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Related Concept Videos

Comparing Copy Number Variations and SNPs02:26

Comparing Copy Number Variations and SNPs

19.1K
Sequencing of the human genome has opened up several best-kept secrets of the genome. Scientists have identified thousands of genome variations that exist within a population. These variations can be a single nucleotide or a larger chromosomal variation.
Copy number variations or CNVs are the structural variations that cover more than 1kb of DNA sequence. The single nucleotide polymorphism (SNP), on the other hand, is a single nucleotide change or a point mutation that is found in more than 1%...
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Single Nucleotide Polymorphisms-SNPs01:05

Single Nucleotide Polymorphisms-SNPs

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A single nucleotide polymorphism or SNP is a single nucleotide variation at a specific genomic position in a large population. It is the most prevalent type of sequence variation found in the human genome. Point mutations that occur in more than 1% of the population qualify as SNPs. These are present once every 1000 nucleotides on an average in the human genome. Replacement of a purine with another purine (A/G) or a pyrimidine with another pyrimidine (C/T) is known as a transition. In contrast,...
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Principles of Pharmacogenetics: Types of Genetic Variants01:27

Principles of Pharmacogenetics: Types of Genetic Variants

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The human genome is over 99.9% identical between individuals, yet genetic differences exist at millions of bases. The human genome contains approximately 3 million variant positions per individual, many of which are heterozygous, contributing to genetic diversity and individual traits. Genetic variations include single-nucleotide polymorphisms (SNPs), insertions, deletions, and copy number variations (CNVs).SNPs, the most common variation, involve single-base changes in DNA. These can be...
73
Genetic Variation01:25

Genetic Variation

1.5K
Genetic variation is the diversity in DNA sequences found among individuals of the same species. This diversity is crucial for a species' survival because it helps organisms adapt to environmental changes. Genetic variation begins with fertilization, where an egg and sperm cell merge. Each of these cells carries 23 chromosomes, up to 46 in the fertilized egg. Chromosomes are long DNA strands that contain genes, the basic units of heredity.
Genes exist in different versions called alleles,...
1.5K
Genome Copying Errors02:46

Genome Copying Errors

5.4K
DNA replication is a well-evolved process that copies millions of base pairs with high fidelity during each cell division. Occasionally a wrong base or a long stretch of wrong bases may get added to the daughter strands. If the errors are left unchecked, cells might accumulate several mutations that might endanger their  survival. Therefore, the copying errors are checked and repaired at three levels.
5.4K
Point and Frameshift Mutations01:30

Point and Frameshift Mutations

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Point mutations are genetic alterations involving the change of a single nucleotide base pair in DNA. Depending on how the alteration affects protein synthesis, they can lead to various consequences.Point mutations fall into the following types:Silent mutations occur when a nucleotide change does not alter the amino acid sequence due to the redundancy of the genetic code. For instance, changing ACC to ACA still encodes threonine, leaving the protein function unaffected. This occurs because...
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Related Experiment Video

Updated: Mar 18, 2026

Pre-Implantation Genetic Testing for Aneuploidy on a Semiconductor Based Next-Generation Sequencing Platform
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Copy number variations and stroke.

Valeria Colaianni1, Rosalucia Mazzei2, Sebastiano Cavallaro1

  • 1Institute of Neurological Sciences, CNR, National Research Council, Loc.Burga, 87050, Mangone, CS, Italy.

Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology
|July 10, 2016
PubMed
Summary

Copy number variants (CNVs) are increasingly recognized as a genetic factor in stroke. This review explores CNVs

Keywords:
Comparative genome hybridization (CGH) arraysDNA copy number variantsSingle-nucleotide polymorphism (SNP) arraysStroke

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Area of Science:

  • Genomics
  • Neurology
  • Cardiovascular Research

Background:

  • Stroke is a leading global cause of death, influenced by genetic and environmental factors.
  • Cerebral blood vessel damage underlies stroke pathology.
  • Genomic research has identified copy number variants (CNVs) as significant contributors to various diseases.

Purpose of the Study:

  • To review the current understanding of stroke types.
  • To summarize existing knowledge on the involvement of specific CNVs in stroke.
  • To discuss the limitations of current CNV detection methods.

Main Methods:

  • Literature review of genomic studies on stroke.
  • Analysis of copy number variant (CNV) detection methodologies.
  • Examination of SNP-microarray limitations.

Main Results:

  • CNVs are emerging as a key genetic factor in stroke etiology.
  • SNP-microarray has limitations in detecting smaller or poorly covered CNVs.
  • Further research is needed to unequivocally associate CNVs with stroke.

Conclusions:

  • CNVs play a role in the genetic basis of stroke.
  • Advanced detection methods like CGH-array are needed to identify smaller or difficult-to-detect CNVs.
  • Confirming the CNV-stroke association requires broader methodological approaches.