A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv482213



Internal ID15234686
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:11377799..11384343hg38UCSC Ensembl
Outerchr19:11488475..11495019hg19UCSC Ensembl
Outerchr19:11349475..11356019hg18UCSC Ensembl
Outerchr19:11349475..11356019hg17UCSC Ensembl
Cytoband19p13.2
Allele length
AssemblyAllele length
hg386545
hg196545
hg186545
hg176545
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv558574
SamplesKB1
Known GenesEPOR
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
CommentsEPOR
ReferenceSchuster_et_al_2010
Pubmed ID20164927
Accession Number(s)nsv482213
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer