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Cytogenetically visible copy number variations (CG-CNVs) in banding and molecular cytogenetics of human; about heteromorphisms and euchromatic variants

22 Jan 2016

Abstract excerpt

BACKGROUND: Copy number variations (CNVs) having no (obvious) clinical effects were rediscovered as major part of human genome in 2004. However, for every cytogeneticist microscopically visible harmless CNVs (CG-CNVs) are well known since decades. Harmless CG-CNVs can be present as heterochromatic or even as euchromatic variants in clinically healthy persons. RESULTS: Here I provide a review on what is known...

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PMID: 26807150
DOI: 10.1186/s13039-016-0216-1

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