A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv602869



Internal ID16390278
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:34236508..34238175hg38UCSC Ensembl
Innerchr6:34204285..34205952hg19UCSC Ensembl
Innerchr6:34312263..34313930hg18UCSC Ensembl
Cytoband6p21.31
Allele length
AssemblyAllele length
hg381668
hg191668
hg181668
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv10617n54
Supporting Variantsnssv1057879
Samples
Known GenesHMGA1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv602869
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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