A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv367



Internal ID15201616
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:67339032..67355060hg38UCSC Ensembl
Outerchr11:67106503..67122531hg19UCSC Ensembl
Outerchr11:66863079..66879107hg18UCSC Ensembl
Outerchr11:66863079..66879107hg17UCSC Ensembl
Cytoband11q13.1
Allele length
AssemblyAllele length
hg3817338
hg1917338
hg1817338
hg1717338
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv6466
SamplesNA12156
Known GenesLOC100130987, POLD4
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)nsv367
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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