Suzanne de Bruijn

211 Structural variants cause ectopic enhancer-gene contact in retinitis pigmentosa PRR11 SMG8 GDPD1 YPEL2 LINC01476 MIR4729 SV4: 57,233,035 SV3: 57,247,615 SV3: 57,516,678 SV2: 57,275,839 SV1: 57,291,905 SV3: 57,391,678 SV2: 57,456,098 SV2: 57,468,960 SV4: 57,483,883 SV3: 57,499,214 SV6: 57,510,765 SV5: 57,515,862 SV1: 57,518,137 SV2: 57,559,114 SV3: 57,612,711 SV4: 57,634,900 SV5: 57,260,511 SV6: 57,295,969 NL-SV1 UK-SV2 SA-SV3 CA-SV4 NL-SV5 UK-SV6 DHX40 CLTC SV7: 57,259,525 SV7: 57,453,630 SV7: 57,468,931 SV7: 57,710,821 UK-SV7 SV4: 57,280,008 SV8: 57,277,347 SV8: 57,326,234 SV8: 57,413,153 UK-SV8 SV8: 57,631,659 Figure S4. Overview of all SV breakpoints identified in the RP17-locus. Breakpoints are indicated with dashed lines. Duplicated, triplicated or inverted genomic regions for each SV are illustrated with blue, dark blue or purple bars, respectively. An overlapping genomic region that is duplicated or triplicated in all SVs was identified (chr17:57,499,214-57,510,765) and is highlighted by a light-blue vertical bar. The size of DHX40 is reduced and CLTC is only partially shown in this figure.