A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv602300



Internal ID16389709
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:32491651..32584162hg38UCSC Ensembl
Innerchr6:32459428..32551939hg19UCSC Ensembl
Innerchr6:32567406..32659917hg18UCSC Ensembl
Cytoband6p21.32
Allele length
AssemblyAllele length
hg3892512
hg1992512
hg1892512
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv10505n54
Supporting Variantsnssv1054968
Samples
Known GenesHLA-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)nsv602300
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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