A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv597316



Internal ID16384725
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:17347597..17353890hg38UCSC Ensembl
Innerchr5:17347706..17353999hg19UCSC Ensembl
Innerchr5:17400706..17406999hg18UCSC Ensembl
Cytoband5p15.1
Allele length
AssemblyAllele length
hg386294
hg196294
hg186294
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv9622n54
Supporting Variantsnssv1026304, nssv1026305, nssv1026303, nssv1026302
Samples
Known Genes
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv597316
Frequency
Sample Size17421
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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