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Review
. 2018 Oct;49(10):2549-2554.
doi: 10.1161/STROKEAHA.118.020371.

Copy Number Variation and Risk of Stroke

Caspar Grond-Ginsbach  1 , Philipp Erhart  2 , Bowang Chen  3 , Manja Kloss  1 , Stefan T Engelter  4   5 , John W Cole  6
Affiliations
Review

Copy Number Variation and Risk of Stroke

Caspar Grond-Ginsbach et al. Stroke. 2018 Oct.
No abstract available

Keywords: comparative genomic hybridization; genomics; incidental findings; polymorphism, single nucleotide; stroke.

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Conflict of interest statement

Conflict of Interest Disclosures

None.

Figures

Figure 1.
Figure 1.. Types of genetic variation, ranked according to size (length of DNA in base pairs), detection methods, clinical impact and population frequency
SNP = single nucleotide polymorphism; indel = short insertion / deletion; VNTR = variable number of tandem repeats; LINE/SINE = long / short interspersed repetitive elements; FISH = fluorescent-labeled in-situ hybridization; LM = light-microscopy. NGS = next generation sequencing.
Figure 2.
Figure 2.. CNV detection using SNP-microarrays
Fig. 2A. All annotated short variants from dbSNP (https://www.ncbi.nlm.nih.gov/SNP/), distributed over 100 Kb bins along chromosome 17; Fig. 2B: all SNPs from chromosome 17 of the Illumina Omni 5 exome platform; Fig 2C. All CNVs of human chromosome 17 from the Database of Genomic Variants (DGV: http://dgv.tcag.ca/dgv/app/home); Fig. 2D. Idiogram of chromosome 17. Red bars delineate regions of uncertain mapping due to segmental duplications. Arrows point to regions with low SNP density in dbSNP. The low SNP-density is not outbalanced by SNP selection for the Illumina platform. Regions with low SNP density on the Illumina array appear to be very rich in CNV. Arrowhead indicates peri-centromeric region.
See this image and copyright information in PMC

References

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