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Variant : CV71649 (GRCh38/hg38 8p23.1(chr8:7022782-8273167)x1) Homo sapiens

Symbol: CV71649
Name: GRCh38/hg38 8p23.1(chr8:7022782-8273167)x1
Condition: See cases [RCV000050650]
Clinical Significance: benign
Last Evaluated: 08/12/2011
Review Status: classified by single submitter|criteria provided, single submitter|no assertion criteria provided
Related Genes: DEFA5   DEFB103A   DEFB103B   DEFB104A   DEFB104B   DEFB105A   DEFB105B   DEFB106A   DEFB106B   DEFB107A   DEFB107B   DEFB109B   DEFB4A   DEFB4B   FAM66B   FAM66E   FAM85B   LINC00965   MIR548I3   PRR23D1   PRR23D2   SPAG11A   SPAG11B   USP17L1   USP17L3   USP17L4   USP17L8   ZNF705B   ZNF705G  
Variant Type: copy number loss (SO:0001743)
Evidence: clinical testing
HGVS Name(s): NC_000008.11:g.(?_7022782)_(8273167_?)del
Human AssemblyChrPosition (strand)Source
GRCh3887,022,782 - 8,273,167CLINVAR
GRCh3786,880,304 - 8,130,689CLINVAR
Build 3686,867,714 - 8,168,099CLINVAR
Cytogenetic Map88p23.1CLINVAR

References - uncurated

Additional Information

External Database Links
CRRD Object Information
CRRD ID: 8617750
Created: 2014-05-13
Species: Homo sapiens
Last Modified: 2020-07-28
Status: ACTIVE


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