A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv498



Internal ID5091247
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:114108506..114131379hg19UCSC Ensembl
Outerchr11:113613716..113636589hg18UCSC Ensembl
Outerchr11:113613716..113636589hg17UCSC Ensembl
Cytoband11q23.2
Allele length
AssemblyAllele length
hg196190
hg186190
hg176190
Variant TypeCNV Loss
Copy Number
Allele State
Allele OriginNot tested
Probe Count
Merged StatusS
Merged Variants
Supporting Variantsnssv5378
SamplesNA19129
Known GenesZBTB16
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)nsv498
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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