deletion of several genes
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Julio Rodríguez
Mar 11, 2026, 11:23:33 AMMar 11
to hgvs-nom...@googlegroups.com
A deletion affecting several genes, without sequencing the breakpoint, (ej 302.2kb chr1:158.547.117-158.849.272 1q23.1)
is designated with nomenclature of the following type:
NC_000023.11:g.(xxxx_xxxxx)del ?
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Johan den Dunnen
Mar 16, 2026, 3:48:11 AMMar 16
to HGVS Nomenclature
Dear Julio,
as explained on the HGVS nomenclature "Uncertain" page (https://hgvs-nomenclature.org/stable/recommendations/uncertain/), when the breakpoint has not been sequenced, the deletion should be described using 4 positions. The basic format to be used is: (last-normal-position_first-altered-position)_(last-altered-position_first-normal-position). In your case I then get to NC_000001.11:g.(?_158547117)_(158849272_?)del. Preferably, you should try to specify the "?" by specific positions.
Best regards,
Johan den Dunnen
HUGO HGVS Variant Nomenclature Committee (HVNC)
Johan den Dunnen
HUGO HGVS Variant Nomenclature Committee (HVNC)
Op woensdag 11 maart 2026 om 16:23:33 UTC+1 schreef Julio Rodríguez:
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