A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5943



Internal ID5090296
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr10:17098809..17131203hg19UCSC Ensembl
Outerchr10:17138815..17171209hg18UCSC Ensembl
Outerchr10:17138815..17171209hg17UCSC Ensembl
Cytoband10p13
Allele length
AssemblyAllele length
hg196830
hg186830
hg176830
Variant TypeCNV Insertion
Copy Number
Allele State
Allele OriginNot tested
Probe Count
Merged StatusS
Merged Variants
Supporting Variantsnssv5249
SamplesNA19129
Known GenesCUBN
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)nsv5943
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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