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Related Concept Videos

Comparing Copy Number Variations and SNPs02:26

Comparing Copy Number Variations and SNPs

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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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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...
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Related Experiment Video

Updated: Apr 16, 2026

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

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Array comparative genomic hybridization (array CGH) for detection of genomic copy number variants.

Joo Wook Ahn1, Michael Coldwell2, Susan Bint2

  • 1Cytogenetics Department, Guy's & St Thomas' NHS Foundation Trust; joowook.ahn@nhs.net.

Journal of Visualized Experiments : Jove
|March 6, 2015
PubMed
Summary

Array comparative genomic hybridization (CGH) is a powerful tool for detecting genomic copy number variants, replacing traditional karyotyping. This technology offers high resolution for clinical genetic diagnostics.

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Area of Science:

  • Genomics
  • Molecular Biology
  • Clinical Diagnostics

Background:

  • Array CGH has become the standard for detecting genomic copy number variants, superseding G-banded karyotype analysis.
  • This technology is crucial in clinical diagnostic laboratories for identifying genetic abnormalities.

Purpose of the Study:

  • To describe the technology of array CGH.
  • To explain its application in a clinical diagnostic service laboratory.

Main Methods:

  • Patient DNA and reference DNA are labeled with different fluorochromes (cyanine 5 or cyanine 3).
  • Labeled DNAs are hybridized to an array with approximately 60,000 oligonucleotide probes.
  • Post-hybridization, arrays are washed, scanned, and analyzed for fluorescence ratios to detect copy number variants.

Main Results:

  • The described array CGH method allows for the detection of genomic copy number variants.
  • Software facilitates quality assessment, fluorescence ratio calculation, and variant identification.

Conclusions:

  • Array CGH is an effective technology for detecting genomic copy number variants in a clinical setting.
  • Its application in diagnostic laboratories aids in identifying genetic disorders.