Table 1. A census of insertion and deletion in CHM1.
The statistics of insertion and deletion events in CHM1 compared to GRCh37 are listed by sequence category. Low complexity sequence is divided between STR and VNTR (Supplementary Information). AluY, L1HS, SVA, and HERV are active mobile elements. Alu indel events in conjunction with STR sequences or mosaic Alu are considered separate from solitary AluY MEI. Inactive MEI include L1P, and AluS mobile elements. Rarely observed elements (<10) are combined as other. Classes of structural variation showing an insertional bias (>2.5 fold excess in CHM1) are shaded.
Structural variation between CHM1 and GRCh37.
Insertion | Deletion | Ins/Del | ||||||
---|---|---|---|---|---|---|---|---|
Number | Mean length | Total bases | Number | Mean length | Total bases | Total events | Total bases | |
STR >10bp | 6,007 | 295 | 1,771,948 | 2,986 | 90 | 268,075 | 2.01 | 6.61 |
STR >= 50 bp | 4,289 | 398 | 1,706,524 | 1,530 | 139 | 212,957 | 2.80 | 8.01 |
STR >10, < 50bp | 1,718 | 38 | 65,424 | 1,456 | 38 | 5,518 | 1.18 | 11.86 |
Tandem Repeat | 2,760 | 303 | 836,474 | 2,398 | 182 | 4,361,598 | 1.15 | 0.19 |
MEI | 2,149 | 497 | 1,200,647 | 2,084 | 428 | 841,617 | 1.03 | 1.43 |
AluY | 859 | 302 | 259,810 | 859 | 302 | 259,220 | 1.00 | 1.00 |
LINE/L1HS | 145 | 2,412 | 349,780 | 141 | 2,411 | 339,971 | 1.03 | 1.03 |
SVA | 457 | 369 | 168,762 | 382 | 274 | 104,589 | 1.20 | 1.61 |
HERV | 58 | 338 | 19,619 | 60 | 180 | 10,779 | 0.97 | 1.82 |
Alu+STR/Alu+mosaic | 287 | 413 | 118,486 | 186 | 262 | 46,905 | 1.54 | 2.53 |
Inactive | 343 | 226 | 77,602 | 456 | 176 | 80,153 | 0.75 | 0.97 |
Centromeric satellites | 669 | 693 | 463,687 | 817 | 722 | 590,223 | 0.82 | 0.79 |
HSAT | 46 | 861 | 39,604 | 48 | 790 | 37,935 | 0.96 | 1.04 |
ALR | 622 | 681 | 423,453 | 769 | 718 | 552,288 | 0.81 | 0.77 |
Other | 168 | 112 | 18,790 | 277 | 98 | 27,144 | 0.61 | 0.69 |
Complex | 1,115 | 1,927 | 2,148,642 | 317 | 2,066 | 654,834 | 3.52 | 3.28 |
Unannotated | 2,386 | 60 | 143,598 | 2,313 | 62 | 143,559 | 1.03 | 1.00 |
| ||||||||
Total | 17,851 | 398 | 7,112,381 | 11,819 | 271 | 3,208,633 | 1.51 | 2.22 |
Euchromatic subtotal | 15,776 | 390 | 6,149,335 | 10,303 | 248 | 2,559,644 | 1.53 | 2.40 |
Euchromatic subtotal (>=50 bp) | 9,638 | 542 | 5,237,445 | 6,111 | 358 | 2,189,837 | 1.58 | 2.39 |