A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv601500



Internal ID16388909
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:31269452..31271998hg38UCSC Ensembl
Innerchr6:31237229..31239775hg19UCSC Ensembl
Innerchr6:31345208..31347754hg18UCSC Ensembl
Cytoband6p21.33
Allele length
AssemblyAllele length
hg382547
hg192547
hg182547
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1052302, nssv1052303
Samples
Known GenesHLA-C
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv601500
Frequency
Sample Size17421
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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