A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv482163



Internal ID15581370
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:125746293..125749847hg38UCSC Ensembl
Outerchr11:125616188..125619742hg19UCSC Ensembl
Outerchr11:125121398..125124952hg18UCSC Ensembl
Outerchr11:125121398..125124952hg17UCSC Ensembl
Cytoband11q24.2
Allele length
AssemblyAllele length
hg383555
hg193555
hg183555
hg173555
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv558524
SamplesKB1
Known GenesPATE1
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
CommentsPATE1
ReferenceSchuster_et_al_2010
Pubmed ID20164927
Accession Number(s)nsv482163
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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