A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv558553



Internal ID15234446
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:30949084..30954937hg38UCSC Ensembl
Outerchr16:30960405..30966258hg19UCSC Ensembl
Outerchr16:30867906..30873759hg18UCSC Ensembl
Outerchr16:30867906..30873759hg17UCSC Ensembl
Cytoband16p11.2
Allele length
AssemblyAllele length
hg385854
hg195854
hg185854
hg175854
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv482192
Supporting Variants
SamplesKB1
Known GenesORAI3
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
CommentsORAI3
ReferenceSchuster_et_al_2010
Pubmed ID20164927
Accession Number(s)nssv558553
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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