A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv583749



Internal ID16371158
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:178194091..178195151hg38UCSC Ensembl
Innerchr2:179058818..179059878hg19UCSC Ensembl
Innerchr2:178767064..178768124hg18UCSC Ensembl
Cytoband2q31.2
Allele length
AssemblyAllele length
hg381061
hg191061
hg181061
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv7187n54
Supporting Variantsnssv927197, nssv927200, nssv927199, nssv927198
Samples
Known GenesOSBPL6
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv583749
Frequency
Sample Size17421
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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