A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3450



Internal ID15548061
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr20:64124406..64158380hg38UCSC Ensembl
Outerchr20:62755759..62789733hg19UCSC Ensembl
Outerchr20:62226203..62260177hg18UCSC Ensembl
Outerchr20:62226203..62260177hg17UCSC Ensembl
Cytoband20q13.33
Allele length
AssemblyAllele length
hg385466
hg195466
hg185466
hg175466
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv7703
SamplesNA12156
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)nsv3450
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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