Table 1 The discrepant regions associated with human diseases
From: Characterization of large-scale genomic differences in the first complete human genome
Cytobands | CHM13_Position | Hg38_Position | Type | Reported CNV | Genes | Disease |
|---|---|---|---|---|---|---|
1p13.3 | chr1:109711485–109711489 | chr1:109682999–109701443 | DEL | GSTM1 | Urinary system disease [32] | |
1p21.1 | chr1:103546781–103735057 | chr1:103697900–103697950 | INV | AMY1A, AMY1B, AMYP1 | Neurological disease [33] | |
1p36.13 | chr1:16007445–16027869 | chr1:16565700–16565800 | INS | NBPF1 | Neurodevelopmental disorders [34], Cancer | |
1q21.1-1q21.2 | chr1: 143959965–143983984 | chr1:146251047–148716074 | INV | BCL9, NOTCH2NLB, CHD1L, NBPF12, PRKAB2, FMO5, ACP6, GJA8, GPR89B, NBPF11, NBPF14, PPIAL4G, | ||
1q31.3 | chr1:196105143–196105148 | chr1:196758727–196843410 | DEL | CFHR3, CFHR1 | Immunological disease [35] | |
1q32.2 | chr1:206810072–206810076 | chr1:207542838–207561393 | DEL | CR1 | ||
2q13 | chr2:110517534–110698558 | chr2:110095177–110276210 | INV | Morbid CNV & Disease-related CNV | NPHP1, MALL, MTLN | Neurodevelopmental disorders [29, 30],Neurological disease [31] |
3q29 | chr3:198347865–198715835 | chr3:195641035–195995576 | DEL | Disease- related CNV | MUC20, MUC4, TNK2 | |
5p15.33 | chr5:684792–685093 | chr5:686991–779053 | DEL | ZDHHC11B | Cancer [38] | |
6p21.32 | chr6:32339743–32356931 | chr6:32486765–32530206 | DEL | HLA-DRB5 | Immunological disease [39] | |
6q26 | chr6:161865491–161959834 | chr6:160612509–160612509 | INS | LPA | Cardiovascular disease [40] | |
7q35 | chr7:145,477,647–145477649 | chr7:144197172–144295737 | DEL | OR2A42, OR2A7, CTAGE8 | Cancer [41] | |
8p23.1 | chr8:750030–11722000 | chr8:8022351–12234558 | INV | Morbid CNV | DLGAP2, MYOM2, CLN8, ARHGEF, CSMD1, MCPH1, ANGPT2, PRR23D1, DEFB103B, DEFB103A, DEF104A, DEF105A, XKR6, SOX7, TNKS, PPP1R3B, PPAG1, CTSB, ANGPT2, AGPAT5, ERI1, MSRA, DEFA5, FDFT1, GATA4, MFHAS1, PRSS5 | |
10q11.22 | chr10:48671598–48719249 | chr10:47780140–47870155 | SDR | Disease-related CNV | GPRIN2 | Neurological disease [42] |
11p15.5 | chr11:1076897–1087865 | chr11:1017980–1017990 | INS | MUC6 | Neurological disease [43] | |
12p13.2 | chr12:10315804–10315827 | chr12:10429009–10444430 | DEL | KLRC2 | ||
16p11.2 | chr16:30492288–30594258 | chr16:30207700–30207750 | INS | Disease- related CNV | NPIPB13, BOLA2B | |
16p12.1–12.2 | chr16:28619710–29091966 | chr16:28339205–28811381 | INV | Disease- related CNV | SULT1A1, SULT1A2, NPIPB8, NPIPB6 EIF3CL, NPIPB7, CLN3, IL27, EIF3C, NPIPB9 | Neurodevelopmental disorders [29, 30], Neurological disease [31] |
17p11.2 | chr17:16716173–16767175 | chr17:16813513–16821452 | SDR | Disease-related CNV | LGALS9C | |
17q12 | chr17:37341285–37441106 | chr17:36393230–36459266 | SDR | Disease-related CNV | CCL3L1, CCL4L2, TBC1D3F | |
19q13.2 | chr19:42710594–42726422 | chr19:39906200–39906250 | INS | FCGBP | Reproductive system disease [47] | |
20p13 | chr20:1629529–1629530 | chr20:1580346–1613395 | DEL | SIRPB1 | Immunological disease [48] | |
22q11.23 | chr22:24380000–24462473 | chr22:23932712–24000827 | SDR | Disease-related CNV | GSTT2, GSTT4, DDT | Neurodevelopmental disorders [29, 30], Neurological disease [31] |
Xp11.22 | chrX:50939534–50996879 | chrX:51668108–51725222 | INV | CENPVL1, CENPVL2 | Neurodevelopmental disorders [49] | |
Xp22.33 | chrX:1307333–1307498 | chrX:1465426–1506104 | DEL | P2RY8 | Immunological disease [50] | |
Xq26.3 | chrX:134047172–134104452 | chrX:135721633–135795043 | SDR | CT45A1, CT45A3, CT45A5, | Cancer [51] | |
Xq28 | chrX:147946883–147987904 | chrX:149681127–149722143 | SDR | MAGEA11 | Cancer [52] |