A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv482162



Internal ID6080841
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:111779350..111782473hg19UCSC Ensembl
Outerchr11:111284560..111287683hg18UCSC Ensembl
Outerchr11:111284560..111287683hg17UCSC Ensembl
Cytoband11q23.1
Allele length
AssemblyAllele length
hg19n/a
hg18n/a
hg17n/a
Variant TypeCNV Loss
Copy Number
Allele State
Allele OriginNot tested
Probe Count
Merged StatusS
Merged Variants
Supporting Variantsnssv558523
SamplesKB1
Known GenesCRYAB
MethodBAC_aCGH
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
CommentsCRYAB
ReferenceSchuster et al 2010
Pubmed ID20164927
Accession Number(s)nsv482162
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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