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Variant : CV160316 (GRCh38/hg38 20p13(chr20:80093-1246766)x1) Homo sapiens

Symbol: CV160316
Name: GRCh38/hg38 20p13(chr20:80093-1246766)x1
Condition: See cases [RCV000139403]
Clinical Significance: pathogenic
Last Evaluated: 09/21/2012
Review Status: classified by single submitter|no assertion criteria provided
Related Genes: ANGPT4   C20orf202   C20orf96   CSNK2A1   DEFB125   DEFB126   DEFB127   DEFB128   DEFB129   DEFB132   FAM110A   NRSN2   NRSN2-AS1   PSMF1   RAD21L1   RBCK1   RSPO4   SCRT2   SLC52A3   SOX12   SRXN1   TBC1D20   TCF15   TMEM74B   TRIB3   ZCCHC3  
Variant Type: copy number loss (SO:0001743)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000020.11:g.(?_80093)_(1246766_?)del
NC_000020.10:g.(?_60734)_(1227410_?)del
NC_000020.9:g.(?_8734)_(1175410_?)del
Position
Human AssemblyChrPosition (strand)Source
GRCh382080,093 - 1,246,766CLINVAR
GRCh372060,734 - 1,227,410CLINVAR
Build 36208,734 - 1,175,410CLINVAR
Cytogenetic Map2020p13CLINVAR



References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 9486934
Created: 2014-09-09
Species: Homo sapiens
Last Modified: 2020-01-21
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.