AutismKB 2.0

View CNVs/SVs


View by Evidence Type: de novo CNVs ( CNVs Only Present In Patients   de novo CNVs   Overlapping/Recurrent CNVs  
                                        CNVs Overlapping With ACRD   CNVs Not Present In Control   Significant Enriched CNVs   Others  All  )


View by Chromosome:All ( 1 2 3 4 5 6 7 8 9 10 11 12 13 14 15 16 17 18 19 20 21 22 X  Y  All  )


Notes: ACRD: Autism Chromosome Rearrangement Database
CNV Name Chr Band Gain/Loss Number of CNVs Evidence Type Reference
Case Control
AutCNV0003864 22 22q11.21 loss 1 - de novo CNVs; Levy, 2011
AutCNV0003865 22 22q11.21 loss 1 - de novo CNVs; Levy, 2011
AutCNV0003866 22 22q12.1 loss 1 - de novo CNVs; Levy, 2011
AutCNV0003867 22 22q13.1 loss 1 - de novo CNVs; Levy, 2011
AutCNV0003868 X 23p22.11 loss 1 - de novo CNVs; Levy, 2011
AutCNV0003869 X 23q13.1 loss 1 - de novo CNVs; Levy, 2011
AutCNV0003870 X 23q28 gain 1 - de novo CNVs; Levy, 2011
AutCNV0004201 2 2p16.3 gain 1 - Overlapping/Recurrent CNVs; de novo CNVs; Sanders, 2011
AutCNV0004202 2 2p16.3 loss 1 - Overlapping/Recurrent CNVs; de novo CNVs; Sanders, 2011
AutCNV0004204 2 2p16.3 loss 1 - Overlapping/Recurrent CNVs; de novo CNVs; Sanders, 2011
AutCNV0004205 2 2p16.3 loss 1 - Overlapping/Recurrent CNVs; de novo CNVs; Sanders, 2011
AutCNV0004211 2 2q31.2 loss 1 - de novo CNVs; Sanders, 2011
AutCNV0004219 3 3p24.3 loss 1 - de novo CNVs; Sanders, 2011
AutCNV0004249 6 6p25.3 gain 1 - de novo CNVs; Sanders, 2011
AutCNV0004251 6 6p21.32 loss 1 - de novo CNVs; Sanders, 2011
AutCNV0004259 6 6q25.3 gain 1 - de novo CNVs; Sanders, 2011
AutCNV0004265 7 7q22.1 loss 1 - de novo CNVs; Sanders, 2011
AutCNV0004272 7 7q36.2 loss 1 - Overlapping/Recurrent CNVs; de novo CNVs; Sanders, 2011
AutCNV0004273 8 8p23.3 gain 1 - Overlapping/Recurrent CNVs; de novo CNVs; Sanders, 2011
AutCNV0004276 8 8q11.21 gain 1 - de novo CNVs; Sanders, 2011
AutCNV0004277 8 8q12.3-q13.1 loss 1 - de novo CNVs; Sanders, 2011
AutCNV0004280 9 9p24.3 loss 1 - Overlapping/Recurrent CNVs; de novo CNVs; Sanders, 2011
AutCNV0004281 9 9p24.2-p24.3 loss 1 - Overlapping/Recurrent CNVs; de novo CNVs; Sanders, 2011
AutCNV0004283 9 9p23 loss 1 - de novo CNVs; Sanders, 2011
AutCNV0004293 11 11q13.3 loss 1 - Overlapping/Recurrent CNVs; de novo CNVs; Sanders, 2011

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  (e.g. CHD8)

Syndromic Genes

Non-syndromic Genes

AutismKB Statistics

  • Studies: 1,036
  • Genes: 1,379
  • CNVs/SVs: 5,420
  • SNVs/Indels: 11,669
  • de novo Mutations: 5,669
  • Mosaics: 789
  • Linkage Regions: 172
  • Paper Collected: 6/30/2018
  • Last Update: 8/26/2018