A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv597824



Internal ID16038547
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:37206519..37409477hg38UCSC Ensembl
Innerchr5:37206621..37409579hg19UCSC Ensembl
Innerchr5:37242378..37445336hg18UCSC Ensembl
Cytoband5p13.2
Allele length
AssemblyAllele length
hg38202959
hg19202959
hg18202959
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv9722n54
Supporting Variantsnssv1028961
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)nsv597824
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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