A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1294



Internal ID15545857
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr14:60412426..60457483hg38UCSC Ensembl
Outerchr14:60879144..60924201hg19UCSC Ensembl
Outerchr14:59948897..59993954hg18UCSC Ensembl
Outerchr14:59948897..59993954hg17UCSC Ensembl
Cytoband14q23.1
Allele length
AssemblyAllele length
hg3845058
hg1945058
hg1845058
hg1745058
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv9201
SamplesNA12156
Known GenesC14orf39
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)nsv1294
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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