| Xq28 region (includes MECP2) |
ISCA-46304 |
| Xp21.2 region (includes NR0B1) |
ISCA-46302 |
| 15q24 recurrent region (C-D) (includes SIN3A) |
ISCA-46300 |
| Xp11.22 region (includes HUWE1) |
ISCA-46299 |
| 16p12.2 recurrent region (includes OTOA) (distal region) |
ISCA-46297 |
| 15q24 recurrent region (A-C) |
ISCA-46296 |
| 15q13.3 recurrent region (D-CHRNA7 to BP5) (includes CHRNA7 and OTUD7A) |
ISCA-46295 |
| 7q11.23 recurrent distal region (includes HIP1, YWHAG) |
ISCA-46291 |
| Xp11.22p11.23 recurrent region (includes SHROOM4) |
ISCA-46290 |
| 2q21.1 recurrent region (includes ARHGEF4, GPR148) |
ISCA-46288 |
| 2p24.3 MYCN-DDX1 duplication region |
ISCA-46287 |
| 15q13 recurrent region (BP3-BP4) (includes APBA2) |
ISCA-46285 |
| 22q11.2 recurrent region (central, B/C-D) (includes CRKL) |
ISCA-37516 |
| 15q25.2q25.3 recurrent region (LCR C-D, distal) |
ISCA-37514 |
| 17q23.1q23.2 recurrent region (includes TBX2, TBX4) |
ISCA-37501 |
| 15q25.2 recurrent region (LCR B-C, proximal) |
ISCA-37500 |
| 11q13.2q13.4 recurrent region (includes SHANK2, FGFs) |
ISCA-37498 |
| 2q13 recurrent region (includes BCL2L11) |
ISCA-37496 |
| 2q11.2 recurrent region (includes ARID5A, LMAN2L) |
ISCA-37495 |
| Xq28 recurrent region (int22h1/int22h2-flanked) (includes RAB39B) |
ISCA-37494 |
| 1q43q44 terminal region (includes AKT3) |
ISCA-37493 |
| 16p11.2 recurrent region (distal, BP2-BP3) (includes SH2B1) |
ISCA-37486 |
| 19q13.3 region (PSG gene cluster) |
ISCA-37483 |
| 3 copies: 16p centromere |
ISCA-37481 |
| 3 copies: 15q telomere |
ISCA-37480 |
| 1 copy: 15q13.3 microdeletion (BP4-5) |
ISCA-37479 |
| 15q11q13 recurrent (PWS/AS) region (BP2-BP3, Class 2) |
ISCA-37478 |
| 1 copy: 14q telomere; 3 copies: 14q telomere |
ISCA-37477 |
| 14q11.2 region (TCRA region) |
ISCA-37476 |
| 8p23.1 region (DEFB gene cluster) |
ISCA-37472 |
| 1 copy: 6p telomere | 3 copies: 6p telomere |
ISCA-37471 |
| 1 copy: 2q telomere|3 copies: 2q telomere |
ISCA-37470 |
| 1q21.2 region (polymorphic region)(non-unique; also maps to chromosomes 16, 7, and others in GRCh38) |
ISCA-37469 |
| Xp11.23 region (includes MAOA and MAOB) |
ISCA-37468 |
| 7q36.3 ZRS (SHH cis-regulatory) duplication region (within LMBR1 intron 5) |
ISCA-37467 |
| 14q32 region associated with UPD(14) phenotypes |
ISCA-37449 |
| 15q11.2 recurrent region (BP1-BP2) (includes NIPA1) |
ISCA-37448 |
| DLK1-MEG3 Intergenic DMR |
ISCA-37447 |
| 22q11.2 recurrent (DGS/VCFS) region (proximal, A-D) (includes TBX1) |
ISCA-37446 |
| 3q29 recurrent region (includes DLG1) |
ISCA-37443 |
| 6q24 region (includes PLAGL1) |
ISCA-37442 |
| 11p11.2 (Potocki-Shaffer syndrome) region (includes ALX4, EXT2) |
