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Variant : CV164001 (GRCh38/hg38 16p11.2(chr16:29555975-30180527)x3) Homo sapiens

Symbol: CV164001
Name: GRCh38/hg38 16p11.2(chr16:29555975-30180527)x3
Condition: See cases [RCV000142335]
Clinical Significance: likely pathogenic
Last Evaluated: 03/18/2014
Review Status: classified by single submitter|no assertion criteria provided
Related Genes: ALDOA   ALDOA   ASPHD1   C16orf54   C16orf92   CDIPT   CDIPTOSP   DOC2A   GDPD3   HIRIP3   INO80E   KCTD13   KIF22   LOC101928595   LOC112352679   LOC112352680   LOC116276452   MAPK3   MAZ   MIR3680-2   MVP   PAGR1   PPP4C   PRRT2   QPRT   SEZ6L2   SPN   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.(?_29555975)_(30180527_?)dup
NC_000016.9:g.(?_29567296)_(30191848_?)dup
Position
Human AssemblyChrPosition (strand)Source
GRCh381629,555,975 - 30,180,527CLINVAR
GRCh371629,567,296 - 30,191,848CLINVAR
Build 361629,474,797 - 30,099,349CLINVAR
Cytogenetic Map1616p11.2CLINVAR



References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 9489854
Created: 2014-09-09
Species: Homo sapiens
Last Modified: 2020-11-24
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.