A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3279



Internal ID15547872
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr20:7382273..7427619hg38UCSC Ensembl
Outerchr20:7362920..7408266hg19UCSC Ensembl
Outerchr20:7310920..7356266hg18UCSC Ensembl
Outerchr20:7310920..7356266hg17UCSC Ensembl
Cytoband20p12.3
Allele length
AssemblyAllele length
hg3845347
hg1945347
hg1845347
hg1745347
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv6928
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)nsv3279
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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