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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.
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Related Experiment Video

Updated: Jun 22, 2026

Following the Dynamics of Structural Variants in Experimentally Evolved Populations

Following the Dynamics of Structural Variants in Experimentally Evolved Populations

Published on: February 3, 2023

Progress in the detection of human genome structural variations.

XueMei WU¹, HuaSheng XIAO

¹Center of Functional Genomics, Key Laboratory of System Biology, Shanghai Institutes for Biological Sciences, Chinese Academy of Sciences, Shanghai 200031, China.

Science in China. Series C, Life Sciences

|June 27, 2009

Summary

High-throughput genomic technologies detect submicroscopic variants like copy number variations (CNVs) and rearrangements. This review covers key methods for discovering these structural variants and improving genomic variation databases.

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Area of Science:

Genomics
Molecular Biology
Bioinformatics

Background:

Advancements in high-throughput and high-resolution genomic technologies enable the detection of submicroscopic variants.
These variants, ranging from 1 kb to 3 Mb, include copy number variations (CNVs), inversions, insertions, deletions, and complex DNA rearrangements.

Purpose of the Study:

To review commonly used technologies for discovering genomic structural variants.
To discuss the potential influences of these variants.
To highlight limitations and challenges of current assays and suggest improvements for genomic variation databases.

Main Methods:

Array-based assays: array-based comparative genomic hybridization (aCGH), representational oligonucleotide microarray analysis (ROMA).
PCR-based assays: multiplex amplifiable probe hybridization (MAPH), multiplex ligation-dependent probe amplification (MLPA).
Sequencing-based assays: paired-end mapping (PEM), next-generation DNA sequencing.

Main Results:

The paper reviews multiple technologies for detecting various genomic structural variants.
It highlights the capabilities and applications of array, PCR, and sequencing-based methods.
Limitations and challenges associated with current detection methods are discussed.

Conclusions:

Accurate detection of submicroscopic genomic variants is crucial for understanding human health.
Continued development and refinement of detection technologies are necessary.
Improving the reliability of genomic variation databases is essential for future research.