A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv548193



Internal ID15557909
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:42754233..42765679hg38UCSC Ensembl
Outerchr19:43258385..43269831hg19UCSC Ensembl
Outerchr19:47950225..47961671hg18UCSC Ensembl
Outerchr19:47950225..47961671hg17UCSC Ensembl
Cytoband19q13.2
Allele length
AssemblyAllele length
hg3811447
hg1911447
hg1811447
hg1711447
Variant TypeCNV gain
Copy Number13
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv471408
Supporting Variants
SamplesJDW
Known GenesPSG8
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
CommentsPSG8
ReferenceAlkan_et_al_2009
Pubmed ID19718026
Accession Number(s)nssv548193
Frequency
Sample Size3
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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