A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv598350



Internal ID16385759
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:63599201..63694870hg38UCSC Ensembl
Innerchr5:62895028..62990697hg19UCSC Ensembl
Innerchr5:62930784..63026453hg18UCSC Ensembl
Cytoband5q12.1
Allele length
AssemblyAllele length
hg3895670
hg1995670
hg1895670
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1034351
Samples
Known Genes
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv598350
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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