A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv596628



Internal ID16037351
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:457146..539195hg38UCSC Ensembl
Innerchr5:457261..539310hg19UCSC Ensembl
Innerchr5:510261..592310hg18UCSC Ensembl
Cytoband5p15.33
Allele length
AssemblyAllele length
hg3882050
hg1982050
hg1882050
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1021071
Samples
Known GenesEXOC3, MIR4456, PP7080, SLC9A3
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv596628
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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