A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv598150



Internal ID16385559
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:52007741..52129677hg38UCSC Ensembl
Innerchr5:51303575..51425511hg19UCSC Ensembl
Innerchr5:51339332..51461268hg18UCSC Ensembl
Cytoband5q11.2
Allele length
AssemblyAllele length
hg38121937
hg19121937
hg18121937
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv9782n54
Supporting Variantsnssv1030335
Samples
Known Genes
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv598150
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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