Table 1.
Summary of Data Sets
Data Set | Platform | # Samples (before QC) | Total CNVs (HS Overlapping)a | Dels/Sample (kb) | Dups/Sample (kb) | HS Enrichmentb |
---|---|---|---|---|---|---|
PARCc | HumanHap300 | 936 (991) | 2664 (472) | 1.86 (179) | 0.98 (187) | 2 |
NINDSd | HumanHap550e | 671 (790) | 4641 (932) | 5.25 (318) | 1.67 (270) | 2.2 |
HGDPf | HumanHap650Y | 886 (941)g | 6538 (1805) | 5.3 (328) | 2.08 (288) | 3.3 |
all | N/A | 2493 (2722) | 13843 (3209) | 4.00 (269) | 1.56 (245) | 2.5 |
HS, rearrangement hotspot; for more details, see Material and Methods or 35.
Hotspot enrichment, expressed as the ratio (# of overlapping CNVs/bp encompassed) for rearrangement hotspots versus nonhotspots.
More details regarding data set may be found at 27,28.
More details regarding data set may be found at http://ccr.coriell.org/ninds.
A subset of the data was generated as a combination of HumanHap300 plus supplemental 240S SNP Arrays.
More details regarding data set may be found at 30.
Individuals likely to be related were excluded.