Table S1: CNV Burden Statistics for Utah Cohort- 100kb 5p sums

LOPES, Alexandra M., et al. Human spermatogenic failure purges deleterious mutation load from the autosomes and both sex chromosomes, including the gene DMRT1. PLoS genetics, 2013, 9. Jg., Nr. 3, S. e1003349.

Publication: https://doi.org/10.1371/journal.pgen.1003349

Description

All CNVs with call frequency less than 5 percent and greater than 100kb in size.
Class: Genomic location and type of CNV (deletions or duplications)
Size: Size threshold for inclusion of CNV into analysis
a_rate: Average number of CNVs in azoospermic cases
o_rate:Average number of CNVs in oligozoospermic cases
c_rate: Average number of CNVs in normospermic controls
co_pv: p-value of test comparing rates in combined azoo+ozoo cases versus controls
p_oa: p-value of test comparing rates in azoospermic versus oligozoospermic cases
a_totkb: Average total amount of aneuploid sequence in azoospermic cases
o_totkb: Average total amount of aneuploid sequence in oligozoospermic cases
c_totkb: Average total amount of aneuploid sequence in normospermic controls
p_totkb: p-value of test comparing total amount of aneuploid sequence in combined cases versus controls (a_totkb+o_totkb vs c_totkb)

Disclaimer

The publication Human Spermatogenic Failure Purges Deleterious Mutation Load from the Autosomes and Both Sex Chromosomes, including the Gene DMRT1 by Alexandra M. Lopes, Kenneth I. Aston, Emma Thompson, Filipa Carvalho, João Gonçalves, Ni Huang, Rune Matthiesen, Michiel J. Noordam, Inés Quintela, Avinash Ramu, Catarina Seabra, Amy B. Wilfert, Juncheng Dai, Jonathan M. Downie, Susana Fernandes, Xuejiang Guo, Jiahao Sha, António Amorim, Alberto Barros, Angel Carracedo, Zhibin Hu, Matthew E. Hurles, Sergey Moskovtsev, Carole Ober, Darius A. Paduch, Joshua D. Schiffman, Peter N. Schlegel, Mário Sousa, Douglas T. Carrell, Donald F. Conrad is published under an open access no derivatives license: : https://creativecommons.org/licenses/by/4.0/. Permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.

Curation by the MFGA team

Pie chart of selected column

Table

Class	A_totkb	O_totkb	C_totkb	Sema_totkb	Semo_totkb	Semc_totkb	Freq	Ncnv	A_rate	O_rate	C_rate	P_oa	Sema_rate	Semo_rate	Semc_rate	P_totkb
all	78.399.226	47.334.739	73.843.071	12.613.257	6.530.957	17.399.955	1.00E+05	295	254.286	173.469	195.161	0.08732	0.29088	0.20779	0.29844	0.18693
dels	34.398.243	24.392.102	11.621.789	9.550.719	4.400.518	2.331.486	1.00E+05	123	1.2	0.97959	0.53226	0.00305	0.23479	0.16875	0.08517	0.0031
dups	44.000.983	22.942.637	62.221.282	9.564.912	5.016.571	17.245.826	1.00E+05	172	134.286	0.7551	141.935	0.83762	0.19637	0.12209	0.28956	0.86315
x-all	83.968	35.223	19.428	42.376	13.184	9.326	1.00E+05	24	0.286	0.184	0.081	0.117	0.133	0.063	0.035	0.126
x-dels	61.942	32.363	19.428	40.844	13.019	9.326	1.00E+05	20	0.2	0.163	0.081	0.421	0.128	0.061	0.035	0.443
x-dups	22.026	2.86	0	14.413	2.86	0	1.00E+05	4	0.086	0.02	0	0.084	0.048	0.02	0	0.084
y-all	107.026	14.774	11.314	77.44	10.383	8.419	1.00E+05	9	0.114	0.061	0.032	0.208	0.055	0.035	0.023	0.205
y-dels	107.026	14.774	7.632	77.44	10.383	7.632	1.00E+05	8	0.114	0.061	0.016	0.08	0.055	0.035	0.016	0.079
y-dups	0	0	3.682	0	0	3.682	1.00E+05	1	0	0	0.016	0.25	0	0	0.016	0.25
auto-all	592.998	423.35	707.688	101.947	64.434	174.709	1.00E+05	262	2.143	1.49	1.839	0.237	0.256	0.194	0.302	0.42
auto-dels	175.014	196.784	89.157	40.059	41.605	19.259	1.00E+05	95	0.886	0.755	0.435	0.016	0.168	0.141	0.078	0.012
auto-dups	417.984	226.566	618.531	96.013	50.212	172.568	1.00E+05	167	1.257	0.735	1.403	0.998	0.202	0.119	0.289	0.735