A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv482158



Internal ID8548353
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:17385251..17388659hg38UCSC Ensembl
Outerchr11:17406798..17410206hg19UCSC Ensembl
Outerchr11:17363374..17366782hg18UCSC Ensembl
Outerchr11:17363374..17366782hg17UCSC Ensembl
Cytoband11p15.1
Allele length
AssemblyAllele length
hg383409
hg193409
hg183409
hg173409
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv558519
SamplesKB1
Known GenesKCNJ11
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
CommentsKCNJ11
ReferenceSchuster_et_al_2010
Pubmed ID20164927
Accession Number(s)nsv482158
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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