A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3116411



Internal ID21299677
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:68289489..68294374hg38UCSC Ensembl
Innerchr17:66285630..66290515hg19UCSC Ensembl
Cytoband17q24.2
Allele length
AssemblyAllele length
hg384886
hg194886
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv506n145
Supporting Variantsnssv14098453, nssv14097720
Samplessample300, sample250
Known GenesARSG, SLC16A6
MethodOligo aCGH
Analysis
Platform
Comments
ReferenceLu_et_al_2017
Pubmed ID28705883
Accession Number(s)nsv3116411
Frequency
Sample Size467
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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