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Variant : CV157647 (GRCh38/hg38 8p23.1(chr8:12182421-12546553)x3) Homo sapiens

Symbol: CV157647
Name: GRCh38/hg38 8p23.1(chr8:12182421-12546553)x3
Condition: See cases [RCV000137011]
Clinical Significance: uncertain significance
Last Evaluated: 10/19/2010
Review Status: classified by single submitter|no assertion criteria provided
Related Genes: AC068587.4   DEFB130A   FAM66A   FAM85A   FAM86B1   FAM86B2  
Variant Type: copy number gain (SO:0001742)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000008.11:g.(?_12182421)_(12546553_?)dup
NC_000008.10:g.(?_12039930)_(12404062_?)dup
NC_000008.9:g.(?_12077339)_(12448433_?)dup
Position
Human AssemblyChrPosition (strand)Source
GRCh38812,182,421 - 12,546,553CLINVAR
GRCh37812,039,930 - 12,404,062CLINVAR
Build 36812,077,339 - 12,448,433CLINVAR
Cytogenetic Map88p23.1CLINVAR



References - uncurated

Additional Information

External Database Links
 
RGD Object Information
RGD ID: 9484571
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.