A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv471409



Internal ID15558575
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:42867206..42879719hg38UCSC Ensembl
Outerchr19:43371358..43383871hg19UCSC Ensembl
Outerchr19:48063198..48075711hg18UCSC Ensembl
Outerchr19:48063198..48075711hg17UCSC Ensembl
Cytoband19q13.2
Allele length
AssemblyAllele length
hg3812514
hg1912514
hg1812514
hg1712514
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv548198, nssv548197, nssv548196
SamplesNA18507, YH, JDW
Known GenesPSG1
MethodSequencing
AnalysisUsing absolute estimates of copy number, we calculated an in silico log2 ratio for each of the three genome-wide comparisons and compared it with the experimental values determined by array CGH.
PlatformIllumina Genome Analyzer and Roche/454 sequencer. For arrayCGH validation experiments we used Nimblegen
CommentsPSG1
ReferenceAlkan_et_al_2009
Pubmed ID19718026
Accession Number(s)nsv471409
Frequency
Sample Size3
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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