A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3308



Internal ID15547904
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr20:17401489..17434824hg38UCSC Ensembl
Outerchr20:17382134..17415469hg19UCSC Ensembl
Outerchr20:17330134..17363469hg18UCSC Ensembl
Outerchr20:17330134..17363469hg17UCSC Ensembl
Cytoband20p12.1
Allele length
AssemblyAllele length
hg385950
hg195950
hg185950
hg175950
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv5869
SamplesNA19129
Known GenesPCSK2
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)nsv3308
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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