A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv558579



Internal ID15581150
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:39863323..39934626hg38UCSC Ensembl
Outerchr19:40353963..40440533hg19UCSC Ensembl
Outerchr19:45045803..45132373hg18UCSC Ensembl
Outerchr19:45045803..45132373hg17UCSC Ensembl
Cytoband19q13.2
Allele length
AssemblyAllele length
hg3871304
hg1986571
hg1886571
hg1786571
Variant TypeCNV gain
Copy Number6
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv482218
Supporting Variants
SamplesKB1
Known GenesFCGBP
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
CommentsFCGBP
ReferenceSchuster_et_al_2010
Pubmed ID20164927
Accession Number(s)nssv558579
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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