A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1427



Internal ID5086570
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr14:102480574..102514716hg19UCSC Ensembl
Outerchr14:101550327..101584469hg18UCSC Ensembl
Outerchr14:101550327..101584469hg17UCSC Ensembl
Cytoband14q32.31
Allele length
AssemblyAllele length
hg195296
hg185296
hg175296
Variant TypeCNV Insertion
Copy Number
Allele State
Allele OriginNot tested
Probe Count
Merged StatusS
Merged Variants
Supporting Variantsnssv9241
SamplesNA12156
Known GenesDYNC1H1
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)nsv1427
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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