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Variant : CV154389 (GRCh38/hg38 8p23.1(chr8:7217074-8070470)x1) Homo sapiens

Symbol: CV154389
Name: GRCh38/hg38 8p23.1(chr8:7217074-8070470)x1
Condition: See cases [RCV000134098]
Clinical Significance: benign
Last Evaluated: 06/30/2010
Review Status: classified by single submitter|no assertion criteria provided
Related Genes: DEFB103A   DEFB103B   DEFB104A   DEFB104B   DEFB105A   DEFB105B   DEFB106A   DEFB106B   DEFB107A   DEFB107B   DEFB109B   DEFB4A   DEFB4B   FAM66B   FAM66E   LINC00965   PRR23D1   PRR23D2   SPAG11A   SPAG11B   USP17L1   USP17L3   USP17L4   USP17L8   ZNF705B   ZNF705G  
Variant Type: copy number loss (SO:0001743)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000008.11:g.(?_7217074)_(8070470_?)del
NC_000008.10:g.(?_7074596)_(7927992_?)del
NC_000008.9:g.(?_7062006)_(7965402_?)del
Position
Human AssemblyChrPosition (strand)Source
GRCh3887,217,074 - 8,070,470CLINVAR
GRCh3787,074,596 - 7,927,992CLINVAR
Build 3687,062,006 - 7,965,402CLINVAR
Cytogenetic Map88p23.1CLINVAR



References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 9481680
Created: 2014-09-09
Species: Homo sapiens
Last Modified: 2020-08-04
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.