A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv484



Internal ID15202903
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:110236065..110250844hg38UCSC Ensembl
Outerchr11:110106790..110121569hg19UCSC Ensembl
Outerchr11:109612000..109626779hg18UCSC Ensembl
Outerchr11:109612000..109626779hg17UCSC Ensembl
Cytoband11q22.3
Allele length
AssemblyAllele length
hg3814780
hg1914780
hg1814780
hg1714780
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv8961
SamplesNA12156
Known GenesRDX
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)nsv484
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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