A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv482195



Internal ID15234668
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:70113626..70161281hg38UCSC Ensembl
Outerchr16:70147529..70195184hg19UCSC Ensembl
Outerchr16:68705030..68752685hg18UCSC Ensembl
Outerchr16:68705030..68752685hg17UCSC Ensembl
Cytoband16q22.1
Allele length
AssemblyAllele length
hg3847656
hg1947656
hg1847656
hg1747656
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv558556
SamplesKB1
Known GenesPDPR
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
CommentsPDPR
ReferenceSchuster_et_al_2010
Pubmed ID20164927
Accession Number(s)nsv482195
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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