A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3368



Internal ID15201284
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr20:36121322..36155776hg38UCSC Ensembl
Outerchr20:34709244..34743698hg19UCSC Ensembl
Outerchr20:34172658..34207112hg18UCSC Ensembl
Outerchr20:34172658..34207112hg17UCSC Ensembl
Cytoband20q11.23
Allele length
AssemblyAllele length
hg385286
hg195286
hg185286
hg175286
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv4531
SamplesNA12878
Known GenesEPB41L1
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)nsv3368
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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