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).

enter image description here

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!

  • $\begingroup$ @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
  • 2
    $\begingroup$ The latter - the position within a chromosome. $\endgroup$
    – user438383
    Commented Aug 28, 2022 at 14:08

1 Answer 1


‘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.


You must log in to answer this question.

Not the answer you're looking for? Browse other questions tagged .