A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv702053



Internal ID15438705
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:98247818..98253451hg38UCSC Ensembl
Innerchr2:98864281..98869914hg19UCSC Ensembl
Innerchr2:98230713..98236346hg18UCSC Ensembl
Innerchr2:98322799..98328432hg17UCSC Ensembl
Cytoband2q11.2
Allele length
AssemblyAllele length
hg385634
hg195634
hg185634
hg175634
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv517669
Supporting Variants
Samples
Known GenesVWA3B
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv702053
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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