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Variant : CV160457 (GRCh38/hg38 16p11.2(chr16:30960404-31066796)x1) Homo sapiens

Symbol: CV160457
Name: GRCh38/hg38 16p11.2(chr16:30960404-31066796)x1
Condition: See cases [RCV000139523]
Clinical Significance: likely benign
Last Evaluated: 09/21/2012
Review Status: classified by single submitter|no assertion criteria provided
Related Genes: HSD3B7   SETD1A   STX1B   STX4   ZNF668  
Variant Type: copy number loss (SO:0001743)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000016.10:g.(?_30960404)_(31066796_?)del
NC_000016.9:g.(?_30971725)_(31078117_?)del
NC_000016.8:g.(?_30879226)_(30985618_?)del
Position
Human AssemblyChrPosition (strand)Source
GRCh381630,960,404 - 31,066,796CLINVAR
GRCh371630,971,725 - 31,078,117CLINVAR
Build 361630,879,226 - 30,985,618CLINVAR
Cytogenetic Map1616p11.2CLINVAR



References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 9487054
Created: 2014-09-09
Species: Homo sapiens
Last Modified: 2020-01-14
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.