A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3215



Internal ID5087918
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:234631123..234670276hg19UCSC Ensembl
Outerchr2:234295862..234335015hg18UCSC Ensembl
Outerchr2:234413123..234452276hg17UCSC Ensembl
Cytoband2q37.1
Allele length
AssemblyAllele length
hg1915859
hg1815859
hg1715859
Variant TypeCNV Loss
Copy Number
Allele State
Allele OriginNot tested
Probe Count
Merged StatusS
Merged Variants
Supporting Variantsnssv9361
SamplesNA18517
Known GenesDNAJB3, LOC100286922, UGT1A1, UGT1A10, UGT1A3, UGT1A4, UGT1A5, UGT1A6, UGT1A7, UGT1A8, UGT1A9
Method
AnalysisSample level sites were merged to generate a set of non-redundant variant regions. Two non-redundant inversion variants (chr 2 positions 89438708-89655419 and 89958869-91208466) were corrected from the original publication for coordinates and associated sample-level data.
PlatformCapillary
Comments
ReferenceKidd et al 2008
Pubmed ID18451855
Accession Number(s)nsv3215
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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