A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv695653



Internal ID15432305
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:232925737..232928807hg38UCSC Ensembl
Innerchr2:233790447..233793517hg19UCSC Ensembl
Innerchr2:233498691..233501761hg18UCSC Ensembl
Innerchr2:233615952..233619022hg17UCSC Ensembl
Cytoband2q37.1
Allele length
AssemblyAllele length
hg383071
hg193071
hg183071
hg173071
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv518226
Supporting Variants
Samples
Known GenesNGEF
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv695653
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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