A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv599107



Internal ID16386516
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:99009696..99021029hg38UCSC Ensembl
Innerchr5:98345400..98356733hg19UCSC Ensembl
Innerchr5:98373300..98384633hg18UCSC Ensembl
Cytoband5q21.1
Allele length
AssemblyAllele length
hg3811334
hg1911334
hg1811334
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv9956n54
Supporting Variantsnssv1039477, nssv1039479, nssv1039478
Samples
Known Genes
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv599107
Frequency
Sample Size17421
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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