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. Author manuscript; available in PMC: 2020 Mar 1.
Published in final edited form as: Hum Genet. 2019 Feb 20;138(3):241–256. doi: 10.1007/s00439-019-01983-0

Table 1.

Prevalence of deletion junction amongst a panel of 466 individuals with different copy numbers of SMN1 and SMN2.

Known Copy Number
SMN1 SMN2 Total Positive Total Samples Screened Frequency
0 1 6 17 0.35
0 2 3 50 0.060
0 3 1 50 0.020
0 4 0 50 0.0
1 0 12 19 0.63
2 0 23 50 0.46
3 0 3 30 0.10
2 1 17 50 0.34
2 2 0 50 0.0
1 1 17 50 0.34
1 2 2 50 0.04