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supplementary appendix final.xlsx
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CTSK chr1:150774000. Not Applicable chr1:157074000. Inversion. 6,300,000 chr1:150774000/-/chr1:157074000/+ and chr1:157074000/-/chr1:150774000/+.
Table S3. Structural variants identified by whole genome sequencing.
First Gene Symbol
First Breakpoint (hg19)
Second Gene Second Breakpoint Intrachromosomal Observed Symbol (hg19) Type Size
CTSK
chr1:150774000
Not Applicable
chr1:157074000
Inversion
6,300,000
chr1:150774000/-/chr1:157074000/+ and chr1:157074000/-/chr1:150774000/+
RABGAP1L
chr1:174403000
Not Applicable
chr1:194383000
Deletion
19,980,000
chr1:174403000/+/chr1:194383000/+ and chr1:194383000/-/chr1:174403000/-
Not Applicable
chr1:200188000
Not Applicable
chr1:211310000
Inversion
11,122,000
chr1:200188000/-/chr1:211310000/+ and chr1:211310000/-/chr1:200188000/+
Not Applicable
chr1:211321000
RP11-323I1.1
chr1:213967000
Inversion
2,646,000
chr1:211321000/-/chr1:213967000/+ and chr1:213967000/-/chr1:211321000/+
CTNNA2
chr2:80217000
CTNNA2
chr2:80753000
Inversion
536,000
chr2:80217000/-/chr2:80753000/+ and chr2:80753000/-/chr2:80217000/+
CTNNA2
chr2:80217000
Not Applicable
chr2:81778000
Duplication
1,561,000
chr2:80217000/-/chr2:81778000/- and chr2:81778000/+/chr2:80217000/+
Not Applicable
chr4:29106000
RP11-8L2.1
chr4:84908000
Inversion
55,802,000
chr4:29106000/-/chr4:84908000/+ and chr4:84908000/-/chr4:29106000/+
Not Applicable
chr7:53198000
Not Applicable
chr7:53207000
Deletion
9,000
chr7:53198000/+/chr7:53207000/+ and chr7:53207000/-/chr7:53198000/-
DUX4L3
chr10:135487176
DUX4L3
chr10:135491849
Deletion
4,673
chr10:135487176/+/chr10:135491849/+ and chr10:135491849/-/chr10:135487176/-
VMP1
chr17:57899000
APPBP2
chr17:58580000
Duplication
681,000
chr17:57899000/-/chr17:58580000/- and chr17:58580000/+/chr17:57899000/+
Rearrangement Orientation
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