AutismKB 2.0

View CNVs/SVs


View by Evidence Type: All ( 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
AutCNV0003102 9 9q34.3 gain 1 - Pinto, 2010
AutCNV0003103 10 10p15.3 gain 1 - Pinto, 2010
AutCNV0003104 11 11p11.12-11.2 loss 1 - Pinto, 2010
AutCNV0003105 12 12p13.31 loss 1 - Pinto, 2010
AutCNV0003106 12 12q24.33 gain 1 - Pinto, 2010
AutCNV0003107 13 13q34 gain 1 - Pinto, 2010
AutCNV0003108 14 14q32.33 gain 1 - Pinto, 2010
AutCNV0003109 15 15q26.3 gain 1 - Pinto, 2010
AutCNV0003110 16 16p12.1 loss 1 - Pinto, 2010
AutCNV0003111 16 16p11.2 loss 1 - Pinto, 2010
AutCNV0003112 18 18q23 gain 1 - Pinto, 2010
AutCNV0003113 19 19q13.2 loss 1 - Pinto, 2010
AutCNV0003114 21 21q22.3 gain 1 - Pinto, 2010
AutCNV0003115 22 22q13.2 gain 1 - Pinto, 2010
AutCNV0003116 7 7p21.3 gain 2 - Overlapping/Recurrent CNVs; Cukier, 2011
AutCNV0003117 15 15q24.1 gain 2 2 Overlapping/Recurrent CNVs; Cukier, 2011
AutCNV0003118 X Xp11.22-p11.23 gain 1 - CNVs Only Present In Patients; Chung, 2011
AutCNV0003119 1 1p36.32-36.33 loss 1 - CNVs Only Present In Patients; Gai, 2011
AutCNV0003120 1 1p36.32 loss 1 - CNVs Only Present In Patients; Gai, 2011
AutCNV0003121 1 1p32.3 gain 1 - CNVs Only Present In Patients; Gai, 2011
AutCNV0003122 1 1p21.1 gain 1 - CNVs Only Present In Patients; Gai, 2011
AutCNV0003123 1 1q21.1 gain 1 - CNVs Only Present In Patients; Gai, 2011
AutCNV0003124 1 1q21.1 gain 3 - Overlapping/Recurrent CNVs; Gai, 2011
AutCNV0003125 1 1q24.2 loss 1 - CNVs Only Present In Patients; Gai, 2011
AutCNV0003126 1 1q31.1 loss 1 - CNVs Only Present In Patients; Gai, 2011

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Simple Query:


  (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