A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv601494



Internal ID16388903
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:31269283..31270746hg38UCSC Ensembl
Innerchr6:31237060..31238523hg19UCSC Ensembl
Innerchr6:31345039..31346502hg18UCSC Ensembl
Cytoband6p21.33
Allele length
AssemblyAllele length
hg381464
hg191464
hg181464
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv10372n54
Supporting Variantsnssv1052291
Samples
Known GenesHLA-C
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv601494
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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