A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv580400



Internal ID16021123
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:57153977..57348222hg38UCSC Ensembl
Innerchr19:57665345..57859590hg19UCSC Ensembl
Innerchr19:62357157..62551402hg18UCSC Ensembl
Cytoband19q13.43
Allele length
AssemblyAllele length
hg38194246
hg19194246
hg18194246
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv901992
Samples
Known GenesAURKC, DUXA, ZNF264, ZNF460, ZNF543, ZNF805
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv580400
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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