Table S1: CNV Burden Statistics for Utah Cohort- All 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

The complete set of CNVs for this cohort.
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	Size	Ncnv	A_rate	O_rate	C_rate	Co_pv	P_oa	Sema_rate	Semo_rate	Semc_rate	A_totkb	O_totkb	C_totkb	P_totkb	Sema_totkb	Semo_totkb	Semc_totkb
all	all	3065	21.05714	20.77551	21.12903	0.95491	0.91784	0.75698	0.78964	0.69883	1912.21677	1624.8881	2148.73097	0.36565	162.90504	114.35544	225.33463
dels	all	2571	17.65714	17.87755	17.37097	0.54964	0.55961	0.71119	0.7288	0.56105	1152.08737	1094.80147	1003.06058	0.30424	123.65414	93.00298	75.27992
dups	all	494	3.4	2.89796	3.75806	0.10992	0.35733	0.29046	0.28459	0.372	760.1294	530.08663	1145.67039	0.11372	114.3344	68.28937	222.19374
x-all	all	118	0.714	1.02	0.694	0.032	0.286	0.227	0.122	0.107	96.681	62.969	41.298	0.219	45.487	13.552	12.025
x-dels	all	109	0.629	0.959	0.645	0.032	0.305	0.221	0.12	0.108	74.655	59.286	41.224	0.312	44.025	13.568	12.029
x-dups	all	9	0.086	0.061	0.048	0.773	0.572	0.048	0.035	0.027	22.026	3.683	0.074	0.518	14.413	2.944	0.05
y-all	all	82	0.4	0.551	0.661	0.763	0.662	0.149	0.16	0.156	231.095	221.936	276.197	0.743	95.201	67.546	65.645
y-dels	all	81	0.4	0.551	0.645	0.89	0.807	0.149	0.16	0.156	231.095	221.936	272.515	0.89	95.201	67.546	65.793
y-dups	all	1	0	0	0.016	0.384	0.25	0	0	0.016	0	0	3.682	0.25	0	0	3.682
auto-all	all	2865	19.943	19.204	19.774	0.847	0.907	0.696	0.727	0.717	1584.441	1339.983	1831.236	0.744	126.349	84.544	226.318
auto-dels	all	2381	16.62857	16.36735	16.08065	0.70316	0.53051	0.64049	0.65575	0.56249	846.33731	813.57894	689.32202	0.03933	61.71808	52.22676	32.12892
auto-dups	all	484	3.314	2.837	3.694	0.118	0.349	0.301	0.279	0.369	738.103	526.404	1141.914	0.083	115.681	68.138	222.216