A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv7694



Internal ID8519711
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:17542885..17564957hg38UCSC Ensembl
Outerchr11:17564432..17586504hg19UCSC Ensembl
Outerchr11:17521008..17543080hg18UCSC Ensembl
Outerchr11:17521008..17543080hg17UCSC Ensembl
Cytoband11p15.1
Allele length
AssemblyAllele length
hg384960
hg194960
hg184960
hg174960
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3930
SamplesNA12878
Known GenesOTOG, USH1C
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)nsv7694
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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