A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv584860



Internal ID16372269
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:240736552..240783028hg38UCSC Ensembl
Innerchr2:241675969..241722445hg19UCSC Ensembl
Innerchr2:241324642..241371118hg18UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg3846477
hg1946477
hg1846477
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1151195
SamplesHGDP00865
Known GenesKIF1A
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv584860
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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