A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3284



Internal ID15201192
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr20:9303616..9333803hg38UCSC Ensembl
Outerchr20:9284263..9314450hg19UCSC Ensembl
Outerchr20:9232263..9262450hg18UCSC Ensembl
Outerchr20:9232263..9262450hg17UCSC Ensembl
Cytoband20p12.2
Allele length
AssemblyAllele length
hg389089
hg199089
hg189089
hg179089
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv5866
SamplesNA19129
Known GenesPLCB4
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)nsv3284
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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