A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv314



Internal ID15201033
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:47540012..47584704hg38UCSC Ensembl
Outerchr11:47561564..47606256hg19UCSC Ensembl
Outerchr11:47518140..47562832hg18UCSC Ensembl
Outerchr11:47518140..47562832hg17UCSC Ensembl
Cytoband11p11.2
Allele length
AssemblyAllele length
hg3844693
hg1944693
hg1844693
hg1744693
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv8911
SamplesNA12156
Known GenesCELF1, KBTBD4, NDUFS3, PTPMT1
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)nsv314
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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