Table 2.
Unique CNVs observed identified across 3262 samples using the LipidSeq panel
| Gene | CNV state | Regions affected | Instances observed | Related publication |
|---|---|---|---|---|
| ABCA1 | 5’UTR – 3’UTR | Deletion (het) | 1 | [39] |
| Exons 47–48 | Deletion (het) | 1 | ||
| Exons 8–31 | Deletion (het) | 2 | [39] | |
| Exons 4–7 | Duplication | 1 | ||
| Exon 4 | Deletion (het) | 1 | [39] | |
| ABCG1 | Non-coding exon 1–3’UTR | Duplication | 2 | |
| ABCG8 | Exons 4–6 | Duplication | 3 | |
| AGPAT2 | Exons 2–4 | Deletion (het) | 1 | |
| 5’UTR – exon 1 | Deletion (het) | 1 | ||
| ANGPTL3 | Exon 3–3’UTR | Deletion (het) | 1 | |
| APOA5 | 5’UTR – 3’UTR | Deletion (het) | 1 | |
| APOA5 and APOA4 | 5’UTR – 3’UTR, 5’UTR – 3’UTR | Duplication | 1 | |
| APOB | 5’UTR – 3’UTR | Duplication | 1 | |
| APOC2 | Non-coding exon 1 | Deletion (hom) | 1 | |
| BLK | Exon 2–3’UTR | Duplication | 29 | |
| Exon 10 | Duplication | 1 | ||
| CAV2 | 5’UTR – exon 1 | Duplication | 1 | |
| CETP | 5’UTR – exon 2 | Deletion (het) | 1 | |
| CIDEC | Exon 4–3’UTR | Deletion (het) | 1 | |
| Alternative non-coding exon 1a | Deletion (het) | 3 | ||
| CREB3L3 | 5’UTR – exon 2 | Deletion (het) | 1 | |
| 5’UTR – 3’UTR | Duplication | 2 | ||
| Exons 3–4 | Deletion (het) | 1 | ||
| Exon 5 | Deletion (het) | 1 | ||
| GCK | 5’UTR – alternative exon 1 | Deletion (het) | 5 | [40] |
| 5’UTR – alternative exon 1 | Duplication | 1 | ||
| GPIHBP1 | 5’UTR – 3’UTR | Deletion (hom) | 3 | |
| Exons 3–4 | Deletion (het) | 3 | ||
| HNF1B | 5’UTR – 3’UTR | Deletion (het) | 3 | |
| HNF4A | 5’UTR – exon 1 | Deletion (het) | 1 | |
| 5’UTR – 3’UTR | Deletion (het) | 1 | [41] | |
| LDLR | 5’UTR – exon 1 | Deletion (het) | 1 | [32] |
| 5’UTR – intron 1 | Deletion (het) | 33 | [32] | |
| 5’UTR – exon 2 | Deletion (het) | 3 | [32] | |
| 5’UTR – exon 6 | Deletion (het) | 1 | [32] | |
| Exons 2–3 | Deletion (het) | 1 | [32] | |
| Exons 2–6 | Duplication | 1 | [32] | |
| Exons 2–6 | Deletion (het) | 10 | [32] | |
| Exons 3–6 | Deletion (het) | 4 | [32] | |
| Exons 4–6 | Deletion (het) | 1 | ||
| Exons 5–6 | Deletion (het) | 1 | [32] | |
| Exon 7 | Duplication | 1 | [32] | |
| Exons 9–10 | Deletion (het) | 1 | ||
| Exons 11–12 * | Duplication | 1 | [32] | |
| Exons 11–12 * | Duplication | 1 | [32] | |
| Exons 11–12 | Deletion (het) | 1 | [32] | |
| Exons 13–14 | Deletion (het) | 1 | [32] | |
| Exons 13–15 | Deletion (het) | 1 | [32] | |
| Exon 16–3’UTR | Deletion (het) | 1 | [32] | |
| Exon 17–3’UTR | Deletion (het) | 5 | [32] | |
| Exons 18–3’UTR | Deletion (het) | 1 | [32] | |
| LDLRAP1 | 5’UTR – exon 1 | Duplication | 1 | |
| LIPA | Exon 9–3’UTR | Deletion (het) | 1 | |
| Exon 4 | Deletion (het) | 2 | ||
| LIPC | 5’UTR – exon 1 | Deletion (het) | 6 | |
| LMF1 | Exon 6 | Deletion (het) | 2 | |
| LPIN1 | Exons 2–4 | Deletion (het) | 1 | |
| Alternative exon 6 | Deletion (het) | 1 | ||
| Exon 18 | Deletion (het) | 3 | ||
| Exons 18–19 | Deletion (het) | 1 | ||
| LPL | 5’UTR – exon 1 | Deletion (het) | 1 | [42] |
| 5’UTR – exon 2 | Deletion (het) | 3 | [42] | |
| MFN2 | Exons 4–6 | Duplication | 1 | |
| MTTP | 5’UTR – 3’UTR | Deletion (het) | 1 | |
| Exon 10 | Deletion (het) | 1 | ||
| Exons 10–15 | Deletion (hom ×2, het) | 3 | ||
| NPC1L1 | Exons 6–10 | Deletion (het) | 1 | |
| PCSK9 | 5’UTR – 3’UTR | Duplication | 5 | [43] |
| PLIN1 | Exon 3–3’UTR | Duplication | 1 | |
| Exon 8 | Deletion (het) | 2 | ||
| Exon 2 | Deletion (het) | 1 | ||
| PNPLA2 | 5’UTR – 3’UTR | Duplication | 1 | |
| POLD1 | 5’UTR | Duplication | 2 | |
| PPARA | Alternative non-coding exon 1–3’UTR | Duplication | 1 | |
| WRN | Exon 3 | Deletion (het) | 1 | |
| Exons 9–11 | Deletion (het) | 1 | ||
| Exon 10 | Duplication | 1 |
“*” indicates that although these CNVs cover the same areas, they were found to have different breakpoints, making each one a unique CNV instance. Abbreviations: HDL high-density lipoprotein, het heterozygous, hom homozygous, UTR untranslated region