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:1 ( 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
AutCNV0000126 1 1p36 loss 1 - de novo CNVs; Jacquemont, 2006
AutCNV0000136 1 1p21.3 loss 1 - de novo CNVs; Marshall, 2008
AutCNV0000332 1 1p36 loss 3 - CNVs Not Present In Control; de novo CNVs; Bucan, 2009
AutCNV0000333 1 1q44 loss 3 - CNVs Not Present In Control; de novo CNVs; Bucan, 2009
AutCNV0000390 1 1q21.1 loss 2 - Overlapping/Recurrent CNVs; de novo CNVs; Mefford, 2008
AutCNV0000728 1 1q25.3-q31.1 loss 1 - de novo CNVs; Bremer, 2011
AutCNV0000970 1 1p36.13 loss 1 - de novo CNVs; Pinto, 2010
AutCNV0001172 1 1p36.13 loss 1 - de novo CNVs; Pinto, 2010
AutCNV0001173 1 1p36.13 loss 1 - de novo CNVs; Pinto, 2010
AutCNV0001389 1 1p36.13 loss 1 - de novo CNVs; Pinto, 2010
AutCNV0001479 1 1p34.1 gain 1 - de novo CNVs; Pinto, 2010
AutCNV0001486 1 1q21.1 gain 1 - de novo CNVs; Pinto, 2010
AutCNV0001493 1 1p36.13 loss 1 - de novo CNVs; Pinto, 2010
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
AutCNV0004545 1 1q21.3 Loss 1 - de novo CNVs; Patircia, 2011
AutCNV0004546 1 1q31.3 Gain 1 - de novo CNVs; Patircia, 2011
AutCNV0004547 1 1q31.3 Loss 1 - de novo CNVs; Patircia, 2011
AutCNV0004548 1 1q31.3 Gain 1 - de novo CNVs; Patircia, 2011
AutCNV0004580 1 1q21.3 Loss 1 - de novo CNVs; Patircia, 2011
AutCNV0004671 1 1q42.1 gain - - CNVs Only Present In Patients; de novo CNVs; Kousoulidou L, 2013
AutCNV0004837 1 1q24.3 loss - - CNVs Only Present In Patients; de novo CNVs; Asadollahi R, 2014
AutCNV0004973 1 1q21.1 - - - CNVs Only Present In Patients; Significant Enriched CNVs; de novo CNVs; Sanders SJ, 2015
AutCNV0005139 1 1q42.3 gain - - CNVs Only Present In Patients; de novo CNVs; Soueid J, 2016

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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