A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1427



Internal ID8512972
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr14:102014237..102048379hg38UCSC Ensembl
Outerchr14:102480574..102514716hg19UCSC Ensembl
Outerchr14:101550327..101584469hg18UCSC Ensembl
Outerchr14:101550327..101584469hg17UCSC Ensembl
Cytoband14q32.31
Allele length
AssemblyAllele length
hg385296
hg195296
hg185296
hg175296
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv9241
SamplesNA12156
Known GenesDYNC1H1
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)nsv1427
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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