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Variant : CV164743 (GRCh38/hg38 8p23.1(chr8:11948252-12546557)x3) Homo sapiens

Symbol: CV164743
Name: GRCh38/hg38 8p23.1(chr8:11948252-12546557)x3
Condition: See cases [RCV000143056]
Clinical Significance: benign
Last Evaluated: 09/21/2012
Review Status: classified by single submitter|no assertion criteria provided
Related Genes: AC068587.4   DEFB130A   DEFB130B   DEFB134   DEFB135   DEFB136   FAM66A   FAM66D   FAM85A   FAM86B1   FAM86B2   USP17L2   USP17L7   ZNF705D  
Variant Type: copy number gain (SO:0001742)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000008.11:g.(?_11948252)_(12546557_?)dup
NC_000008.10:g.(?_11805761)_(12404066_?)dup
NC_000008.9:g.(?_11843170)_(12448437_?)dup
Position
Human AssemblyChrPosition (strand)Source
GRCh38811,948,252 - 12,546,557CLINVAR
GRCh37811,805,761 - 12,404,066CLINVAR
Build 36811,843,170 - 12,448,437CLINVAR
Cytogenetic Map88p23.1CLINVAR



References - uncurated

Additional Information

External Database Links
 
RGD Object Information
RGD ID: 9490654
Created: 2014-09-09
Species: Homo sapiens
Last Modified: 2020-06-23
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.