A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv393



Internal ID15201902
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:74424817..74470372hg38UCSC Ensembl
Outerchr11:74135862..74181417hg19UCSC Ensembl
Outerchr11:73813510..73859065hg18UCSC Ensembl
Outerchr11:73813510..73859065hg17UCSC Ensembl
Cytoband11q13.4
Allele length
AssemblyAllele length
hg3845556
hg1945556
hg1845556
hg1745556
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv6469
SamplesNA12156
Known GenesKCNE3
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)nsv393
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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