A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3116627



Internal ID21299893
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:445408..749149hg38UCSC Ensembl
Innerchr2:445408..749149hg19UCSC Ensembl
Cytoband2p25.3
Allele length
AssemblyAllele length
hg38303742
hg19303742
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14103800
Samplessample113
Known GenesTMEM18
MethodOligo aCGH
Analysis
Platform
Comments
ReferenceLu_et_al_2017
Pubmed ID28705883
Accession Number(s)nsv3116627
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