A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv602240



Internal ID16042963
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:32491063..32811865hg38UCSC Ensembl
Innerchr6:32458840..32779642hg19UCSC Ensembl
Innerchr6:32566818..32887620hg18UCSC Ensembl
Cytoband6p21.32
Allele length
AssemblyAllele length
hg38320803
hg19320803
hg18320803
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1054659
Samples
Known GenesHLA-DQA1, HLA-DQA2, HLA-DQB1, HLA-DQB2, 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)nsv602240
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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