AutismKB 2.0

View CNVs/SVs


View by Evidence Type: de novo 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:2 ( 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
AutCNV0000001 2 2q24.2 loss 1 - de novo CNVs; Sebat, 2007
AutCNV0000002 2 2q37.2-q37.3 loss 1 - de novo CNVs; Sebat, 2007
AutCNV0000003 2 2q37.3 loss 1 - de novo CNVs; Sebat, 2007
AutCNV0000137 2 2q32.1 loss 1 - de novo CNVs; Marshall, 2008
AutCNV0000165 2 2q32.1 loss 1 - Other; de novo CNVs; Marshall, 2008
AutCNV0000252 2 2p16-15.1 loss 1 - de novo CNVs; Rajcan-Separovic, 2007
AutCNV0000334 2 2p16 loss 5 - CNVs Not Present In Control; de novo CNVs; Bucan, 2009
AutCNV0000335 2 2q23.3 loss 4 - CNVs Not Present In Control; de novo CNVs; Bucan, 2009
AutCNV0000391 2 2p25.2 loss 1 - de novo CNVs; Lo-Castro, 2009
AutCNV0000816 2 2p16.3 gain 1 - de novo CNVs; Pinto, 2010
AutCNV0000827 2 2p16.3 loss 1 - de novo CNVs; Pinto, 2010
AutCNV0000828 2 2p16.3 loss 1 - de novo CNVs; Pinto, 2010
AutCNV0000829 2 2p16.3 loss 1 - de novo CNVs; Pinto, 2010
AutCNV0000830 2 2q31.2 loss 1 - de novo CNVs; Pinto, 2010
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
AutCNV0004201 2 2p16.3 gain 1 - Overlapping/Recurrent CNVs; de novo CNVs; Sanders, 2011
AutCNV0004202 2 2p16.3 loss 1 - Overlapping/Recurrent CNVs; de novo CNVs; Sanders, 2011
AutCNV0004204 2 2p16.3 loss 1 - Overlapping/Recurrent CNVs; de novo CNVs; Sanders, 2011
AutCNV0004205 2 2p16.3 loss 1 - Overlapping/Recurrent CNVs; de novo CNVs; Sanders, 2011
AutCNV0004211 2 2q31.2 loss 1 - de novo CNVs; Sanders, 2011
AutCNV0004549 2 2q13 Loss 1 - de novo CNVs; Patircia, 2011
AutCNV0004607 2 2p16.1 Gain 1 - de novo CNVs; van Daalen, 2011
AutCNV0004676 2 2q37.1 loss - - CNVs Only Present In Patients; de novo CNVs; Gazzellone MJ, 2014

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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