A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv601495



Internal ID16388904
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:31269283..31274414hg38UCSC Ensembl
Innerchr6:31237060..31242191hg19UCSC Ensembl
Innerchr6:31345039..31350170hg18UCSC Ensembl
Cytoband6p21.33
Allele length
AssemblyAllele length
hg385132
hg195132
hg185132
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv10373n54
Supporting Variantsnssv1052292
Samples
Known GenesHLA-C
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv601495
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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