A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv599660



Internal ID16387069
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:126209171..126315601hg38UCSC Ensembl
Innerchr5:125544864..125651293hg19UCSC Ensembl
Innerchr5:125572763..125679192hg18UCSC Ensembl
Cytoband5q23.2
Allele length
AssemblyAllele length
hg38106431
hg19106430
hg18106430
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1032090
Samples
Known GenesLOC101927488
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv599660
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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