A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv558407



Internal ID15581220
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:47778585..47784682hg38UCSC Ensembl
Outerchr19:48281842..48287939hg19UCSC Ensembl
Outerchr19:52973654..52979751hg18UCSC Ensembl
Outerchr19:52973654..52979751hg17UCSC Ensembl
Cytoband19q13.32
Allele length
AssemblyAllele length
hg386098
hg196098
hg186098
hg176098
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv482046
Supporting Variants
SamplesKB1
Known GenesSEPW1
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
CommentsSEPW1
ReferenceSchuster_et_al_2010
Pubmed ID20164927
Accession Number(s)nssv558407
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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