A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1390



Internal ID15199267
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr14:88629885..88662958hg38UCSC Ensembl
Outerchr14:89096229..89129302hg19UCSC Ensembl
Outerchr14:88165982..88199055hg18UCSC Ensembl
Outerchr14:88165982..88199055hg17UCSC Ensembl
Cytoband14q31.3
Allele length
AssemblyAllele length
hg386362
hg196362
hg186362
hg176362
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv9228
SamplesNA12156
Known GenesEML5
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)nsv1390
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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