A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv558582



Internal ID15234475
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:42580243..42594930hg38UCSC Ensembl
Outerchr19:43084395..43099082hg19UCSC Ensembl
Outerchr19:47776235..47790922hg18UCSC Ensembl
Outerchr19:47776235..47790922hg17UCSC Ensembl
Cytoband19q13.2
Allele length
AssemblyAllele length
hg3814688
hg1914688
hg1814688
hg1714688
Variant TypeCNV gain
Copy Number4
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv482221
Supporting Variants
SamplesKB1
Known GenesCEACAM8, LIPE-AS1
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
CommentsCEACAM8
ReferenceSchuster_et_al_2010
Pubmed ID20164927
Accession Number(s)nssv558582
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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