A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv482049



Internal ID15581256
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:20447074..20449439hg38UCSC Ensembl
Outerchr2:20646835..20649200hg19UCSC Ensembl
Outerchr2:20510316..20512681hg18UCSC Ensembl
Outerchr2:20568463..20570828hg17UCSC Ensembl
Cytoband2p24.1
Allele length
AssemblyAllele length
hg382366
hg192366
hg182366
hg172366
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv558410
SamplesKB1
Known GenesRHOB
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
CommentsRHOB
ReferenceSchuster_et_al_2010
Pubmed ID20164927
Accession Number(s)nsv482049
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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