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Variant : CV162077 (GRCh38/hg38 14q32.2(chr14:100236766-100743192)x3) Homo sapiens

Symbol: CV162077
Name: GRCh38/hg38 14q32.2(chr14:100236766-100743192)x3
Condition: See cases [RCV000140891]
Clinical Significance: uncertain significance
Last Evaluated: 03/11/2013
Review Status: classified by single submitter|no assertion criteria provided
Related Genes: BEGAIN   DLK1   LINC00523   MIR345   MIR6764   SLC25A29   SLC25A47   WARS1   WDR25   YY1  
Variant Type: copy number gain (SO:0001742)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000014.9:g.(?_100236766)_(100743192_?)dup
NC_000014.8:g.(?_100703103)_(101209529_?)dup
NC_000014.7:g.(?_99772856)_(100279282_?)dup
Position
Human AssemblyChrPosition (strand)Source
GRCh3814100,236,766 - 100,743,192CLINVAR
GRCh3714100,703,103 - 101,209,529CLINVAR
Build 361499,772,856 - 100,279,282CLINVAR
Cytogenetic Map1414q32.2CLINVAR



References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 9488419
Created: 2014-09-09
Species: Homo sapiens
Last Modified: 2020-02-20
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.