A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv598087



Internal ID16385496
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:50113651..50145767hg38UCSC Ensembl
Innerchr5:49409485..49441601hg19UCSC Ensembl
Innerchr5:49445242..49477358hg18UCSC Ensembl
Cytoband5q11.1
Allele length
AssemblyAllele length
hg3832117
hg1932117
hg1832117
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv9767n54
Supporting Variantsnssv1030140
Samples
Known Genes
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv598087
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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