A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1304



Internal ID15545867
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr14:63123936..63168275hg38UCSC Ensembl
Outerchr14:63590654..63634993hg19UCSC Ensembl
Outerchr14:62660407..62704746hg18UCSC Ensembl
Outerchr14:62660407..62704746hg17UCSC Ensembl
Cytoband14q23.2
Allele length
AssemblyAllele length
hg3844340
hg1944340
hg1844340
hg1744340
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2076
SamplesNA18555
Known Genes
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)nsv1304
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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