A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3850



Internal ID5086948
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:63926068..63971301hg19UCSC Ensembl
Outerchr3:63901108..63946341hg18UCSC Ensembl
Outerchr3:63901108..63946341hg17UCSC Ensembl
Cytoband3p14.1
Allele length
AssemblyAllele length
hg195796
hg185796
hg175796
Variant TypeCNV Loss
Copy Number
Allele State
Allele OriginNot tested
Probe Count
Merged StatusS
Merged Variants
Supporting Variantsnssv7817
SamplesNA12156
Known GenesATXN7
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)nsv3850
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