A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv423



Internal ID15548918
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:87496681..87541723hg38UCSC Ensembl
Outerchr11:87207723..87252615hg19UCSC Ensembl
Outerchr11:86885371..86930263hg18UCSC Ensembl
Outerchr11:86885371..86930263hg17UCSC Ensembl
Cytoband11q14.2
Allele length
AssemblyAllele length
hg3845043
hg1944893
hg1844893
hg1744893
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv8944
SamplesNA12156
Known Genes
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)nsv423
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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