Table 1 Summary of structural variants characterized by nanopore long-read genome sequencing.
Type | Gene (Transcript) | Affected exons | HGVS genomic nomenclature | Size (bp) | Reported ancestry | Number of individuals |
|---|---|---|---|---|---|---|
Deletion | BRCA1 (NM_007294.4) | 1–2 | NC_000017.11:g.43118925_43156395del | 37,471 | South East Asia | 1 |
NC_000017.11:g.43122618_43158674del | 36,057 | Britain | 1 | |||
NC_000017.11:g.43121293_43127941del | 6649 | Britain | 1 | |||
1–6 | NC_000017.11:g.43101034_(43203943_43203947)del | 102,910–102,914 | North East Asia | 1 | ||
1–23 | NC_000017.11:g.43023669_43131721del | 108,053 | Europe | 1 | ||
19 | NC_000017.11:g.43054985_43060741del | 5757 | Europe | 1 | ||
21 | NC_000017.11:g.43048723_43049232del | 510 | Eastern Europe | 1 | ||
BRCA2 (NM_000059.4) | 9–24 | NC_000013.11:g.32330880_32382537del | 51,658 | Britain | 1 | |
14–16 | NC_000013.11:g.32349809_32360302del | 10,494 | Britain | 1 | ||
19–20 | NC_000013.11:g.32366702_32374882del | 8181 | North East Asia | 1 | ||
CHEK2 (NM_007194.4) | 9–10 | NC_000022.11:g.28696573_28701967del | 5395 | Western Europe | 3 | |
NC_000022.11:g.28696638_28702825del | 6188 | Britain | 2 | |||
PALB2 (NM_024675.4) | 11–12 | NC_000016.10:g.23606702_23615822del | 9121 | North East Asia | 1 | |
Duplication | BRCA1 (NM_007294.4) | 12 | NC_000017.11:g.43078282_43084407dup | 6126 | Britain and Unknown | 3 |
