A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv482126



Internal ID15234599
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:144496726..144502120hg38UCSC Ensembl
Outerchr8:145722109..145727503hg19UCSC Ensembl
Outerchr8:145692917..145698311hg18UCSC Ensembl
Outerchr8:145692917..145698311hg17UCSC Ensembl
Cytoband8q24.3
Allele length
AssemblyAllele length
hg385395
hg195395
hg185395
hg175395
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv558487
SamplesKB1
Known GenesPPP1R16A
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
CommentsPPP1R16A
ReferenceSchuster_et_al_2010
Pubmed ID20164927
Accession Number(s)nsv482126
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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