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Variant : CV170717 (GRCh38/hg38 16p11.2(chr16:29170820-30179247)x3) Homo sapiens

Symbol: CV170717
Name: GRCh38/hg38 16p11.2(chr16:29170820-30179247)x3
Condition: See cases [RCV000148119]
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: ALDOA   ASPHD1   BOLA2   C16orf54   C16orf92   CDIPT   CDIPTOSP   DOC2A   GDPD3   HIRIP3   INO80E   KCTD13   KIF22   MAPK3   MAZ   MIR3680-2   MVP   NPIPB11   PAGR1   PPP4C   PRRT2   QPRT   SEZ6L2   SLX1B   SLX1B-SULT1A4   SPN   SULT1A4   TAOK2   TBX6   TLCD3B   TMEM219   YPEL3   ZG16  
Variant Type: copy number gain (SO:0001742)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000016.10:g.(?_29170820)_(30179247_?)dup
NC_000016.9:g.(?_29182141)_(30190568_?)dup
NC_000016.8:g.(?_29089642)_(30098069_?)dup
Position
Human AssemblyChrPosition (strand)Source
GRCh381629,170,820 - 30,179,247CLINVAR
GRCh371629,182,141 - 30,190,568CLINVAR
Build 361629,089,642 - 30,098,069CLINVAR
Cytogenetic Map1616p11.2CLINVAR




Additional Information

 
CRRD Object Information
CRRD ID: 9684668
Created: 2014-12-09
Species: Homo sapiens
Last Modified: 2016-05-31
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.