Submit Data |  Help |  Video Tutorials |  News |  Publications |  FTP Download |  REST API |  Citing RGD |  Contact   

Variant : CV165073 (GRCh38/hg38 16p11.2(chr16:29555974-30309999)x3) Homo sapiens

Symbol: CV165073
Name: GRCh38/hg38 16p11.2(chr16:29555974-30309999)x3
Condition: See cases [RCV000143386]
Clinical Significance: pathogenic
Last Evaluated:
Review Status: classified by single submitter|no assertion criteria provided
Related Genes: ALDOA   ALDOA   ASPHD1   BOLA2B   C16orf54   C16orf92   CDIPT   CDIPTOSP   CORO1A   DOC2A   GDPD3   HIRIP3   INO80E   KCTD13   KIF22   LOC101928595   LOC112352679   LOC112352680   LOC116276452   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.(?_29555974)_(30309999_?)dup
Human AssemblyChrPosition (strand)Source
GRCh381629,555,974 - 30,309,999CLINVAR
GRCh371629,567,295 - 30,321,320CLINVAR
Build 361629,474,796 - 30,228,821CLINVAR
Cytogenetic Map1616p11.2CLINVAR

References - uncurated

Additional Information

External Database Links
CRRD Object Information
CRRD ID: 9490984
Created: 2014-09-09
Species: Homo sapiens
Last Modified: 2020-11-17
Status: ACTIVE


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