A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv373



Internal ID15548368
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:68810662..68836250hg38UCSC Ensembl
Outerchr11:68578130..68603718hg19UCSC Ensembl
Outerchr11:68334706..68360294hg18UCSC Ensembl
Outerchr11:68334706..68360294hg17UCSC Ensembl
Cytoband11q13.2
Allele length
AssemblyAllele length
hg3825589
hg1925589
hg1825589
hg1725589
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv8928
SamplesNA12156
Known GenesCPT1A
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)nsv373
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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