A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv558445



Internal ID15581161
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:52221082..52226163hg38UCSC Ensembl
Outerchr3:52255098..52260179hg19UCSC Ensembl
Outerchr3:52230138..52235219hg18UCSC Ensembl
Outerchr3:52230138..52235219hg17UCSC Ensembl
Cytoband3p21.1
Allele length
AssemblyAllele length
hg385082
hg195082
hg185082
hg175082
Variant TypeCNV gain
Copy Number4
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv482084
Supporting Variants
SamplesKB1
Known GenesTLR9
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
CommentsTLR9
ReferenceSchuster_et_al_2010
Pubmed ID20164927
Accession Number(s)nssv558445
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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