A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv600504



Internal ID16041227
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:179301829..179517406hg38UCSC Ensembl
Innerchr5:178728830..178944407hg19UCSC Ensembl
Innerchr5:178661436..178877013hg18UCSC Ensembl
Cytoband5q35.3
Allele length
AssemblyAllele length
hg38215578
hg19215578
hg18215578
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv10210n54
Supporting Variantsnssv1046317, nssv1153619
SamplesHGDP00791
Known GenesADAMTS2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv600504
Frequency
Sample Size17421
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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