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%...
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,...
Gene Duplication and Divergence02:37

Gene Duplication and Divergence

The seminal work of Ohno in 1970 popularized the idea of gene duplication and divergence. DNA sequence comparison studies reveal that a large portion of the genes in bacteria, archaebacteria, and eukaryotes was  generated by gene duplication and divergence, indicating its critical role in evolution.
The duplicated copies of the gene are called Paralogs. Paralogs with similar sequences and functions form a gene family. Across several species, a large number of gene families are characterized.
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.
Principles of Pharmacogenetics: Types of Genetic Variants01:27

Principles of Pharmacogenetics: Types of Genetic Variants

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...
Gene Families01:57

Gene Families

Gene families consist of groups of genes proposed to have originated from a common ancestor. Typically these arise through events in which a gene or genes are mistakenly duplicated during cell division. Unlike their parent genes (which are subject to selection pressure to maintain function), these gene copies do not need to preserve their sequences and may evolve at a relatively faster rate.
Occasionally these regions can be adapted to take on new roles within the organism, becoming novel genes...

You might also read

Related Articles

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

Sort by
Same author

IQ-TREE 3: phylogenomic inference software using complex evolutionary models.

Molecular biology and evolution·2026
Same author

Gene tree discordance.

Current biology : CB·2026
Same author

Leveraging long-read assemblies and machine learning to enhance short-read transposable element detection and genotyping.

Genetics·2026
Same author

Deep learning reveals genomic regions introgressed between two recurrently hybridizing lynx species.

Molecular biology and evolution·2026
Same author

Soft Selective Sweeps Predominate in the Yellow Fever Mosquito Aedes aegypti.

Molecular biology and evolution·2026
Same author

Ancestry-specific performance of variant effect predictors in clinical variant classification.

bioRxiv : the preprint server for biology·2026

Related Experiment Video

Updated: Jun 11, 2026

An Array-based Comparative Genomic Hybridization Platform for Efficient Detection of Copy Number Variations in Fast Neutron-induced Medicago truncatula Mutants
09:32

An Array-based Comparative Genomic Hybridization Platform for Efficient Detection of Copy Number Variations in Fast Neutron-induced Medicago truncatula Mutants

Published on: November 8, 2017

Gene copy-number polymorphism in nature.

Daniel R Schrider1, Matthew W Hahn

  • 1Department of Biology and School of Informatics and Computing, Indiana University, Bloomington, IN 47405, USA.

Proceedings. Biological Sciences
|July 2, 2010
PubMed
Summary
This summary is machine-generated.

Genetic differences in gene copy-number, known as copy-number variants (CNVs), create unique gene sets in individuals and drive adaptive traits. Studying CNVs is crucial for understanding natural selection and evolution.

More Related Videos

Measuring Single-Cell Mitochondrial DNA Copy Number and Heteroplasmy Using Digital Droplet Polymerase Chain Reaction
09:15

Measuring Single-Cell Mitochondrial DNA Copy Number and Heteroplasmy Using Digital Droplet Polymerase Chain Reaction

Published on: July 12, 2022

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: Jun 11, 2026

An Array-based Comparative Genomic Hybridization Platform for Efficient Detection of Copy Number Variations in Fast Neutron-induced Medicago truncatula Mutants
09:32

An Array-based Comparative Genomic Hybridization Platform for Efficient Detection of Copy Number Variations in Fast Neutron-induced Medicago truncatula Mutants

Published on: November 8, 2017

Measuring Single-Cell Mitochondrial DNA Copy Number and Heteroplasmy Using Digital Droplet Polymerase Chain Reaction
09:15

Measuring Single-Cell Mitochondrial DNA Copy Number and Heteroplasmy Using Digital Droplet Polymerase Chain Reaction

Published on: July 12, 2022

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:

  • Genetics
  • Evolutionary Biology
  • Genomics

Background:

  • Gene copy-number variation is a fundamental source of genetic diversity within multicellular species.
  • These variations lead to distinct sets of protein-coding genes among individuals.
  • Copy-number variants (CNVs) have been implicated in adaptive phenotypic differences.

Purpose of the Study:

  • To review the evidence for copy-number variants (CNVs).
  • To focus on methods for detecting CNVs and their generation mechanisms.
  • To discuss the relationship between within-species CNV and between-species divergence.

Main Methods:

  • Review of existing literature on copy-number variants.
  • Discussion of detection methodologies, including challenges.
  • Integration of next-generation sequencing technologies for CNV analysis.

Main Results:

  • CNVs contribute to unique gene complements and phenotypic variation.
  • Next-generation sequencing facilitates CNV detection across diverse systems.
  • CNV patterns within and between species align with expectations from nucleotide variation.

Conclusions:

  • Natural selection acts on copy-number variants, with most deletions being removed.
  • Specific gene CNVs are linked to adaptive phenotypic differences.
  • Understanding CNVs is essential for a complete picture of adaptive natural selection.