A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1406



Internal ID5085903
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr14:94827503..94860849hg19UCSC Ensembl
Outerchr14:93897256..93930602hg18UCSC Ensembl
Outerchr14:93897256..93930602hg17UCSC Ensembl
Cytoband14q32.13
Allele length
AssemblyAllele length
hg195941
hg185941
hg175941
Variant TypeCNV Insertion
Copy Number
Allele State
Allele OriginNot tested
Probe Count
Merged StatusS
Merged Variants
Supporting Variantsnssv5522
SamplesNA19129
Known GenesSERPINA1
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)nsv1406
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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