A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv600502



Internal ID16041225
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:179301829..179508664hg38UCSC Ensembl
Innerchr5:178728830..178935665hg19UCSC Ensembl
Innerchr5:178661436..178868271hg18UCSC Ensembl
Cytoband5q35.3
Allele length
AssemblyAllele length
hg38206836
hg19206836
hg18206836
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv10210n54
Supporting Variantsnssv1153617, nssv1153615, nssv1153614, nssv1153616
SamplesHGDP01210, HGDP01203, HGDP01228, HGDP00103
Known GenesADAMTS2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv600502
Frequency
Sample Size17421
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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