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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%...
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...
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,...
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.
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: Jun 24, 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

Benign copy number changes in clinical cytogenetic diagnostics by array CGH.

H Whitby1, A Tsalenko, E Aston

  • 1University of Utah CGH Microarray Laboratory, Department of Pediatrics, Salt Lake City, UT, USA.

Cytogenetic and Genome Research
|March 17, 2009
PubMed
Summary

This study reports common benign copy number variants (bCNVs) in 1,275 patients with abnormal phenotypes. Findings aid clinical labs in evaluating copy number variants of unknown significance.

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Area of Science:

  • Genetics
  • Genomic Medicine
  • Bioinformatics

Background:

  • A database of benign copy number variants (bCNVs) has been maintained since 2005.
  • The database primarily includes pediatric patients with abnormal phenotypes, such as developmental delay.

Purpose of the Study:

  • To report the most common 35 bCNVs and their frequencies.
  • To compare BAC array platform data with a newer oligonucleotide array platform.

Main Methods:

  • Analysis of a database of 1,275 patients with abnormal phenotypes.
  • Comparison of bCNV detection between BAC arrays and Agilent oligonucleotide arrays.
  • Evaluation of CNV concordance and breakpoint determination.

Main Results:

  • The 35 most common bCNVs and their frequencies are reported.
  • A 76% concordance was observed between BAC and oligonucleotide array platforms for these bCNVs.
  • The oligonucleotide array provided higher resolution, enabling precise breakpoint determination and detection of smaller CNVs.

Conclusions:

  • The reported bCNVs and their frequencies are consistent with existing databases.
  • These data will support clinical laboratories in assessing copy number variants (CNVs) of unknown clinical significance.
  • Advancements in array technology improve CNV detection and characterization.