A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv927192



Internal ID16221148
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
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv583747
Supporting Variants
Samples
Known GenesOSBPL6
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv927192
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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