HGVSnomenclature / hgvs-nomenclature

HGVS Nomenclature website
https://hgvs-nomenclature.org/
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What is the correct description for a supernumerary chromosome? #153

Closed ifokkema closed 8 months ago

ifokkema commented 9 months ago

The HGVS nomenclature explains two ways to describe supernumerary chromosomes.

With square brackets:

the description of the supernumerary molecule is given using "[ ]sup".

(source)

or, without:

NC_000023.11:g.pter_qtersup

(source)

I have just received data where the description NC_000023.10:g.[pter_qter]sup is given, and I can't tell whether that's correct or not.

jfjlaros commented 8 months ago

My two cents.

I would like the operators to have as few meanings as possible. Since the [] are already used to group variants into alleles and to denote a counter in repeats, I would advise against mandating yet another use (as a reading aid).

I am aware of the fact that this is already being used when inserting slices of foreign reference sequences, there I would also like to see it as an optional reading aid.

jtdendunnen commented 8 months ago

Ivo, as far as I know NC_000023.10:g.[pter_qter]sup is not correct. the current recommendation is to use NC_000023.10:g.pter_qtersup.