A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv598148



Internal ID16385557
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:51981695..52093054hg38UCSC Ensembl
Innerchr5:51277529..51388888hg19UCSC Ensembl
Innerchr5:51313286..51424645hg18UCSC Ensembl
Cytoband5q11.2
Allele length
AssemblyAllele length
hg38111360
hg19111360
hg18111360
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv9781n54
Supporting Variantsnssv1030334, nssv1153930
SamplesNINDS_94
Known Genes
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv598148
Frequency
Sample Size17421
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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