A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv597330



Internal ID16038053
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:17403509..17719728hg38UCSC Ensembl
Innerchr5:17403618..17719837hg19UCSC Ensembl
Innerchr5:17456618..17755558hg18UCSC Ensembl
Cytoband5p15.1
Allele length
AssemblyAllele length
hg38316220
hg19316220
hg18298941
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1153531
Samples1780862373_A
Known Genes
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv597330
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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