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

18.0K
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%...
18.0K

You might also read

Related Articles

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

Sort by
Same author

Recombinant RGD-Apoptins Decrease Human Melanoma Cell Viability.

International journal of molecular sciences·2025
Same author

<i>SLC4A11</i> Revisited: Isoforms, Expression, Functions, and Unresolved Questions.

Biomolecules·2025
Same author

From Genes to Disease: Reassessing <i>LOXHD1</i> and <i>AGBL1</i>'s Contribution to Fuchs' Dystrophy.

International journal of molecular sciences·2025
Same author

Damage of the Bone Marrow Stromal Precursors in Patients with Acute Leukemia at the Onset of the Disease and During Treatment.

International journal of molecular sciences·2025
Same author

Non-human peptides revealed in blood reflect the composition of intestinal microbiota.

BMC biology·2024
Same author

Author Correction: Therapy-induced secretion of spliceosomal components mediates pro-survival crosstalk between ovarian cancer cells.

Nature communications·2024

Related Experiment Video

Updated: Oct 2, 2025

Array Comparative Genomic Hybridization Array CGH for Detection of Genomic Copy Number Variants
09:16

Array Comparative Genomic Hybridization Array CGH for Detection of Genomic Copy Number Variants

Published on: February 21, 2015

19.8K

Progress in Methods for Copy Number Variation Profiling.

Veronika Gordeeva1,2,3, Elena Sharova2, Georgij Arapidi2,3,4

  • 1Center for Precision Genome Editing and Genetic Technologies for Biomedicine, Federal Research and Clinical Center of Physical-Chemical Medicine of Federal Medical Biological Agency, 119435 Moscow, Russia.

International Journal of Molecular Sciences
|February 26, 2022
PubMed
Summary
This summary is machine-generated.

Copy number variations (CNVs) are key to evolution and disease. Advances in molecular diagnostics and computational methods have significantly improved the detection of these large genomic changes.

Keywords:
chromosome microarray analysiscopy number variationkaryotypinglong-read and short-read sequencing

More Related Videos

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

11.8K
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

3.2K

Related Experiment Videos

Last Updated: Oct 2, 2025

Array Comparative Genomic Hybridization Array CGH for Detection of Genomic Copy Number Variants
09:16

Array Comparative Genomic Hybridization Array CGH for Detection of Genomic Copy Number Variants

Published on: February 21, 2015

19.8K
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

11.8K
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

3.2K

Area of Science:

  • Genomics
  • Molecular Biology
  • Bioinformatics

Background:

  • Copy number variations (CNVs) are a major class of structural genomic alterations.
  • CNVs play critical roles in evolutionary adaptation, genomic disorders, and disease progression.
  • Detecting CNVs presents challenges due to their diverse sizes, unlike single-nucleotide variants.

Purpose of the Study:

  • To review major approaches for routine CNV detection.
  • To highlight advancements in molecular and computational methods for CNV analysis.
  • To discuss the specific features of various CNV detection techniques.

Main Methods:

  • Review of cytogenetic techniques for CNV detection.
  • Analysis of next-generation sequencing (NGS) technologies for CNV identification.
  • Examination of computational algorithms used in CNV analysis.

Main Results:

  • Significant progress in CNV detection over the past 20-30 years.
  • Molecular diagnostics provide a detailed view of genome structure.
  • Computational methods have greatly complemented experimental techniques.

Conclusions:

  • CNV detection has evolved considerably due to technological advancements.
  • A combination of molecular and computational approaches is crucial for accurate CNV analysis.
  • Understanding CNV detection methods is vital for research in evolution, disease, and diagnostics.