A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv599699



Internal ID16387108
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:128837115..128923758hg38UCSC Ensembl
Innerchr5:128172808..128259451hg19UCSC Ensembl
Innerchr5:128200707..128287350hg18UCSC Ensembl
Cytoband5q23.3
Allele length
AssemblyAllele length
hg3886644
hg1986644
hg1886644
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1032500
Samples
Known Genes
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv599699
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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