A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv7693



Internal ID8519710
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:17535241..17580224hg38UCSC Ensembl
Outerchr11:17556788..17601771hg19UCSC Ensembl
Outerchr11:17513364..17558347hg18UCSC Ensembl
Outerchr11:17513364..17558347hg17UCSC Ensembl
Cytoband11p15.1
Allele length
AssemblyAllele length
hg3844984
hg1944984
hg1844984
hg1744984
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv8887
SamplesNA12156
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)nsv7693
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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