A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv601499



Internal ID16388908
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:31269452..31270746hg38UCSC Ensembl
Innerchr6:31237229..31238523hg19UCSC Ensembl
Innerchr6:31345208..31346502hg18UCSC Ensembl
Cytoband6p21.33
Allele length
AssemblyAllele length
hg381295
hg191295
hg181295
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv10372n54
Supporting Variantsnssv1052299, nssv1052300, nssv1052301, nssv1052298
Samples
Known GenesHLA-C
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv601499
Frequency
Sample Size17421
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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