A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1153619



Internal ID15529481
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 StatusS
Merged Variantsnsv600504
Supporting Variants
SamplesHGDP00791
Known GenesADAMTS2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv1153619
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer