Table 1.
Individual | Population | CNV Type | IGHV Genes Included in CNVa | GRCh37 Outer-Start (Breakpoint)b | GRCh37 Outer-End (Breakpoint)b | Event Size (∼kbp) | Accessions/Clones |
---|---|---|---|---|---|---|---|
CH17 | nd | Insertion | V1-69D, V1-f, V3-h, V2-70D (gain) | 107174927 | 107174941 | 46.6 | AC245023, AC245094 |
CH17 | nd | Complex event | V4-30-2 (gain) V4-31 (loss) | 106804332 | 106810878 | 6.5c/48.8d | AC245166 |
CH17 | nd | Complex event | V5-a, V3-64D (gain) V3-9, V1-8 (loss) | 106531320 | 106569343 | 38c/37.7e | AC245085, AC247036 |
CH17 | nd | Insertion | V7-4-1 (gain) | 106483362 | 106484225 | 9.5 | AC244226, AC245085, AC247036 |
NA12156 | CEPH | Deletion | V4-39, V3-38 (loss) | 106866357 | 106899042 | 32.7 | AC244497 |
NA15510 and NA19240 | nd and Yoruba | Insertion | V1-c, V3-d, V3-43D, V4-b (gain) | 106877146 | 106877535 | 61.1 | AC241995, AC234225; AC233755, KC162926f |
NA18555 (haplotype A) | Han Chinese | Complex event | V3-30-5, V4-30-4, V3-30-3, V4-30-2 (gain) | 106804332 | 106804333 | 49.2 | KC162924, AC231260, AC244456, KC162925 |
NA18555 (haplotype B) | Han Chinese | Deletion | V4-31, V3-30 (loss) | 106786254 | 106811213 | 24.9c/73.9d | AC244464 |
NA18507 | Yoruban | Complex eventg | V4-30-4, V3-30-3 (gain) V3-30 (loss) | 106784242 | nd | 25.2 | AC244411 |
NA18502 | Yoruban | Complex eventg | V3-30-5 (gain) V3-33, V4-31 (loss) | nd | 106820685 | 24.7 | AC245243 |
NA18956 and NA12156 | Japanese and CEPH | Duplication | V3-23D (gain) | 106716650 | 106727861 | 10.8 | AC244473, AC206018; AC244492 |
NA19240 and NA12878 | Yoruban and CEPH | Insertion | V7-4-1 (gain) | 106483362 | 106484225 | 9.5 | AC241513; AC245090 |
nd, not defined;
Genes either lost or gained in the context of GRCh37 as part of CNV-containing haplotypes are noted.
Coordinates delineate regions in which event breakpoints are predicted to have occurred.
Event size with respect to GRCh37.
Event size with respect to NA18555 haplotype A (see Figure 4).
Event size with respect to CH17.
Clones from these two individuals were used to build a composite haplotype.
Partially characterized.