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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,...
DNA Microarrays02:34

DNA Microarrays

Microarrays are high-throughput and relatively inexpensive assays that can be automated to analyze large quantities of data at a time. They are used in genome-wide studies to compare gene or protein expression under two varied conditions, such as healthy and diseased states. Microarrays consist of glass or silica slides on which probe molecules are covalently attached through surface functionalization. Most commonly, the slides are prepared through the chemisorption of silanes to silica...
Evolutionary Relationships through Genome Comparisons02:54

Evolutionary Relationships through Genome Comparisons

Genome comparison is one of the excellent ways to interpret the evolutionary relationships between organisms. The basic principle of genome comparison is that if two species share a common feature, it is likely encoded by the DNA sequence conserved between both species. The advent of genome sequencing technologies in the late 20th century enabled scientists to understand the concept of conservation of domains between species and helped them to deduce evolutionary relationships across diverse...
Multi-species Conserved Sequences02:51

Multi-species Conserved Sequences

Next-generation sequencing technologies have created large genomic databases of a variety of animals and plants. Ever since the human genome project was completed, scientists studied the genome of primates, mammals, and other phylogenetically distant living beings. Such large-scale  studies have provided new insights into the evolutionary relationship between organisms.
Although the genome of each species varies greatly from each other, a few sequences are highly conserved. Such conserved DNA...

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Related Experiment Video

Updated: Jun 22, 2026

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

Copy number variants (CNVs) in primate species using array-based comparative genomic hybridization.

Omer Gökçümen1, Charles Lee

  • 1Cytogenetics Research Laboratory, Department of Pathology, Brigham and Women's Hospital, Harvard Medical School, 221 Longwood Avenue, EBRC 404, Boston, MA 02115, USA. ogokcumen@partners.org

Methods (San Diego, Calif.)
|June 24, 2009
PubMed
Summary

Copy number variants (CNVs) represent significant genomic differences in primates, impacting evolution and disease. This review examines array technologies for detecting CNVs and their primate research applications.

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Last Updated: Jun 22, 2026

Array Comparative Genomic Hybridization (Array CGH) for Detection of Genomic Copy Number Variants
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Published on: February 21, 2015

Detection of Copy Number Alterations Using Single Cell Sequencing
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Technical Demonstration of Whole Genome Array Comparative Genomic Hybridization
16:37

Technical Demonstration of Whole Genome Array Comparative Genomic Hybridization

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Area of Science:

  • Genomics
  • Evolutionary Biology
  • Primate Genetics

Background:

  • Genomic variation is substantial in primates, with single nucleotide polymorphisms (SNPs) and structural variations contributing to differences.
  • Copy number variants (CNVs), a major component of structural variation, involve DNA segments with varying copy numbers between individuals.
  • CNVs have been linked to human complex diseases, adaptation, and neurological conditions, and are valuable in population genetics.

Purpose of the Study:

  • To review the strengths and weaknesses of comparative genomic hybridization (CGH) array technologies for CNV detection.
  • To explore the applications of these array technologies in primate genetic research.
  • To highlight the largely unknown role of CNVs in primate evolution and genetic diversity.

Main Methods:

  • Genome-wide identification of CNVs using array-based technologies.
  • Comparative genomic hybridization (CGH) array techniques for detecting CNV variation.
  • Analysis of CNV data in primate genomes.

Main Results:

  • CNVs comprise up to 0.7% of genomic differences in humans, significantly contributing to genetic variation.
  • Array technologies have enabled genome-wide CNV identification, revealing thousands of variable loci.
  • CNVs offer insights into human genetic variation and population genetics.

Conclusions:

  • CNVs are a critical source of genetic diversity in primates, with implications for evolution and disease.
  • Array-based CGH technologies are powerful tools for CNV detection, though they have limitations.
  • Further research is needed to fully understand the role of CNVs in primate genetic diversity and evolution.