578
Created: 2014-12-09
Species: Homo sapiens
Last Modified: 2017-10-31
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.