Jove
Visualize
Contact Us
JoVE
x logofacebook logolinkedin logoyoutube logo
ABOUT JoVE
OverviewLeadershipBlogJoVE Help Center
AUTHORS
Publishing ProcessEditorial BoardScope & PoliciesPeer ReviewFAQSubmit
LIBRARIANS
TestimonialsSubscriptionsAccessResourcesLibrary Advisory BoardFAQ
RESEARCH
JoVE JournalMethods CollectionsJoVE Encyclopedia of ExperimentsArchive
EDUCATION
JoVE CoreJoVE BusinessJoVE Science EducationJoVE Lab ManualFaculty Resource CenterFaculty Site
Terms & Conditions of Use
Privacy Policy
Policies

Related Concept Videos

Comparing Copy Number Variations and SNPs02:26

Comparing Copy Number Variations and SNPs

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%...
Genetic Variation01:25

Genetic Variation

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, which...
Single Nucleotide Polymorphisms-SNPs01:05

Single Nucleotide Polymorphisms-SNPs

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,...
Genome Copying Errors02:46

Genome Copying Errors

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.
What is Population Genetics?01:25

What is Population Genetics?

A population is composed of members of the same species that simultaneously live and interact in the same area. When individuals in a population breed, they pass down their genes to their offspring. Many of these genes are polymorphic, meaning that they occur in multiple variants. Such variations of a gene are referred to as alleles. The collective set of all the alleles within a population is known as the gene pool.While some alleles of a given gene might be observed commonly, other variants...
Hardy-Weinberg Principle01:49

Hardy-Weinberg Principle

Diploid organisms have two alleles of each gene, one from each parent, in their somatic cells. Therefore, each individual contributes two alleles to the gene pool of the population. The gene pool of a population is the sum of every allele of all genes within that population and has some degree of variation. Genetic variation is typically expressed as a relative frequency, which is the percentage of the total population that has a given allele, genotype or phenotype.In the early 20th century,...

You might also read

Related Articles

Articles linked to this work by shared authors, journal, and citation graph.

Sort by
Same author

Three immunoregulatory signatures define non-productive HIV infection in stem cell memory CD4<sup>+</sup> T cells.

Nature communications·2026
Same author

Three immunoregulatory signatures define non-productive HIV infection in CD4<sup>+</sup> T memory stem cells.

bioRxiv : the preprint server for biology·2026
Same author

Flexible and rapid validation of structural variation using adaptive sampling.

European journal of human genetics : EJHG·2026
Same author

Nallo: a Nextflow pipeline for comprehensive human long-read genome analysis.

Bioinformatics (Oxford, England)·2026
Same author

Impact of common variants on brain gene expression from RNA to protein to schizophrenia risk.

Nature communications·2025
Same author

Mainstreaming of clinical genetic testing: A conceptual framework.

Genetics in medicine : official journal of the American College of Medical Genetics·2025

Related Experiment Video

Updated: Jul 11, 2026

Pre-Implantation Genetic Testing for Aneuploidy on a Semiconductor Based Next-Generation Sequencing Platform
09:30

Pre-Implantation Genetic Testing for Aneuploidy on a Semiconductor Based Next-Generation Sequencing Platform

Published on: August 17, 2022

Copy-number variation in control population cohorts.

Dalila Pinto1, Christian Marshall, Lars Feuk

  • 1The Centre for Applied Genomics, The Hospital for Sick Children, Toronto, Ontario, Canada.

Human Molecular Genetics
|October 4, 2007
PubMed
Summary

Copy-number variation (CNV) is common in the human genome and impacts genetic diversity and disease susceptibility. Discovering new CNVs from existing data is crucial for understanding their role in human health and variation.

More Related Videos

Determining the Likelihood of Variant Pathogenicity Using Amino Acid-level Signal-to-Noise Analysis of Genetic Variation
07:15

Determining the Likelihood of Variant Pathogenicity Using Amino Acid-level Signal-to-Noise Analysis of Genetic Variation

Published on: January 16, 2019

Detection of Copy Number Alterations Using Single Cell Sequencing
09:45

Detection of Copy Number Alterations Using Single Cell Sequencing

Published on: February 17, 2017

Related Experiment Videos

Last Updated: Jul 11, 2026

Pre-Implantation Genetic Testing for Aneuploidy on a Semiconductor Based Next-Generation Sequencing Platform
09:30

Pre-Implantation Genetic Testing for Aneuploidy on a Semiconductor Based Next-Generation Sequencing Platform

Published on: August 17, 2022

Determining the Likelihood of Variant Pathogenicity Using Amino Acid-level Signal-to-Noise Analysis of Genetic Variation
07:15

Determining the Likelihood of Variant Pathogenicity Using Amino Acid-level Signal-to-Noise Analysis of Genetic Variation

Published on: January 16, 2019

Detection of Copy Number Alterations Using Single Cell Sequencing
09:45

Detection of Copy Number Alterations Using Single Cell Sequencing

Published on: February 17, 2017

Area of Science:

  • Genomics
  • Human Genetics
  • Bioinformatics

Background:

  • Copy-number variation (CNV) represents the most common structural variation in the human genome.
  • CNVs significantly contribute to genetic heterogeneity and influence human phenotype, including rare genomic disorders and Mendelian diseases.
  • Genome-wide association studies are increasingly identifying CNVs associated with phenotypic diversity and disease susceptibility.

Purpose of the Study:

  • To demonstrate a method for discovering novel CNVs from existing large-scale genetic epidemiological data.
  • To highlight the necessity of expanding CNV surveys across diverse population cohorts.
  • To emphasize the application of CNV data in studies of human variation and disease.

Main Methods:

  • Leveraging existing genotype data from large-scale genetic epidemiological studies for CNV discovery.
  • Discussing the challenges posed by high screening costs and technological variability in CNV analysis.
  • Proposing the expansion of population-based CNV surveys.

Main Results:

  • An example method for discovering new CNVs from existing genotype data is provided.
  • The study underscores the current scarcity of population frequency and distribution data for CNVs, especially rare ones.
  • The findings emphasize the need for comprehensive CNV data resources.

Conclusions:

  • Discovering and cataloging CNVs is essential for understanding their contribution to human genetic variation and disease.
  • Expanding population-based CNV studies is critical for building robust reference databases.
  • Integrating CNV data into genetic studies will enhance our understanding of human health and disease.