A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv597317



Internal ID16384726
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:17347597..17354556hg38UCSC Ensembl
Innerchr5:17347706..17354665hg19UCSC Ensembl
Innerchr5:17400706..17407665hg18UCSC Ensembl
Cytoband5p15.1
Allele length
AssemblyAllele length
hg386960
hg196960
hg186960
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv9622n54
Supporting Variantsnssv1026306
Samples
Known Genes
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv597317
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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