A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14082695



Internal ID21287445
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:179300721..179505069hg38UCSC Ensembl
Innerchr5:178727722..178932070hg19UCSC Ensembl
Cytoband5q35.3
Allele length
AssemblyAllele length
hg38204349
hg19204349
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3118076
Supporting Variants
Samplessample400
Known GenesADAMTS2
MethodOligo aCGH
Analysis
Platform
Comments
ReferenceLu_et_al_2017
Pubmed ID28705883
Accession Number(s)nssv14082695
Frequency
Sample Size467
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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