Copy Number Variants Overview

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), 261183 (microdeletion), 238446 (microduplication), 3306 (inverted duplication) 176270, 615547, 105830, 615656, 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
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-q21.2 1q21.1-q21.2 1 146527987 147394444 WP4905 NA NA PRKAB2, FMO5, CHD1L more
1q21.1 1q21.1 1 145394955 145807817 WP5362 250989 (microdeletion), 250994 (microduplication) 612474, 612475 HJV, TXNIP, POLR3GL more
22q11.21 22q11.21 22 18912231 21465672 WP4657 567 (deletion), 1727 (duplication) 125520, 192430, 188400, 608363 PRODH, DGCR5, DGCR2 more
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 111394040 112012649 WP5222 NA NA BUB1, ACOXL, BCL2L11
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