A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv387



Internal ID15201836
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:73253689..73285467hg38UCSC Ensembl
Outerchr11:72964734..72996512hg19UCSC Ensembl
Outerchr11:72642382..72674160hg18UCSC Ensembl
Outerchr11:72642382..72674160hg17UCSC Ensembl
Cytoband11q13.4
Allele length
AssemblyAllele length
hg387732
hg197732
hg187732
hg177732
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv10829
SamplesNA18956
Known GenesP2RY6
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)nsv387
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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