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Variant : CV165051 (GRCh38/hg38 16p11.2(chr16:29579757-30228906)x3) Homo sapiens

Symbol: CV165051
Name: GRCh38/hg38 16p11.2(chr16:29579757-30228906)x3
Condition: See cases [RCV000143364]
Clinical Significance: pathogenic
Last Evaluated: 04/23/2013
Review Status: classified by single submitter|no assertion criteria provided
Related Genes: ALDOA   ASPHD1   BOLA2B   C16orf54   C16orf92   CDIPT   CDIPTOSP   CORO1A   DOC2A   GDPD3   HIRIP3   INO80E   KCTD13   KIF22   MAPK3   MAZ   MIR3680-2   MVP   NPIPB13   PAGR1   PPP4C   PRRT2   QPRT   SEZ6L2   SLX1A   SLX1A-SULT1A3   SPN   SULT1A3   TAOK2   TBX6   TLCD3B   TMEM219   YPEL3   ZG16  
Variant Type: copy number gain (SO:0001742)
Evidence: clinical testing
HGVS Name(s): NC_000016.10:g.(?_29579757)_(30228906_?)dup
Human AssemblyChrPosition (strand)Source
GRCh381629,579,757 - 30,228,906CLINVAR
GRCh371629,591,078 - 30,240,227CLINVAR
Build 361629,498,579 - 30,147,728CLINVAR
Cytogenetic Map1616p11.2CLINVAR

References - uncurated

Additional Information

External Database Links
CRRD Object Information
CRRD ID: 9490962
Created: 2014-09-09
Species: Homo sapiens
Last Modified: 2020-02-11
Status: ACTIVE


RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.