ISCA-37441 |
| 2p21 region (includes PREPL and SLC3A1) |
ISCA-37440 |
| Xq28 recurrent region (includes GDI1) |
ISCA-37439 |
| 14q11.2 region including CHD8 and SUPT16H |
ISCA-37438 |
| 3q29 microdeletion |
ISCA-37437 |
| 17p12 recurrent (HNPP/CMT1A) region (includes PMP22) |
ISCA-37436 |
| 1p36 terminal region (includes GABRD) |
ISCA-37434 |
| 22q11.2 recurrent (DGS/VCFS) region (proximal, A-B) (includes TBX1) |
ISCA-37433 |
| 17q12 recurrent (RCAD syndrome) region (includes HNF1B) |
ISCA-37432 |
| 17q11.2 recurrent region (includes NF1) |
ISCA-37431 |
| 17p13.3 (Miller-Dieker syndrome) region (includes YWHAE and PAFAH1B1) |
ISCA-37430 |
| 4p16.3 terminal (Wolf-Hirshhorn syndrome) region |
ISCA-37429 |
| 1q21.1 recurrent (TAR syndrome) region (BP2-BP3, proximal) (includes RBM8A) |
ISCA-37428 |
| 1p36 duplication (GABRD) |
ISCA-37426 |
| 5q35 recurrent (Sotos syndrome) region (includes NSD1) |
ISCA-37425 |
| 10q22.3q23.2 recurrent region (LCR-3/4-flanked) (includes BMPR1A) |
ISCA-37424 |
| 1q21.1 recurrent region (BP3-BP4, distal) (includes GJA5) |
ISCA-37421 |
| 17q21.3 recurrent region (includes KANSL1) |
ISCA-37420 |
| 17p11.2 recurrent (SMS/PLS) region (includes RAI1) |
ISCA-37418 |
| Xp22.31 recurrent region (includes STS) |
ISCA-37417 |
| 16p13.11 recurrent region (BP2-BP3) (includes MYH11) |
ISCA-37415 |
| 16p11.2 distal deletion (SH2B1)|16p11.2 distal duplication (SH2B1) |
ISCA-37412 |
| 15q13.3 recurrent region (BP4-BP5) (includes CHRNA7) |
ISCA-37411 |
| Leri-Weill dyschondrostosis (SHOX) |
ISCA-37410 |
| 16p12.2 recurrent region (includes EEF2K, CDR2) (proximal region) |
ISCA-37409 |
| 2p15p16.1 region (includes BCL11A) |
ISCA-37408 |
| Potocki-Shaffer |
ISCA-37407 |
| 16p13.3 region (includes CREBBP) |
ISCA-37406 |
| 2q13 recurrent region (includes NPHP1) |
ISCA-37405 |
| 15q11q13 recurrent (PWS/AS) region (BP1-BP3, Class 1) |
ISCA-37404 |
| 15q11.2 deletion (NIPA1) BP1-2 |
ISCA-37402 |
| 11p13 (WAGR syndrome) region |
ISCA-37401 |
| 16p11.2 recurrent region (proximal, BP4-BP5) (includes TBX6) |
ISCA-37400 |
| 15q11q13 autism |
ISCA-37398 |
| 22q11.2 recurrent region (distal type I, D-E/F) |
ISCA-37397 |
| 15q24 recurrent region (A-D) (includes SIN3A) |
ISCA-37396 |
| Pelizaeus-Merzbacher (PLP1)|Pelizaeus-Merzbacher (PLP1) |
ISCA-37395 |
| 2q37.3 terminal region (includes HDAC4) |
ISCA-37394 |
| 22q11.21 recurrent (Cat eye syndrome) region (includes CECR2) |
ISCA-37393 |
| 7q11.23 recurrent (Williams-Beuren syndrome) region (includes ELN) |
ISCA-37392 |
| 15q13.3 duplication (CHRNA7) |
ISCA-37391 |
| 5p15 terminal (Cri du chat syndrome) region |
ISCA-37390 |
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