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Variant : CV160426 (GRCh38/hg38 14q11.2(chr14:20223278-20248671)x3) Homo sapiens

Symbol: CV160426
Name: GRCh38/hg38 14q11.2(chr14:20223278-20248671)x3
Condition: See cases [RCV000139497]
Clinical Significance: likely benign
Last Evaluated: 09/21/2012
Review Status: classified by single submitter|no assertion criteria provided
Related Genes: OR11H4   OR11H6   OR11H7  
Variant Type: copy number gain (SO:0001742)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000014.9:g.(?_20223278)_(20248671_?)dup
NC_000014.8:g.(?_20691437)_(20716830_?)dup
NC_000014.7:g.(?_19761277)_(19786670_?)dup
Position
Human AssemblyChrPosition (strand)Source
GRCh381420,223,278 - 20,248,671CLINVAR
GRCh371420,691,437 - 20,716,830CLINVAR
Build 361419,761,277 - 19,786,670CLINVAR
Cytogenetic Map1414q11.2CLINVAR



References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 9487028
Created: 2014-09-09
Species: Homo sapiens
Last Modified: 2019-10-08
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.