A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv599703



Internal ID16387112
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:129166045..129218502hg38UCSC Ensembl
Innerchr5:128501738..128554195hg19UCSC Ensembl
Innerchr5:128529637..128582094hg18UCSC Ensembl
Cytoband5q23.3
Allele length
AssemblyAllele length
hg3852458
hg1952458
hg1852458
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1032504
Samples
Known Genes
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv599703
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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