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
AutCNV0003777 21 21q22.11-22.12 gain 1 - CNVs Only Present In Patients; Gai, 2011
AutCNV0003778 22 22q11.22 loss 1 - CNVs Only Present In Patients; Gai, 2011
AutCNV0003779 22 22q12.3 gain 1 - CNVs Only Present In Patients; Gai, 2011
AutCNV0003780 22 22q12.3 loss 1 - CNVs Only Present In Patients; Gai, 2011
AutCNV0003781 22 22q13.2 loss 1 - CNVs Only Present In Patients; Gai, 2011
AutCNV0003782 22 22q13.2 loss 1 - CNVs Only Present In Patients; Gai, 2011
AutCNV0003783 22 22q13.32-13.33 gain 1 - CNVs Only Present In Patients; Gai, 2011
AutCNV0003784 22 22q13.32-13.33 gain 1 - CNVs Only Present In Patients; Gai, 2011
AutCNV0003785 22 22q13.32-13.33 gain 1 - CNVs Only Present In Patients; Gai, 2011
AutCNV0003786 22 22q13.33 loss 3 - Overlapping/Recurrent CNVs; Gai, 2011
AutCNV0003787 X Xp22.31 gain 1 - CNVs Only Present In Patients; Gai, 2011
AutCNV0003788 X Xp22.11 loss 1 - CNVs Only Present In Patients; Gai, 2011
AutCNV0003789 X Xp22.11 loss 1 - CNVs Only Present In Patients; Gai, 2011
AutCNV0003790 X Xp22.11 gain 1 - CNVs Only Present In Patients; Gai, 2011
AutCNV0003791 X Xp22.11 gain 1 - CNVs Only Present In Patients; Gai, 2011
AutCNV0003792 X Xq24-25 loss 1 - CNVs Only Present In Patients; Gai, 2011
AutCNV0003793 X Xq27.2 loss 1 - CNVs Only Present In Patients; Gai, 2011
AutCNV0003794 X Xq27.2 loss 4 - Overlapping/Recurrent CNVs; Gai, 2011
AutCNV0003795 7 7q31.31 loss 1 - CNVs Only Present In Patients; Okamoto, 2011
AutCNV0003796 1 1p35.2-p34.3 gain 1 - de novo CNVs; Levy, 2011
AutCNV0003797 1 1q43 gain 1 - de novo CNVs; Levy, 2011
AutCNV0003798 1 1q43 gain 1 - de novo CNVs; Levy, 2011
AutCNV0003799 2 2p16.3 loss 1 - de novo CNVs; Levy, 2011
AutCNV0003800 2 2p16.3 loss 1 - de novo CNVs; Levy, 2011
AutCNV0003801 2 2q13 loss 1 - de novo CNVs; Levy, 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