A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv482062



Internal ID15581269
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:240568687..240578724hg38UCSC Ensembl
Outerchr2:241508104..241518141hg19UCSC Ensembl
Outerchr2:241156777..241166814hg18UCSC Ensembl
Outerchr2:241228094..241238131hg17UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg3810038
hg1910038
hg1810038
hg1710038
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv558423
SamplesKB1
Known GenesRNPEPL1
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
CommentsRNPEPL1
ReferenceSchuster_et_al_2010
Pubmed ID20164927
Accession Number(s)nsv482062
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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