A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv462



Internal ID5085109
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:102438671..102471357hg19UCSC Ensembl
Outerchr11:101943881..101976567hg18UCSC Ensembl
Outerchr11:101943881..101976567hg17UCSC Ensembl
Cytoband11q22.2
Allele length
AssemblyAllele length
hg198306
hg188306
hg178306
Variant TypeCNV Insertion
Copy Number
Allele State
Allele OriginNot tested
Probe Count
Merged StatusS
Merged Variants
Supporting Variantsnssv1035
SamplesNA19240
Known GenesMMP20
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)nsv462
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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