A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv498



Internal ID8516725
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:114237784..114260657hg38UCSC Ensembl
Outerchr11:114108506..114131379hg19UCSC Ensembl
Outerchr11:113613716..113636589hg18UCSC Ensembl
Outerchr11:113613716..113636589hg17UCSC Ensembl
Cytoband11q23.2
Allele length
AssemblyAllele length
hg3822874
hg1922874
hg1822874
hg1722874
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv5378
SamplesNA19129
Known GenesZBTB16
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)nsv498
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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