A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv558523



Internal ID15234416
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:111908626..111911749hg38UCSC Ensembl
Outerchr11:111779350..111782473hg19UCSC Ensembl
Outerchr11:111284560..111287683hg18UCSC Ensembl
Outerchr11:111284560..111287683hg17UCSC Ensembl
Cytoband11q23.1
Allele length
AssemblyAllele length
hg383124
hg193124
hg183124
hg173124
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv482162
Supporting Variants
SamplesKB1
Known GenesCRYAB
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
CommentsCRYAB
ReferenceSchuster_et_al_2010
Pubmed ID20164927
Accession Number(s)nssv558523
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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