A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv598183



Internal ID16385592
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:56075407..56099285hg38UCSC Ensembl
Innerchr5:55371234..55395112hg19UCSC Ensembl
Innerchr5:55406991..55430869hg18UCSC Ensembl
Cytoband5q11.2
Allele length
AssemblyAllele length
hg3823879
hg1923879
hg1823879
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1030369
Samples
Known Genes
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv598183
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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