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CNV locus | Study design | Patients | CNV type | Candidate gene | References |
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1q21.1 | Illumina 1M-single array | 996 ASD patients 1,287 controls | Deletion-duplication | BCL9 | [10] |
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1q21.1 | Array-CGH | 119 ASD patients | Deletion-duplication | | [19] |
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1q21.1 | Affymetrix 10K SNP arrays | 1,496 ASD families | Deletion-duplication | | [20] |
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2p16.3 | Affymetrix 10K SNP arrays | 1,496 ASD families | Deletion-duplication | NRXN1 | [20] |
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2p16.3 | Illumina 1M-single array | 996 ASD patients 1,287 controls | Deletion-duplication | NRXN1 | [10] |
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2p16.3 | Illumina HumanHap550 BeadChip | 1,336 ASD patients 1110 controls | Deletion-duplication | NRXN1 | [21] |
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2p16.3 | Array-CGH | 223 ASD patients | Deletion-duplication | NRXN1 | [22] |
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3p26.3 | Illumina 1M-single array | 996 ASD patients 1,287 controls | Deletion-duplication | CNTN4 | [10] |
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3p26.3 | Illumina HumanHap550 BeadChip | 1,336 ASD patients 1110 controls | Deletion-duplication | CNTN4 | [21] |
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3p26.3 | Array-CGH | 223 ASD patients | Deletion-duplication | CNTN4 | [22] |
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6q26 | Illumina HumanHap550 BeadChip | 1,336 ASD patients 1110 controls | Deletion-duplication | PARK2 | [21] |
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6q26 | Array-CGH | 223 ASD patients | Deletion-duplication | PARK2 | [23] |
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6q26 | Illumina 1M-single array | 996 ASD patients 1,287 controls | Deletion-duplication | PARK2 | [10] |
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6q26 | Affymetrix 10K SNP arrays | 1,496 ASD families | Deletion-duplication | PARK2 | [20] |
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7q11.22 | Illumina HumanHap550 BeadChip | 1,336 ASD patients 1110 controls | Duplication | AUTS2 | [21] |
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7q11.22 | Illumina 1M-single array | 996 ASD patients 1,287 controls | Duplication | AUTS2 | [10] |
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7q11.22 | Array-CGH | 96 ASD patients | Duplication | AUTS2 | [24] |
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8p23.1 | Array-CGH | 28 ASD patients 62 controls | Deletion | DEFENSIN (DEFA5) | [25] |
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15q11-q13 | Array-CGH | 397 ASD patients 372 controls | Duplication | UBE3A, GABRG3, GABRB3, GABRA5 | [26] |
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15q11-q13 | Illumina 1M-single array | 996 ASD patients 1,287 controls | Duplication | UBE3A, GABRG3, GABRB3, GABRA5 | [10] |
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15q11-q13 | Illumina HumanHap550 BeadChip | 1,336 ASD patients 1110 controls | Duplication | | [19] |
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15q11-q13 | CGH | 118 ASD patients 196 controls | Duplication | UBE3A, GABRG3, GABRB3, GABRA5 | [27] |
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15q11-q13 | Affymetrix GeneChip Human Mapping 500K Array | 427 ASD patients 500 controls | Duplication | UBE3A, GABRG3, GABRB3, GABRA5 | [11] |
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15q13.3 | Illumina 1M-single array | 996 ASD patients 1,287 controls | Deletion | CHRNA7 | [10] |
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15q13.3 | Array-CGH | 119 ASD patients | Deletion | CHRNA7 | [19] |
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15q13.3 | Array-CGH | 223 ASD patients | Deletion | CHRNA7 | [22] |
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16p11.2 | CGH | 118 ASD patients 196 controls | Deletion-duplication | A2BP1 | [27] |
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16p11.2 | Affymetrix GeneChip Human Mapping 500K Array | 427 ASD patients 500 controls | Deletion-duplication | | [11] |
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16p11.2 | Illumina HumanHap550 BeadChip | 1,336 ASD patients 1110 controls | Deletion-duplication | | [19] |
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16p11.2 | Illumina 1M-single array | 996 ASD patients 1,287 controls | Deletion-duplication | MVP, GDPD3 | [10] |
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16p11.2 | Array-CGH | 223 ASD patients | Deletion-duplication | | [22] |
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17p11.2 | Array-CGH | 28 ASD patients 62 controls | Deletion | | [25] |
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22q11.21 | Affymetrix 10K SNP arrays | 1,496 ASD families | Deletion-duplication | | [28] |
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22q11.21 | Affymetrix GeneChip Human Mapping 500K Array | 427 ASD patients 500 controls | Deletion-duplication | | [11] |
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22q11.21 | Illumina HumanHap550 BeadChip | 1,336 ASD patients 1110 controls | Deletion-duplication | | [21] |
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22q11.21 | Illumina 1M-single array | 996 ASD patients 1,287 controls | Deletion-duplication | DiGeorge Syndrome region | [10] |
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22q11.21 | Array-CGH | 223 ASD patients | Deletion-duplication | PI4KA, SNAP29, TBX1, SLC7A4 SLC25A1, HIC2, UBE2L3, YPEL1, MAPK1 | [22] |
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22q13.33 | Affymetrix 10K SNP arrays | 1,496 ASD families | Deletion-duplication | SHANK3 | [20] |
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22q13.33 | Affymetrix GeneChip Human Mapping 500K Array | 427 ASD patients 500 controls | Deletion-duplication | SHANK3 | [11] |
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22q13.33 | Illumina HumanHap550 BeadChip | 1,336 ASD patients 1110 controls | Deletion-duplication | SHANK3 | [21] |
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22q13.33 | Illumina 1M-single array | 996 ASD patients 1,287 controls | Deletion-duplication | SHANK3 | [10] |
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22q13.33 | Array-CGH | 223 ASD patients | Deletion-duplication | SHANK3 | [22] |
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22q13.33 | Illumina HumanHap300 Beadchips | 105 ASD patients 267 controls | Deletion-duplication | SHANK3 | [29] |
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Xq27.2 | Illumina iSelect array | 2175 ASD patients 5801 controls | Deletion | SPANXC | [30] |
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Xq28 | Illumina iSelect array | 2175 ASD patients 5801 controls | Deletion | MAGEA8 | [30] |
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