Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
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.

PubMed Disclaimer

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

Similar articles

See all similar articles

Cited by

  • Genetic analysis reveals novel variants for vascular cognitive impairment.
    Mönkäre S, Kuuluvainen L, Schleutker J, Bras J, Roine S, Pöyhönen M, Guerreiro R, Myllykangas L. Mönkäre S, et al. Acta Neurol Scand. 2022 Jul;146(1):42-50. doi: 10.1111/ane.13613. Epub 2022 Mar 20. Acta Neurol Scand. 2022. PMID: 35307828 Free PMC article.
  • The copy number variation and stroke (CaNVAS) risk and outcome study.
    Cole JW, Adigun T, Akinyemi R, Akpa OM, Bell S, Chen B, Jimenez Conde J, Lazcano Dobao U, Fernandez I, Fornage M, Gallego-Fabrega C, Jern C, Krawczak M, Lindgren A, Markus HS, Melander O, Owolabi M, Schlicht K, Söderholm M, Srinivasasainagendra V, Soriano Tárraga C, Stenman M, Tiwari H, Corasaniti M, Fecteau N, Guizzardi B, Lopez H, Nguyen K, Gaynor B, O'Connor T, Stine OC, Kittner SJ, McArdle P, Mitchell BD, Xu H, Grond-Ginsbach C. Cole JW, et al. PLoS One. 2021 Apr 19;16(4):e0248791. doi: 10.1371/journal.pone.0248791. eCollection 2021. PLoS One. 2021. PMID: 33872305 Free PMC article.
  • Genetic Imbalance Is Associated With Functional Outcome After Ischemic Stroke.
    Pfeiffer D, Chen B, Schlicht K, Ginsbach P, Abboud S, Bersano A, Bevan S, Brandt T, Caso V, Debette S, Erhart P, Freitag-Wolf S, Giacalone G, Grau AJ, Hayani E, Jern C, Jiménez-Conde J, Kloss M, Krawczak M, Lee JM, Lemmens R, Leys D, Lichy C, Maguire JM, Martin JJ, Metso AJ, Metso TM, Mitchell BD, Pezzini A, Rosand J, Rost NS, Stenman M, Tatlisumak T, Thijs V, Touzé E, Traenka C, Werner I, Woo D, Del Zotto E, Engelter ST, Kittner SJ, Cole JW, Grond-Ginsbach C, Lyrer PA, Lindgren A; CADISP; GISCOME; SiGN studies; and ISGC. Pfeiffer D, et al. Stroke. 2019 Feb;50(2):298-304. doi: 10.1161/STROKEAHA.118.021856. Stroke. 2019. PMID: 30661490 Free PMC article.
  • Advances in chromosomal microarray analysis: Transforming neurology and neurosurgery.
    Awuah WA, Shah MH, Sanker V, Mannan KM, Ranganathan S, Nkrumah-Boateng PA, Frimpong M, Darko K, Tan JK, Abdul-Rahman T, Atallah O. Awuah WA, et al. Brain Spine. 2025 Jan 25;5:104197. doi: 10.1016/j.bas.2025.104197. eCollection 2025. Brain Spine. 2025. PMID: 39990116 Free PMC article. Review.
  • A novel scatterplot-based method to detect copy number variation (CNV).
    Qiao JL, Levinson RT, Chen B, Engelter ST, Erhart P, Gaynor BJ, McArdle PF, Schlicht K, Krawczak M, Stenman M, Lindgren AG, Cole JW, Grond-Ginsbach C. Qiao JL, et al. Front Genet. 2023 Jul 6;14:1166972. doi: 10.3389/fgene.2023.1166972. eCollection 2023. Front Genet. 2023. PMID: 37485343 Free PMC article.
See all "Cited by" articles

References

    1. Valsesia A, Macé A, Jacquemont S, Beckmann JS, Kutalik Z. The Growing Importance of CNVs: New Insights for Detection and Clinical Interpretation. Front Genet. 2013;4:92. - PMC - PubMed
    1. Malik R, Chauhan G, Traylor M, Sargurupremraj M, Okada Y, Mishra A, Rutten-Jacobs L. Multiancestry genome-wide association study of 520,000 subjects identifies 32 loci associated with stroke and stroke subtypes. Nat Genet. 2018;50:524–537. - PMC - PubMed
    1. Diskin SJ, Li M, Hou C, Yang S, Glessner J, Hakonarson H, et al. Adjustment of genomic waves in signal intensities from whole-genome SNP genotyping platforms. Nucleic Acids Res. 2008;36,e126. - PMC - PubMed
    1. Ginsbach P, Chen B, Jiang Y, Engelter ST, Grond-Ginsbach C. Copy Number Studies in Noisy Samples. Microarrays (Basel). 2013;2:284–303. - PMC - PubMed
    1. Korbel JO, Kim PM, Chen X, Urban AE, Weissman S, Snyder M, et al. The current excitement about copy-number variation: how it relates to gene duplications and protein families. Curr Opin Struct Biol. 2008;18:366–374. - PMC - PubMed

Publication types

MeSH terms