A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv518



Internal ID15203277
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:120203271..120237440hg38UCSC Ensembl
Outerchr11:120073979..120108149hg19UCSC Ensembl
Outerchr11:119579189..119613359hg18UCSC Ensembl
Outerchr11:119579189..119613359hg17UCSC Ensembl
Cytoband11q23.3
Allele length
AssemblyAllele length
hg385263
hg195263
hg185263
hg175263
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv8968
SamplesNA12156
Known GenesOAF, POU2F3
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)nsv518
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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