A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv597825



Internal ID16038548
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:37206519..37430263hg38UCSC Ensembl
Innerchr5:37206621..37430365hg19UCSC Ensembl
Innerchr5:37242378..37466122hg18UCSC Ensembl
Cytoband5p13.2
Allele length
AssemblyAllele length
hg38223745
hg19223745
hg18223745
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv9722n54
Supporting Variantsnssv1028962
Samples
Known GenesC5orf42, NUP155, WDR70
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv597825
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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