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. 2019 Sep 13;60(11):1953–1958. doi: 10.1194/jlr.P119000335

TABLE 2.

Genomic coordinates and breakpoints of LPL CNVs

CNV Zygosity State Breakpoint
Genomic Coordinates Length (bp) HGVS Notation
5′UTR, exon 1 Heterozygous Chr8: 19,795,544–19,801,460 5,917 g.19795544-19801460del
c.1_88del
p.Met1?
5′UTR, exon 2 Heterozygous Chr8: 19,795,150–19,806,747 11,598 g.19795150-19806747del
c.1_249del
p.Met1?

The sequences are in the forward-strand orientation. Chr, chromosome; HGVS, Human Genome Variation Society.