A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv600092



Internal ID16387501
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:155311601..155427612hg38UCSC Ensembl
Innerchr5:154691161..154807172hg19UCSC Ensembl
Innerchr5:154671354..154787365hg18UCSC Ensembl
Cytoband5q33.2
Allele length
AssemblyAllele length
hg38116012
hg19116012
hg18116012
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1153376
SamplesHGDP01300
Known Genes
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv600092
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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