HGVS ROH/LOH description
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Dmitry Maslennikov
Apr 20, 2026, 10:20:27 AM (11 days ago) Apr 20
to HGVS Nomenclature
Dear HGVS Experts,
I would like to request clarification on how to correctly report regions of loss of heterozygosity without changes in copy number (LOH-CN) according to the HGVS nomenclature. I am aware that this notation exists for SNP arrays. However, since extended ROH regions can now be identified by calling them on WES and WGS data, it is crucial to report ROH correctly.
Sincerely,
Dmitry Maslennikov
I would like to request clarification on how to correctly report regions of loss of heterozygosity without changes in copy number (LOH-CN) according to the HGVS nomenclature. I am aware that this notation exists for SNP arrays. However, since extended ROH regions can now be identified by calling them on WES and WGS data, it is crucial to report ROH correctly.
Sincerely,
Dmitry Maslennikov
Johan den Dunnen
2:53 AM (20 hours ago) 2:53 AM
to HGVS Nomenclature
Dear Dmitry,
using HGVS nomenclature, LOH with a copy number change is described as a deletion. As far as I know there is currently no formal recommendation for the description of regions of loss of heterozygosity without changes in copy number. I will share your question with the HUGO HGVS Variant Nomenclature Committee (HUGO HVNC) and suggest adding such a recommendation.
Best regards,
Johan den Dunnen
HUGO HGVS Variant Nomenclature Committee (HVNC)
Johan den Dunnen
HUGO HGVS Variant Nomenclature Committee (HVNC)
Op maandag 20 april 2026 om 16:20:27 UTC+2 schreef Dmitry Maslennikov:
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