A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv482128



Internal ID15581335
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr9:14511..29739hg38UCSC Ensembl
Outerchr9:14511..29739hg19UCSC Ensembl
Outerchr9:4511..19739hg18UCSC Ensembl
Outerchr9:4511..19739hg17UCSC Ensembl
Cytoband9p24.3
Allele length
AssemblyAllele length
hg3815229
hg1915229
hg1815229
hg1715229
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv558489
SamplesKB1
Known GenesDDX11L5, WASH1
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
CommentsWASH1
ReferenceSchuster_et_al_2010
Pubmed ID20164927
Accession Number(s)nsv482128
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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