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  )


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Notes: ACRD: Autism Chromosome Rearrangement Database
CNV Name Chr Band Gain/Loss Number of CNVs Evidence Type Reference
Case Control
AutCNV0000032 1 1q21.1 gain 3 - Overlapping/Recurrent CNVs; Szatmari, 2007
AutCNV0000049 1 1p31.3-32.1 gain 1 - Overlapping/Recurrent CNVs; Szatmari, 2007
AutCNV0000050 1 1p31.3-32.1 gain 1 - Overlapping/Recurrent CNVs; Szatmari, 2007
AutCNV0000051 1 1q21.1 gain 1 - Overlapping/Recurrent CNVs; Szatmari, 2007
AutCNV0000052 1 1q23.3 gain 1 - Overlapping/Recurrent CNVs; Szatmari, 2007
AutCNV0000053 1 1q23.3 gain 1 - Overlapping/Recurrent CNVs; Szatmari, 2007
AutCNV0000126 1 1p36 loss 1 - de novo CNVs; Jacquemont, 2006
AutCNV0000127 1 1q31 gain 1 - CNVs Only Present In Patients; Jacquemont, 2006
AutCNV0000136 1 1p21.3 loss 1 - de novo CNVs; Marshall, 2008
AutCNV0000306 1 1q25.1 gain 6 0 Overlapping/Recurrent CNVs; Glessner, 2009
AutCNV0000315 1 1p35.1 loss 1 - CNVs Only Present In Patients; Cusco, 2008
AutCNV0000316 1 1q41 loss 1 - CNVs Only Present In Patients; Cusco, 2008
AutCNV0000331 1 1q23.3-24.2 loss 1 - CNVs Only Present In Patients; Monica, 2007
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
AutCNV0000346 1 1p36.33 - - - CNVs Only Present In Patients; Significant Enriched CNVs; Zwaag, 2009
AutCNV0000347 1 1p36.33 - - - CNVs Only Present In Patients; Significant Enriched CNVs; Zwaag, 2009
AutCNV0000348 1 1p32.3 - - - CNVs Only Present In Patients; Significant Enriched CNVs; Zwaag, 2009
AutCNV0000349 1 1q21.3 - - - CNVs Only Present In Patients; Significant Enriched CNVs; Zwaag, 2009
AutCNV0000390 1 1q21.1 loss 2 - Overlapping/Recurrent CNVs; de novo CNVs; Mefford, 2008
AutCNV0000400 1 1q42.2 gain 2 1577 CNVs Not Present In Control; Crepel, 2009
AutCNV0000401 1 1q21-22 Gain 1 - Overlapping/Recurrent CNVs; Gregory, 2009
AutCNV0000402 1 1q44 Gain 1 - Overlapping/Recurrent CNVs; Gregory, 2009
AutCNV0000441 1 1p36.32-36.33 Loss 2 - Overlapping/Recurrent CNVs; Gregory, 2009
AutCNV0000442 1 1p36.32-36.33 Gain 1 - Overlapping/Recurrent CNVs; Gregory, 2009

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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