A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3469



Internal ID15548081
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr21:18059212..18082567hg38UCSC Ensembl
Outerchr21:19431530..19454885hg19UCSC Ensembl
Outerchr21:18353401..18376756hg18UCSC Ensembl
Outerchr21:18353401..18376756hg17UCSC Ensembl
Cytoband21q21.1
Allele length
AssemblyAllele length
hg386800
hg196800
hg186800
hg176800
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1619
SamplesNA19240
Known GenesCHODL
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)nsv3469
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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