A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv482168



Internal ID15234641
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:1702731..1724352hg38UCSC Ensembl
Outerchr1:1634170..1655791hg19UCSC Ensembl
Outerchr1:1624030..1645651hg18UCSC Ensembl
Outerchr1:1666332..1687953hg17UCSC Ensembl
Cytoband1p36.33
Allele length
AssemblyAllele length
hg3821622
hg1921622
hg1821622
hg1721622
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv558529
SamplesKB1
Known GenesCDK11A, CDK11B
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
CommentsCDC2L2
ReferenceSchuster_et_al_2010
Pubmed ID20164927
Accession Number(s)nsv482168
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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