A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv597314



Internal ID16384723
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:17347597..17352750hg38UCSC Ensembl
Innerchr5:17347706..17352859hg19UCSC Ensembl
Innerchr5:17400706..17405859hg18UCSC Ensembl
Cytoband5p15.1
Allele length
AssemblyAllele length
hg385154
hg195154
hg185154
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv9622n54
Supporting Variantsnssv1026295, nssv1026294, nssv1026293
Samples
Known Genes
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv597314
Frequency
Sample Size17421
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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