A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv587839



Internal ID16028562
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr21:45160455..45417794hg38UCSC Ensembl
Innerchr21:46580370..46837709hg19UCSC Ensembl
Innerchr21:45404798..45662137hg18UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg38257340
hg19257340
hg18257340
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv7899n54
Supporting Variantsnssv948528
Samples
Known GenesADARB1, COL18A1, COL18A1-AS2, LINC00316, LOC642852, POFUT2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv587839
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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