A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv482065



Internal ID15234725
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr20:23045634..23049664hg38UCSC Ensembl
Outerchr20:23026271..23030301hg19UCSC Ensembl
Outerchr20:22974271..22978301hg18UCSC Ensembl
Outerchr20:22974271..22978301hg17UCSC Ensembl
Cytoband20p11.21
Allele length
AssemblyAllele length
hg384031
hg194031
hg184031
hg174031
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv558426
SamplesKB1
Known GenesTHBD
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
CommentsTHBD
ReferenceSchuster_et_al_2010
Pubmed ID20164927
Accession Number(s)nsv482065
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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