A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv473



Internal ID15549468
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:106625146..106660602hg38UCSC Ensembl
Outerchr11:106495872..106531328hg19UCSC Ensembl
Outerchr11:106001082..106036538hg18UCSC Ensembl
Outerchr11:106001082..106036538hg17UCSC Ensembl
Cytoband11q22.3
Allele length
AssemblyAllele length
hg384284
hg194284
hg184284
hg174284
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3987
SamplesNA12878
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)nsv473
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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