CNV detected by NGS #257

[Julio Rodríguez]

A deletion of several genes (4.3kb, 16p13.3) was detected by NGS; the exact breakpoints were sequenced. The nomenclature would be something like:

NC_000016.10:g.172824_177143del ?

Thank you

[Johan den Dunnen]

Dear Julio,

yes, following HGVS nomenclature, when the deletion break point has been sequenced, NC_000016.10:g.172824_177143del is a correct description of the deletion detected at the genomic level.

Best regards,

Johan den Dunnen
HUGO HGVS Variant Nomenclature Committee (HVNC)

Op maandag 18 mei 2026 om 16:28:57 UTC+2 schreef Julio Rodríguez:

[Julio Rodríguez]

thanks!