A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv597538



Internal ID16384947
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:23242576..23263637hg38UCSC Ensembl
Innerchr5:23242685..23263746hg19UCSC Ensembl
Innerchr5:23278442..23299503hg18UCSC Ensembl
Cytoband5p14.3
Allele length
AssemblyAllele length
hg3821062
hg1921062
hg1821062
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1153038
SamplesNINDS_125
Known Genes
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv597538
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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