A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv482107



Internal ID15234580
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:76510428..76527880hg38UCSC Ensembl
Outerchr7:76139745..76157197hg19UCSC Ensembl
Outerchr7:75977681..75995133hg18UCSC Ensembl
Outerchr7:75784396..75801848hg17UCSC Ensembl
Cytoband7q11.23
Allele length
AssemblyAllele length
hg3817453
hg1917453
hg1817453
hg1717453
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv558468
SamplesKB1
Known GenesUPK3B
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
CommentsUPK3B
ReferenceSchuster_et_al_2010
Pubmed ID20164927
Accession Number(s)nsv482107
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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