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Variant : CV154245 (GRCh38/hg38 8p23.1(chr8:7381969-8222398)x3) Homo sapiens

Symbol: CV154245
Name: GRCh38/hg38 8p23.1(chr8:7381969-8222398)x3
Condition: See cases [RCV000133976]
Clinical Significance: benign
Last Evaluated: 02/04/2013
Review Status: classified by single submitter|no assertion criteria provided
Related Genes: DEFB103A   DEFB103B   DEFB104A   DEFB104B   DEFB105A   DEFB105B   DEFB106A   DEFB106B   DEFB107A   DEFB107B   DEFB4A   DEFB4B   FAM66E   FAM85B   MIR548I3   PRR23D1   PRR23D2   SPAG11A   SPAG11B   USP17L3   USP17L8   ZNF705B   ZNF705G  
Variant Type: copy number gain (SO:0001742)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000008.11:g.(?_7381969)_(8222398_?)dup
NC_000008.10:g.(?_7239491)_(8079920_?)dup
NC_000008.9:g.(?_7226901)_(8117330_?)dup
Position
Human AssemblyChrPosition (strand)Source
GRCh3887,381,969 - 8,222,398CLINVAR
GRCh3787,239,491 - 8,079,920CLINVAR
Build 3687,226,901 - 8,117,330CLINVAR
Cytogenetic Map88p23.1CLINVAR



References - uncurated

Additional Information

External Database Links
 
RGD Object Information
RGD ID: 9481561
Created: 2014-09-09
Species: Homo sapiens
Last Modified: 2020-06-30
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.