A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv583747



Internal ID16371156
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:178194091..178194931hg38UCSC Ensembl
Innerchr2:179058818..179059658hg19UCSC Ensembl
Innerchr2:178767064..178767904hg18UCSC Ensembl
Cytoband2q31.2
Allele length
AssemblyAllele length
hg38841
hg19841
hg18841
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv927195, nssv927194, nssv927192, nssv927193
Samples
Known GenesOSBPL6
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv583747
Frequency
Sample Size17421
Observed Gain3
Observed Loss1
Observed Complex0
Frequencyn/a


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