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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%...
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.
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,...
Karyotyping01:17

Karyotyping

Describing the number and physical features of chromosomes can reveal abnormalities that underlie genetic diseases. This description is facilitated by special staining techniques that produce a particular banding pattern on each chromosome. State-of-the-art techniques make this approach even more powerful, enabling the detection of individual genes that cause disease.A Simple Chromosome Staining Technique Provides Valuable Scientific InsightSome genetic diseases can be detected by looking at...
Karyotyping01:17

Karyotyping

Describing the number and physical features of chromosomes can reveal abnormalities that underlie genetic diseases. This description is facilitated by special staining techniques that produce a particular banding pattern on each chromosome. State-of-the-art techniques make this approach even more powerful, enabling the detection of individual genes that cause disease.A Simple Chromosome Staining Technique Provides Valuable Scientific InsightSome genetic diseases can be detected by looking at...
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...

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Related Experiment Video

Updated: Jul 8, 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

Segmental copy-number variation observed in Japanese by array-CGH.

N Takahashi1, N Tsuyama, K Sasaki

  • 1Department of Genetics, Radiation Effects Research Foundation, 5-2 Hijiyama Park, Minami-ku, Hiroshima, Japan. takahash@rerf.or.jp

Annals of Human Genetics
|January 22, 2008
PubMed
Summary

This study identified rare and polymorphic copy-number variations (CNVs) in Japanese individuals. Rare CNVs, often novel and not overlapping segmental duplications, suggest population-specific genetic differences.

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Detection of Copy Number Alterations Using Single Cell Sequencing
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Area of Science:

  • Human Genetics
  • Genomics
  • Molecular Biology

Background:

  • Segmental copy-number variations (CNVs) are a source of human genetic diversity.
  • Understanding the landscape of CNVs is crucial for human population genetics.

Purpose of the Study:

  • To characterize rare and polymorphic CNVs in a Japanese population.
  • To investigate the genomic features and potential origins of different CNV types.

Main Methods:

  • Comparative genomic hybridization (array-CGH) using a microarray of 2,238 Bac-clones.
  • Quantitative polymerase chain reactions (qPCR) for rare CNV validation.

Main Results:

  • Identified 251 CNVs across 30 genomic regions in 80 individuals.
  • Characterized 14 rare CNVs and 16 polymorphic CNV regions.
  • Rare CNVs predominantly occurred outside segmental duplication regions, while polymorphic CNVs were often within them.
  • Over 90% of polymorphic CNVs were previously identified; over 50% of rare CNVs were novel.

Conclusions:

  • Rare and polymorphic CNVs likely arise from distinct genetic mechanisms.
  • Novel rare CNVs suggest significant inter-population variation in CNV profiles, similar to SNPs and indels.