A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv598932



Internal ID16386341
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:91201618..91206234hg38UCSC Ensembl
Innerchr5:90497435..90502051hg19UCSC Ensembl
Innerchr5:90533191..90537807hg18UCSC Ensembl
Cytoband5q14.3
Allele length
AssemblyAllele length
hg384617
hg194617
hg184617
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1036479, nssv1036471, nssv1036473, nssv1036468, nssv1036466, nssv1036480, nssv1036472, nssv1036476, nssv1036467, nssv1036469, nssv1036475, nssv1036474, nssv1036470, nssv1036478, nssv1036465, nssv1036477
Samples
Known Genes
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv598932
Frequency
Sample Size17421
Observed Gain0
Observed Loss16
Observed Complex0
Frequencyn/a


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