A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv482220



Internal ID15234693
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:41708611..41730516hg38UCSC Ensembl
Outerchr19:42212530..42234436hg19UCSC Ensembl
Outerchr19:46904370..46926276hg18UCSC Ensembl
Outerchr19:46904370..46926276hg17UCSC Ensembl
Cytoband19q13.2
Allele length
AssemblyAllele length
hg3821906
hg1921907
hg1821907
hg1721907
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv558581
SamplesKB1
Known GenesCEACAM5
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
CommentsCEACAM5
ReferenceSchuster_et_al_2010
Pubmed ID20164927
Accession Number(s)nsv482220
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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