Table S1: CNV Burden Statistics for Utah Cohort- 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.
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	1024	7.11429	7.14286	6.85484	0.58223	0.54738	0.63613	0.58248	0.4338	934.34569	641.68563	892.29644	0.2842	132.72703	71.49359	175.10198
dels	all	706	4.8	5.36735	4.43548	0.27086	0.56477	0.59239	0.54919	0.2494	442.26406	354.71029	223.69826	0.05311	100.73883	51.79605	23.95095
dups	all	318	2.31429	1.77551	2.41935	0.32703	0.91926	0.23469	0.20468	0.31409	492.08163	286.97535	668.59818	1	95.66609	51.6263	173.04664
x-all	all	67	0.429	0.551	0.403	0.279	0.825	0.21	0.105	0.081	88.757	35.953	27.374	0.587	45.531	9.773	10.447
x-dels	all	58	0.343	0.49	0.355	0.247	0.948	0.209	0.097	0.08	66.731	32.27	27.299	0.915	44.18	9.581	10.45
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	9	0.114	0.061	0.032	0.472	0.208	0.055	0.035	0.023	107.026	14.774	11.314	0.205	77.44	10.383	8.419
y-dels	all	8	0.114	0.061	0.016	0.211	0.08	0.055	0.035	0.016	107.026	14.774	7.632	0.079	77.44	10.383	7.632
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	948	6.571	6.531	6.419	0.573	0.46	0.554	0.545	0.442	738.563	590.959	853.609	0.414	106.881	70.005	175.797
auto-dels	all	640	4.34286	4.81633	4.06452	0.25001	0.44715	0.47975	0.49972	0.25072	268.50769	307.66643	188.76682	0.12794	42.37429	49.15781	20.18077
auto-dups	all	308	2.229	1.714	2.355	0.369	0.927	0.239	0.196	0.313	470.056	283.293	664.842	0.858	96.12	51.213	173.146