Copy Number Variants Overview
38
Genomic Locations
50
Disorders (deletion/duplication)
827
Phenotypes
595
Genes
| CNV | Locus | Chr | Start | End | WikiPathways | ORPHAcode | OMIM | Genes |
|---|---|---|---|---|---|---|---|---|
| 10q11.21-q11.23 | 10q11.21-q11.23 | 10 | 49390199 | 51058796 | WP5352 | NA | NA | FRMPD2, MAPK8, ARHGAP22 more |
| 10q23.1-q23.2 | 10q23.1-q23.2 | 10 | 82045472 | 88931651 | WP5402 | 276413 (microdeletion), 276422 (microduplication) | 612242 | MAT1A, DYDC1, DYDC2 more |
| 11p11.2 | 11p11.2 | 11 | 43940000 | 46020000 | WP5348 | 52022 (deletion) | 601224 | ALKBH3, C11orf96, ACCS more |
| 13q12.11-CRYL1 | 13q12.11 | 13 | 20977806 | 21100012 | WP5405 | NA | NA | CRYL1 |
| 13q12.12 | 13q12.12 | 13 | 23555358 | 24884622 | WP5406 | NA | NA | SGCG, SACS, TNFRSF19 more |
| 15q11.2-q13.1 | 15q11.2-q13.1 | 15 | 22805313 | 28390339 | WP3998 | 739 (deletion), 72 (deletion), 238446 (microduplication), 3306 (inverted duplication) | 176270, 615547, 105830, 608636 | TUBGCP5, CYFIP1, NIPA2 more |
| 15q11.2 | 15q11.2 | 15 | 22805313 | 23094530 | WP4940 | 261183 (microdeletion) | 615656 | TUBGCP5, CYFIP1, NIPA2 more |
| 15q13.1-q13.3 | 15q13.1-q13.3 | 15 | 29161368 | 32462776 | WP5407 | 238446 (microduplication) | 608636 | APBA2, ENTREP2, NSMCE3 more |
| 15q13.2-q13.3 | 15q13.2-q13.3 | 15 | 30500000 | 32500000 | WP4942 | 199318 (microdeletion) | 612001 | CHRFAM7A, GOLGA8R, GOLGA8Q more |
| 15q25.2-q25.3 | 15q25.2-q25.3 | 15 | 83219735 | 85722039 | WP5408 | NA | NA | CPEB1, AP3B2, FSD2 more |
| 16p11.2-distal | 16p11.2 | 16 | 28823196 | 29046783 | WP4950 | 261222 (microdeletion) | 613444 | ATXN2L, TUFM, SH2B1 more |
| 16p11.2-proximal | 16p11.2 | 16 | 29592751 | 30190593 | WP4949 | 370079 (microduplication), 261197 (microdeletion) | 614671, 611913 | SPN, QPRT, C16orf54 more |
| 16p12.2 | 16p12.2 | 16 | 21950135 | 22431889 | WP5510 | 485405 (triplication) | NA | UQCRC2, PDZD9, MOSMO more |
| 16p13.11 | 16p13.11 | 16 | 15511655 | 16293689 | WP5502 | 261236 (microdeletion), 261243 (microduplication) | NA | BMERB1, MARF1, NDE1 more |
| 16p13.3 | 16p13.3 | 16 | 3775056 | 3930121 | WP5367 | 96078 (microduplication), 353281 (microdeletion) | 613458, 610543 | CREBBP |
| 17p11.2 | 17p11.2 | 17 | 16812771 | 20211017 | WP5381 | 819 (microdeletion), 1713 (microduplication) | 182290, 610883 | TNFRSF13B, MPRIP, PLD6 more |
| 17p13.3-PAFAH1B1 | 17p13.3 | 17 | 2496949 | 2588909 | WP5409 | 531 (deletion), 217385 (microduplication) | 247200, 613215 | PAFAH1B1 |
| 17p13.3-YWHAE | 17p13.3 | 17 | 1247834 | 1303556 | WP5376 | 261257 (microdeletion), 531 (deletion), 217385 (microduplication) | 247200, 613215 | YWHAE |
