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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 20, 2026

A Novel Strategy Combining Array-CGH, Whole-exome Sequencing and In Utero Electroporation in Rodents to Identify Causative Genes for Brain Malformations

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Structural chromosomal variations in neurological diseases.

Bernadette Kalman¹, Emilia Vitale

¹VA Medical Center, Syracuse, NY, USA. kalmanb@upstate.edu

The Neurologist

|September 11, 2009

Summary

Gene copy number variations (CNVs) are increasingly recognized as important contributors to neurologic disorders. Ongoing research aims to uncover their role in complex diseases and guide personalized therapies.

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Mapping Alzheimer's Disease Variants to Their Target Genes Using Computational Analysis of Chromatin Configuration

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Published on: January 9, 2020

Area of Science:

Genetics
Neurology
Genomic Medicine

Background:

Advances in genetic analysis in the 1990s identified mutations in Mendelian neurologic disorders.
The Human Genome Project provided a reference genome and enabled studies on complex diseases using single nucleotide polymorphisms.
Structural chromosomal variations, including gene copy number variations (CNVs), were recognized as contributors to human variability and disease.

Purpose of the Study:

To describe the occurrence of CNVs in the human genome.
To discuss the importance of CNVs in health and neurologic disease.
To review known pathogenic CNVs in common neurologic disorders and highlight research in complex trait diseases.

Main Methods:

Review of existing literature on gene copy number variations (CNVs).
Focus on pathogenic CNVs relevant to practicing neurologists.
Identification of new research directions in complex trait diseases.

Main Results:

CNVs play a role in the pathogenesis of neurologic disorders.
Current data likely represents only a fraction of conditions linked to CNVs.
Ongoing genomic studies are expected to reveal CNVs as causes for poorly understood common diseases.

Conclusions:

The significance of chromosomal structural variations in neurologic disease is increasingly acknowledged.
Future research needs to define chromosomal breakpoints and evaluate gene dosage effects.
Molecular genetics holds promise for personalized therapeutic interventions for CNV-related conditions.