A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3117611



Internal ID21300877
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:136513748..136561196hg38UCSC Ensembl
Innerchr2:137271318..137318766hg19UCSC Ensembl
Cytoband2q22.1
Allele length
AssemblyAllele length
hg3847449
hg1947449
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14103284
Samplessample89
Known Genes
MethodOligo aCGH
Analysis
Platform
Comments
ReferenceLu_et_al_2017
Pubmed ID28705883
Accession Number(s)nsv3117611
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