| 17q11.2 | 17q11.2 | 17 | 29100000 | 30280000 | WP5366 | 97685 (microdeletion), 139474 (microduplication) | 613675, 618874 | CRLF3, ATAD5, TEFM more |
| 17q12 | 17q12 | 17 | 34815904 | 36217432 | WP5287 | 261265 (microdeletion), 261272 (microduplication) | 614527, 614526 | ZNHIT3, MYO19, PIGW more |
| 1p36.33-p36.32 | 1p36.33-p36.32 | 1 | 0 | 2500000 | WP5345 | 1606 (deletion), 656279 (duplication), 96069 (distal duplication) | 616975, 607872, 618815 | OR4F5, OR4F29, OR4F16 more |
| 1q21.1-proximal,BP2-BP3 | 1q21.1 | 1 | 145394955 | 145807817 | WP5362 | 3320 (deletion) | 274000 | HJV, TXNIP, POLR3GL more |
| 1q21.1-q21.2-distal | 1q21.1-q21.2 | 1 | 146527987 | 147394444 | WP4905 | 250989 (microdeletion), 250994 (microduplication) | 612474, 612475 | PRKAB2, FMO5, CHD1L more |
| 22q11.2-distal,type-I,D-E,D-F | 22q11.2 | 22 | 21920127 | 23653646 | WP5546 | 261330 (microdeletion), 261337 (microduplication) | 611867 | UBE2L3, YDJC, CCDC116 more |
| 22q11.21 | 22q11.21 | 22 | 18912231 | 21465672 | WP4657 | 567 (deletion), 1727 (duplication) | 125520, 192430, 188400, 608363 | PRODH, DGCR5, DGCR2 more |
| 22q13.33 | 22q13.33 | 22 | 51113070 | 51171640 | WP5566 | 48652 (deletion) | 606232 | SHANK3 |
| 2q11.1-q11.2 | 2q11.1-q11.2 | 2 | 96742409 | 97677516 | WP5221 | NA | NA | ADRA2B, ASTL, DUSP2 more |
| 2q13-NPHP1 | 2q13 | 2 | 110880926 | 110962590 | WP5399 | NA | NA | NPHP1 |
| 2q13 | 2q13 | 2 | 111490116 | 113966973 | WP5222 | 684742 (microdeletion) | NA | ACOXL, BCL2L11, ANAPC1 more |
| 2q21.1 | 2q21.1 | 2 | 131481308 | 131930677 | WP5223 | NA | NA | GPR148, AMER3, ARHGEF4 more |
| 2q37.3 | 2q37.3 | 2 | 239716679 | 243199373 | WP5224 | 1001 (microdeletion) | 600430 | TWIST2, HDAC4, NDUFA10 more |
| 3q29 | 3q29 | 3 | 195788299 | 197033296 | WP4906 | 65286 (microdeletion), 251038 (microduplication) | 609425, 611936 | TFRC, ZDHHC19, SLC51A more |
| 4p16.3 | 4p16.3 | 4 | 1552030 | 2091303 | WP5365 | 96072 (microduplication) | NA | FAM53A, SLBP, TMEM129 more |
| 5q35.2-q35.3 | 5q35.2-q35.3 | 5 | 175720924 | 177052594 | WP5380 | 1627 (deletion), 228415 (microduplication) | NA | SIMC1, KIAA1191, ARL10 more |
| 7q11.23-distal | 7q11.23 | 7 | 75138294 | 76064412 | WP5401 | 254351 (distal microdeletion), 261102 (distal microduplication) | 613729 | RHBDD2, POR, TMEM120A more |
| 7q11.23 | 7q11.23 | 7 | 72744454 | 74142513 | WP4932 | 96121 (microduplication), 904 (deletion) | 609757, 194050 | FKBP6, FZD9, BAZ1B more |
| 8p23.1 | 8p23.1 | 8 | 8098990 | 11872558 | WP5346 | 251076 (duplication), 251071 (microdeletion) | NA | CLDN23, MFHAS1, ERI1 more |
| 8q11.23 | 8q11.23 | 8 | 53535019 | 53626995 | WP5412 | NA | NA | RB1CC1 |