A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv701601



Internal ID15091567
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:215942779..215946984hg38UCSC Ensembl
Innerchr2:216807502..216811707hg19UCSC Ensembl
Innerchr2:216515747..216519952hg18UCSC Ensembl
Innerchr2:216633008..216637213hg17UCSC Ensembl
Cytoband2q35
Allele length
AssemblyAllele length
hg384206
hg194206
hg184206
hg174206
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv525473
Supporting Variants
Samples
Known GenesMREG
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv701601
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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