A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14105236



Internal ID21278907
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:233587832..233638067hg38UCSC Ensembl
Innerchr2:234496478..234546713hg19UCSC Ensembl
Cytoband2q37.1
Allele length
AssemblyAllele length
hg3850236
hg1950236
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3116399
Supporting Variants
Samplessample275
Known GenesUGT1A10, UGT1A8
MethodOligo aCGH
Analysis
Platform
Comments
ReferenceLu_et_al_2017
Pubmed ID28705883
Accession Number(s)nssv14105236
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