A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv615



Internal ID15551030
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:13388923..13403979hg38UCSC Ensembl
Outerchr12:13541857..13556913hg19UCSC Ensembl
Outerchr12:13433124..13448180hg18UCSC Ensembl
Outerchr12:13433124..13448180hg17UCSC Ensembl
Cytoband12p13.1
Allele length
AssemblyAllele length
hg3815057
hg1915057
hg1815057
hg1715057
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv5403, nssv6493
SamplesNA12156, NA19129
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)nsv615
Frequency
Sample Size9
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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