A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1308



Internal ID15199185
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr14:64534222..64565920hg38UCSC Ensembl
Outerchr14:65000940..65032638hg19UCSC Ensembl
Outerchr14:64070693..64102391hg18UCSC Ensembl
Outerchr14:64070693..64102391hg17UCSC Ensembl
Cytoband14q23.3
Allele length
AssemblyAllele length
hg386486
hg196486
hg186486
hg176486
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv9206
SamplesNA12156
Known GenesHSPA2, PPP1R36
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)nsv1308
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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