A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv4016196



Internal ID22077827
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:233741958..233757196hg38UCSC Ensembl
Outerchr2:233736917..233758936hg38UCSC Ensembl
Innerchr2:234650604..234665842hg19UCSC Ensembl
Outerchr2:234645563..234667582hg19UCSC Ensembl
Cytoband2q37.1
Allele length
AssemblyAllele length
hg3822020
hg1922020
Variant TypeCNV duplication
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1155927
Supporting Variants
Samples
Known GenesDNAJB3, LOC100286922, UGT1A10, UGT1A3, UGT1A4, UGT1A5, UGT1A6, UGT1A7, UGT1A8, UGT1A9
MethodSNP array
AnalysisDefault settings
Platform
Comments
ReferenceLou_et_al_2014
Pubmed ID25026903
Accession Number(s)nssv4016196
Frequency
Sample Size131
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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