A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv697425



Internal ID15087391
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:4604232..4609817hg38UCSC Ensembl
Innerchr3:4645916..4651501hg19UCSC Ensembl
Innerchr3:4620916..4626501hg18UCSC Ensembl
Innerchr3:4620916..4626501hg17UCSC Ensembl
Cytoband3p26.1
Allele length
AssemblyAllele length
hg385586
hg195586
hg185586
hg175586
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv520447
Supporting Variants
Samples
Known GenesITPR1
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv697425
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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