[Preprint]. 2023 Dec 30:2023.12.28.23300612. [Version 1] doi: 10.1101/2023.12.28.23300612

Table 6.

High-confident structural variants in the H1/H2 haplotype region

Name	Size	N	AF	AF (PSP)	AF (Control)	Gene	Annotation

chrl 7:46099028–46099351 :DEL^a^*	323	3,699	0.24	0.11	0.28	KANSL1	intron
chr17:46146541–46146855:DEL^a^*	314	3,697	0.21	0.08	0.25	KANSL1	intron
chrl 7:46237619–46238142: DEL^a	523	3,686	0.19	0.09	0.22	MAPK8IP1P1	intergenic
chr17:46009357–46009595:DEL^a^*	238	4,357	0.19	0.05	0.23	MAPT	intron
chr17:46277789–46282210:DEL	4,421	4,233	0.12	0.03	0.15	ARL17B	intron

chr17:46113802–46113802:INS	311	2,464	0.31	0.32	0.32	KANSL1	intron

Name	Size	N	N (Carriers)	N (PSP)	N (Control)	Gene	Annotation

chr17:46811121–46811289:DEL^a	168	2,614	36	15	21	WNT3	intron
chr17:45847702–45851880:DEL^a	4,178	4,427	31	17	14	MAPT-AS1	splicing
chr17:46837153–46839088:DEL^a	1,935	4,415	12	8	4	WNT9B	intron
chr17:45918825–45920861:DEL^a	2,036	4,422	1	0	1	MAPT	intron
chr17: 45 916681 –45920693 :DEL	4,012	4,430	3	0	3	MAPT	intron
chr17:45570198–45572012:DEL	1,814	4,243	3	2	1	AC091132.4	intron
chr17:45334194–45381549:DEL^a	47,355	4,430	1	0	1	AC003070.2	transcript ablation
chr17:45311955–45312258:DEL	303	4,365	2	0	2	MAP3K14	intron
chr17:45894637–45914976:DUP^a	20,339	4,260	1	1	0	MAPT-AS1	transcript amplification
chr17:45993882–45993970:DEL^a	88	4,283	1	1	0	MAPT	splicing
chr17:45665996–45666370:DEL^a	374	4,412	1	1	0	LINC02210-CRHR1	TFBS ablation
chr17:45879141–45881180:DEL	2,039	4,431	1	1	0	MAPT-AS1	intron

chr17:45741582–45741582:INS	315	4,420	10	4	6	LINC02210-CRHR1	intergenic
chr17:45929579–45929579:INS	453	3,025	5	1	4	MAPT	intron
chr17:46754483–46754483 :INS	330	3,692	12	2	10	NSF	intron

AF, allele frequency; N, number of individuals with non-missing genotypes.

High-quality SVs that were included in association analysis.

Represents SVs with DNA samples available and PCR validated.