A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv507



Internal ID5091237
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:116634219..116674786hg19UCSC Ensembl
Outerchr11:116139429..116179996hg18UCSC Ensembl
Outerchr11:116139429..116179996hg17UCSC Ensembl
Cytoband11q23.3
Allele length
AssemblyAllele length
hg196395
hg186395
hg176395
Variant TypeCNV Loss
Copy Number
Allele State
Allele OriginNot tested
Probe Count
Merged StatusS
Merged Variants
Supporting Variantsnssv1042
SamplesNA19240
Known GenesAPOA5, BUD13, ZNF259
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)nsv507
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