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Variant : CV155359 (GRCh38/hg38 7p12.2(chr7:49669048-50360016)x3) Homo sapiens

Symbol: CV155359
Name: GRCh38/hg38 7p12.2(chr7:49669048-50360016)x3
Condition: See cases [RCV000134942]
Clinical Significance: likely benign
Last Evaluated: 01/14/2011
Review Status: classified by single submitter|no assertion criteria provided
Related Genes: IKZF1   SPATA48   VWC2   ZPBP  
Variant Type: copy number gain (SO:0001742)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000007.14:g.(?_49669048)_(50360016_?)dup
NC_000007.13:g.(?_49708644)_(50427714_?)dup
NC_000007.12:g.(?_49679190)_(50395208_?)dup
Position
Human AssemblyChrPosition (strand)Source
GRCh38749,669,048 - 50,360,016CLINVAR
GRCh37749,708,644 - 50,427,714CLINVAR
Build 36749,679,190 - 50,395,208CLINVAR
Cytogenetic Map77p12.2CLINVAR



References - uncurated

Additional Information

External Database Links
 
RGD Object Information
RGD ID: 9482515
Created: 2014-09-09
Species: Homo sapiens
Last Modified: 2020-02-11
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.