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Variant : CV162967 (GRCh38/hg38 16p11.2(chr16:29569779-30228906)x3) Homo sapiens

Symbol: CV162967
Name: GRCh38/hg38 16p11.2(chr16:29569779-30228906)x3
Condition: See cases [RCV000141682]
Clinical Significance: likely pathogenic
Last Evaluated: 03/24/2014
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)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000016.10:g.(?_29569779)_(30228906_?)dup
NC_000016.9:g.(?_29581100)_(30240227_?)dup
Position
Human AssemblyChrPosition (strand)Source
GRCh381629,569,779 - 30,228,906CLINVAR
GRCh371629,581,100 - 30,240,227CLINVAR
Build 361629,488,601 - 30,147,728CLINVAR
Cytogenetic Map1616p11.2CLINVAR



References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 9489207
Created: 2014-09-09
Species: Homo sapiens
Last Modified: 2019-11-12
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.