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In "[Genomics: A Very Short Introduction]" by John Archibald, the author discusses the CNV:

Whole-genome re-sequencing is fast becoming the norm in the field of human comparative genomics. It is sufficient for the accurate detection of single-nucleotide polymorphisms or SNPs (i.e. variations in a single nucleotide position in the genome in members of a population). To a lesser extent it can also identify short insertions and deletions in non-repetitive DNA, as well as reveal copy number variations (CNVs) between target and reference genomes. CNVs are increasingly recognized as being important in human biology and disease; in genomic data, they manifest themselves as differences in the depth of sequence coverage obtained for a specific gene or stretch of DNA. Genomic regions showing a large increase or decrease in the number of individual reads mapping to the reference genome are indicative of changes in copy number in the organism of interest (see Figure 8).

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I don't have enough knowledge about this topic, and I don't know how "position" could be measured by "bp" unit, which is mainly a unit of length in similar contexts!

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  • $\begingroup$ @user438383 So, does "chromosome position" refer to "the position of the chromosome itself" or "position of a specific thing within it"? $\endgroup$ Commented Aug 28, 2022 at 13:34
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    $\begingroup$ The latter - the position within a chromosome. $\endgroup$
    – user438383
    Commented Aug 28, 2022 at 14:08

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‘Position’ (or genomic coordinate) in genetics is just a 1-dimensional measurement, as the genome is basically a 1-dimensional object (in most contexts - the genome actually has a 3d structure but that’s usually ignored for simplicity in a majority of case).

‘Chromosom(al) position’ will therefore almost always refer to the position of something like a gene within a chromosome.

Perhaps this is confusing if you assume ‘position’ refers to at least a 2-dimensional coordinate like it does on a map or something.

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