A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv522981



Internal ID15450274
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:82920872..82967834hg38UCSC Ensembl
Innerchr6:83630591..83677553hg19UCSC Ensembl
Innerchr6:83687310..83734272hg18UCSC Ensembl
Innerchr6:83687310..83734272hg17UCSC Ensembl
Cytoband6q14.1
Allele length
AssemblyAllele length
hg3846963
hg1946963
hg1846963
hg1746963
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv387n21
Supporting Variantsnssv698651
Samples
Known GenesUBE3D
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv522981
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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