A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv482123



Internal ID15234596
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:142872359..142879820hg38UCSC Ensembl
Outerchr8:143953775..143961236hg19UCSC Ensembl
Outerchr8:143950777..143958238hg18UCSC Ensembl
Outerchr8:143950777..143958238hg17UCSC Ensembl
Cytoband8q24.3
Allele length
AssemblyAllele length
hg387462
hg197462
hg187462
hg177462
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv558484
SamplesKB1
Known GenesCYP11B1
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
CommentsCYP11B1
ReferenceSchuster_et_al_2010
Pubmed ID20164927
Accession Number(s)nsv482123
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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