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2011
Abstract THE MICROSCOPE has long been the classical instrument of the cytogeneticist, and large-scale variation in the human genome has been known since the early days of the discipline. As identified by the examination of banded chromosomes, variation can be normal or abnormal.
R. J. McKinlay Gardner, Grant R. Sutherland, Lisa G. Shaffer +2 more
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Copy Number Variants

Abstract Knowing what is “normal” and what is not is a particular challenge in this era of molecular karyotyping. This chapter discusses the concept of the copy number variant (CNV) and how the harmlessness, or not, of a CNV may be assessed, including the nuanced concept of penetrance as it is applied to neurodevelopmental phenotypes.
David J. Amor, R. J. McKinlay Gardner
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Counting copy number and calories

Nature Genetics, 2015
Copy number variation (CNV) at several genomic loci has been associated with different human traits and diseases, but in many cases the findings could not be replicated. A new study provides insights into the degree of variation present at the amylase locus and calls into question a previous association between amylase copy number and body mass index.
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Regulation of ribosomal RNA gene copy number, transcription and nucleolus organization in eukaryotes

Nature Reviews Molecular Cell Biology, 2023
Yutaro Hori, Christoph Engel
exaly

Signatures of copy number alterations in human cancer

Nature, 2022
Christopher D Steele, Ammal Abbasi, S M Ashiqul Islam +2 more
exaly

Influences of rare copy-number variation on human complex traits

Cell, 2022
Margaux L A Hujoel, Alison R Barton, Po-Ru Loh +2 more
exaly

Copy Number Variation