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
AutCNV0000727 X Xq28 gain 1 - CNVs Only Present In Patients; Bremer, 2011
AutCNV0000728 1 1q25.3-q31.1 loss 1 - de novo CNVs; Bremer, 2011
AutCNV0000729 3 3p25.3-pter gain 1 - CNVs Only Present In Patients; Bremer, 2011
AutCNV0000730 7 7p22.1 gain 1 - de novo CNVs; Bremer, 2011
AutCNV0000731 9 9q13-q21.31 loss 1 - de novo CNVs; Bremer, 2011
AutCNV0000732 17 17p13.2 loss 1 - CNVs Only Present In Patients; Bremer, 2011
AutCNV0000733 18 18q22.2-qter loss 1 - de novo CNVs; Bremer, 2011
AutCNV0000734 3 3p26.3 loss 1 - Bremer, 2011
AutCNV0000735 7 7q21.13 gain 1 - Bremer, 2011
AutCNV0000736 7 7q36.2 loss 1 - Bremer, 2011
AutCNV0000737 10 10q11.21 gain 1 - Bremer, 2011
AutCNV0000738 10 10q26.3 gain 1 - Bremer, 2011
AutCNV0000739 15 15q11.2 gain 1 - Bremer, 2011
AutCNV0000740 15 15q11.2 loss 1 - Bremer, 2011
AutCNV0000741 16 16p13.2 gain 1 - Bremer, 2011
AutCNV0000742 16 16p13.11 gain 1 - Bremer, 2011
AutCNV0000743 16 16p12.1 loss 1 - Bremer, 2011
AutCNV0000744 12 12p13.32 gain 1 - Bremer, 2011
AutCNV0000745 12 12p13.31 loss 1 - Bremer, 2011
AutCNV0000746 1 1p33 loss 1 - Bremer, 2011
AutCNV0000747 1 1q25.1 gain 1 - Bremer, 2011
AutCNV0000748 3 3p26.3 gain 1 - Bremer, 2011
AutCNV0000749 4 4q35.2 loss 1 - Pinto, 2010
AutCNV0000750 7 7p15.1 gain 1 - Pinto, 2010
AutCNV0000751 7 7q31.1 loss 1 - Pinto, 2010

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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