A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv482121



Internal ID15581328
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:12425617..12436343hg38UCSC Ensembl
Outerchr8:12283126..12293852hg19UCSC Ensembl
Outerchr8:12327497..12338223hg18UCSC Ensembl
Outerchr8:12327497..12338223hg17UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg3810727
hg1910727
hg1810727
hg1710727
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv558482
SamplesKB1
Known GenesFAM86B2
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
CommentsFAM86B2
ReferenceSchuster_et_al_2010
Pubmed ID20164927
Accession Number(s)nsv482121
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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