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:20 ( 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
AutCNV0000013 20 20p13 loss 1 - de novo CNVs; Sebat, 2007
AutCNV0000014 20 20p13 loss 1 - de novo CNVs; Sebat, 2007
AutCNV0000155 20 20q13.33 gain 1 - de novo CNVs; Marshall, 2008
AutCNV0000241 20 20p12.3 loss 1 - CNVs Only Present In Patients; Christian, 2008
AutCNV0000242 20 20q12 gain 1 - CNVs Only Present In Patients; Christian, 2008
AutCNV0000294 20 20pter-12.2 loss 1 - CNVs Only Present In Patients; Sauter, 2003
AutCNV0000295 20 20p11.22-11.23 loss 1 - CNVs Only Present In Patients; Michaelis, 1997
AutCNV0000650 20 20p12.1 Loss 1 - Overlapping/Recurrent CNVs; Gregory, 2009
AutCNV0000651 20 20p12.1 Loss 1 - Overlapping/Recurrent CNVs; Gregory, 2009
AutCNV0000652 20 20q13.12 Gain 1 - Overlapping/Recurrent CNVs; Gregory, 2009
AutCNV0000653 20 20q13.12 Gain 1 - Overlapping/Recurrent CNVs; Gregory, 2009
AutCNV0000696 20 20q13.33 Loss null null CNVs Not Present In Control; Berkel, 2010
AutCNV0000758 20 20p12.1 loss 1 - Pinto, 2010
AutCNV0000764 20 20p12.1 loss 1 - Pinto, 2010
AutCNV0000796 20 20p12.1 loss 1 - Pinto, 2010
AutCNV0000968 20 20p12.1 loss 1 - de novo CNVs; Pinto, 2010
AutCNV0001159 20 20p12.1 gain 1 - Pinto, 2010
AutCNV0001160 20 20q13.12-13.13 gain 1 - Pinto, 2010
AutCNV0001364 20 20p12.1 loss 1 - Pinto, 2010
AutCNV0001365 20 20q12 loss 1 - Pinto, 2010
AutCNV0001366 20 20q13.2 gain 1 - Pinto, 2010
AutCNV0001367 20 20q13.33 loss 1 - Pinto, 2010
AutCNV0001406 20 20p12.2 loss 1 - Pinto, 2010
AutCNV0001412 20 20q13.13 loss 1 - Pinto, 2010
AutCNV0001466 20 20q13.33 gain 1 - Pinto, 2010

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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