A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv482077



Internal ID15234737
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr22:38982400..38992778hg38UCSC Ensembl
Outerchr22:39378405..39388783hg19UCSC Ensembl
Outerchr22:37708351..37718729hg18UCSC Ensembl
Outerchr22:37702905..37713283hg17UCSC Ensembl
Cytoband22q13.1
Allele length
AssemblyAllele length
hg3810379
hg1910379
hg1810379
hg1710379
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv558438
SamplesKB1
Known GenesAPOBEC3A_B, APOBEC3B, APOBEC3B-AS1
MethodSequencing
AnalysisWe constructed duplication maps for the KB1 genome and estimated the absolute copy number of each duplication interval larger than 20 kb in length. Using absolute estimates of copy number, we calculated an in silico log2 ratio for each the KB1 genome and compared copy number predictions with previously published copy numbers detected in NA18507 and YH genomes.
PlatformIllumina Genome Analyzer and Roche/454 sequencer. For arrayCGH validation experiments we used Nimblegen
CommentsAPOBEC3B
ReferenceSchuster_et_al_2010
Pubmed ID20164927
Accession Number(s)nsv482077
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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