A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv583745



Internal ID16371154
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:178194091..178194817hg38UCSC Ensembl
Innerchr2:179058818..179059544hg19UCSC Ensembl
Innerchr2:178767064..178767790hg18UCSC Ensembl
Cytoband2q31.2
Allele length
AssemblyAllele length
hg38727
hg19727
hg18727
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv7186n54
Supporting Variantsnssv927190
Samples
Known GenesOSBPL6
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv583745
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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