A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1406



Internal ID8512951
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr14:94361166..94394512hg38UCSC Ensembl
Outerchr14:94827503..94860849hg19UCSC Ensembl
Outerchr14:93897256..93930602hg18UCSC Ensembl
Outerchr14:93897256..93930602hg17UCSC Ensembl
Cytoband14q32.13
Allele length
AssemblyAllele length
hg385941
hg195941
hg185941
hg175941
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv5522
SamplesNA19129
Known GenesSERPINA1
MethodSequencing
AnalysisEnd-sequence pairs were mapped to the human genome assembly (hg17) using a previously described algorithm (Tuzun et al 2005)
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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