A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv482073



Internal ID15234733
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr22:23971365..23979828hg38UCSC Ensembl
Outerchr22:24313554..24322019hg19UCSC Ensembl
Outerchr22:22643554..22652019hg18UCSC Ensembl
Outerchr22:22638108..22646573hg17UCSC Ensembl
Cytoband22q11.23
Allele length
AssemblyAllele length
hg388464
hg198466
hg188466
hg178466
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv558434
SamplesKB1
Known GenesDDT, DDTL
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
CommentsDDT
ReferenceSchuster_et_al_2010
Pubmed ID20164927
Accession Number(s)nsv482073
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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