A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv482150



Internal ID15234623
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr10:133527363..133539116hg38UCSC Ensembl
Outerchr10:135340867..135352620hg19UCSC Ensembl
Outerchr10:135190857..135202610hg18UCSC Ensembl
Outerchr10:135229748..135241501hg17UCSC Ensembl
Cytoband10q26.3
Allele length
AssemblyAllele length
hg3811754
hg1911754
hg1811754
hg1711754
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv558511
SamplesKB1
Known GenesCYP2E1
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
CommentsCYP2E1
ReferenceSchuster_et_al_2010
Pubmed ID20164927
Accession Number(s)nsv482150
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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