A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv482133



Internal ID15234606
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr9:136940436..136944721hg38UCSC Ensembl
Outerchr9:139834888..139839173hg19UCSC Ensembl
Outerchr9:138954709..138958994hg18UCSC Ensembl
Outerchr9:137110725..137115010hg17UCSC Ensembl
Cytoband9q34.3
Allele length
AssemblyAllele length
hg384286
hg194286
hg184286
hg174286
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv558494
SamplesKB1
Known GenesFBXW5
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
CommentsFBXW5
ReferenceSchuster_et_al_2010
Pubmed ID20164927
Accession Number(s)nsv482133
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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