A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv601498



Internal ID16388907
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:31269452..31270332hg38UCSC Ensembl
Innerchr6:31237229..31238109hg19UCSC Ensembl
Innerchr6:31345208..31346088hg18UCSC Ensembl
Cytoband6p21.33
Allele length
AssemblyAllele length
hg38881
hg19881
hg18881
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv10374n54
Supporting Variantsnssv1052296, nssv1052297
Samples
Known GenesHLA-C
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv601498
Frequency
Sample Size17421
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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