AutismKB 2.0

View CNVs/SVs


View by Evidence Type: Overlapping/Recurrent 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
AutCNV0000712 9 9q21 loss 2 1 Overlapping/Recurrent CNVs; Pagnamenta, 2011
AutCNV0000719 16 16p11.2 gain 2 - Overlapping/Recurrent CNVs; Bremer, 2011
AutCNV0000722 22 22q11.21 gain 1 - Overlapping/Recurrent CNVs; Bremer, 2011
AutCNV0000723 22 22q11.21-q11.22 loss 1 - Overlapping/Recurrent CNVs; de novo CNVs; Bremer, 2011
AutCNV0003116 7 7p21.3 gain 2 - Overlapping/Recurrent CNVs; Cukier, 2011
AutCNV0003117 15 15q24.1 gain 2 2 Overlapping/Recurrent CNVs; Cukier, 2011
AutCNV0003124 1 1q21.1 gain 3 - Overlapping/Recurrent CNVs; Gai, 2011
AutCNV0003129 1 1q32.2 gain 2 - Overlapping/Recurrent CNVs; Gai, 2011
AutCNV0003137 2 2p16.3 loss 2 - Overlapping/Recurrent CNVs; Gai, 2011
AutCNV0003138 2 2p16.3 gain 2 - Overlapping/Recurrent CNVs; Gai, 2011
AutCNV0003145 2 2p16.1 loss 2 - Overlapping/Recurrent CNVs; Gai, 2011
AutCNV0003156 2 2q36.2 loss 2 - Overlapping/Recurrent CNVs; Gai, 2011
AutCNV0003172 3 3p24.2 loss 2 - Overlapping/Recurrent CNVs; Gai, 2011
AutCNV0003185 3 3q29 gain 2 - Overlapping/Recurrent CNVs; Gai, 2011
AutCNV0003188 4 4p15.33 loss 2 - Overlapping/Recurrent CNVs; Gai, 2011
AutCNV0003193 4 4q13.3 gain 2 - Overlapping/Recurrent CNVs; Gai, 2011
AutCNV0003197 4 4q32.3 loss 2 - Overlapping/Recurrent CNVs; Gai, 2011
AutCNV0003200 4 4q34.1 loss 2 - Overlapping/Recurrent CNVs; Gai, 2011
AutCNV0003205 5 5p14.3 loss 2 - Overlapping/Recurrent CNVs; Gai, 2011
AutCNV0003219 5 5q23.1 loss 2 - Overlapping/Recurrent CNVs; Gai, 2011
AutCNV0003227 6 6q22.31 loss 2 - Overlapping/Recurrent CNVs; Gai, 2011
AutCNV0003234 6 6q26 loss 2 - Overlapping/Recurrent CNVs; Gai, 2011
AutCNV0003236 6 6q26 gain 2 - Overlapping/Recurrent CNVs; Gai, 2011
AutCNV0003240 7 7p22.2 gain 2 - Overlapping/Recurrent CNVs; Gai, 2011
AutCNV0003241 7 7p22.2 loss 2 - Overlapping/Recurrent CNVs; Gai, 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