A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv602347



Internal ID16389756
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:32501683..32658151hg38UCSC Ensembl
Innerchr6:32469460..32625928hg19UCSC Ensembl
Innerchr6:32577438..32733906hg18UCSC Ensembl
Cytoband6p21.32
Allele length
AssemblyAllele length
hg38156469
hg19156469
hg18156469
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv10494n54
Supporting Variantsnssv1055182
Samples
Known GenesHLA-DQA1, HLA-DRB1, HLA-DRB5, HLA-DRB6
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv602347
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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