|
SV class
|
t ⊂ SV
|
t ⇌ SV
|
SV ⊂ e
|
|---|
|
Coding or splice
|
UTR
|
Intronic
|
Promoter
|
|---|
|
DEL
|
1
|
1
|
{0.8, 1}
|
0 ≤ δ(g)≤1
|
0
|
0.4
|
|
DUP
|
1a
|
0
|
{0.8, 1}
|
0 ≤ δ(g)≤1
|
0
|
0.4
|
|
INV
|
0
|
1
|
1
|
0 ≤ δ(g)≤1
|
0
|
0.4
|
|
INS
|
–
|
–
|
{0.2, 0.9}
|
0 ≤ δ(g)≤1
|
0
|
0.4
|
|
BND
|
–
|
–
|
1
|
1
|
1
|
0.4
|
- Higher scores indicate a greater degree of predicted deleterious effect on transcript function. t ⊂ SV: The SV fully contains the transcript in question. t ⇌ SV: Partial overlap of the transcript and the SV. SV ⊂ e The SV is completely contained within the indicated sequence element. {0.8, 1} and {0.2, 0.9} indicate scores for {in-frame, frameshift} variants
- aDuplication of the entire gene is assigned a score of 1, triplication is assigned a score of 2, and so on
