A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv598093



Internal ID16385502
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:50159451..50251254hg38UCSC Ensembl
Innerchr5:49455285..49547088hg19UCSC Ensembl
Innerchr5:49491042..49582845hg18UCSC Ensembl
Cytoband5q11.1
Allele length
AssemblyAllele length
hg3891804
hg1991804
hg1891804
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv9768n54
Supporting Variantsnssv1030147
Samples
Known Genes
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv598093
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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