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1. Introduction
2. Classes of genetic variation
3. Human genetic variation
4. Increase in CNV data in the database
5. Increase in database usage
6. Copy number variation in other species
7. The mosaic structure of chromosomes
8. CNV characteristics and frequency
9. Copy number variation in disease
10. General CNV characteristics in human
11. CNV calling is imperfect
12. Finding all CNVs requires multiple approaches
13. Interpreting impact of CNVs
14. A chromosome imbalance-phenotype map
15. Frequency of CNVs increased in TP53 carriers
16. Clinical significance of CNV, questions
17. Summary

Topics Covered

• Copy number variation (CNV): a basic introduction
• Theory
• Concepts
• Applications
• CNV studies in the general population
• CNV in disease studies

Links

Series:

• Copy Number Variation

Categories:

• Genetics & Epigenetics

Talk Citation

Publication History

• Published on August 30, 2009
• Archived on May 28, 2025

Financial Disclosures

• Prof. Steve Scherer, Consultant: Population Diagnostics Other: Lineagen - intellectual property licence