A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv602247



Internal ID16389656
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:32491135..32519392hg38UCSC Ensembl
Innerchr6:32458912..32487169hg19UCSC Ensembl
Innerchr6:32566890..32595147hg18UCSC Ensembl
Cytoband6p21.32
Allele length
AssemblyAllele length
hg3828258
hg1928258
hg1828258
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv10498n54
Supporting Variantsnssv1054724, nssv1054723, nssv1054725
Samples
Known GenesHLA-DRB5
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv602247
Frequency
Sample Size17421
Observed Gain2
Observed Loss1
Observed Complex0
Frequencyn/a


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