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:12 ( 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
AutCNV0002796 12 12q21.1 loss 1 - Pinto, 2010
AutCNV0002797 12 12q21.31 loss 1 - Pinto, 2010
AutCNV0002798 12 12q21.31 loss 1 - Pinto, 2010
AutCNV0002799 12 12q21.31 loss 1 - Pinto, 2010
AutCNV0002800 12 12q21.31 gain 1 - Pinto, 2010
AutCNV0002801 12 12q21.31 loss 1 - Pinto, 2010
AutCNV0002802 12 12q21.31 loss 1 - Pinto, 2010
AutCNV0002803 12 12q23.1 loss 1 - Pinto, 2010
AutCNV0002804 12 12q24.11 gain 1 - Pinto, 2010
AutCNV0002805 12 12q24.12 gain 1 - Pinto, 2010
AutCNV0002806 12 12q24.12 gain 1 - Pinto, 2010
AutCNV0002807 12 12q24.12 gain 1 - Pinto, 2010
AutCNV0002808 12 12q24.32 gain 1 - Pinto, 2010
AutCNV0003105 12 12p13.31 loss 1 - Pinto, 2010
AutCNV0003106 12 12q24.33 gain 1 - Pinto, 2010
AutCNV0003339 12 12p12.3 loss 1 - CNVs Only Present In Patients; Gai, 2011
AutCNV0003340 12 12p12.3 loss 1 - CNVs Only Present In Patients; Gai, 2011
AutCNV0003341 12 12p12.3 loss 1 - CNVs Only Present In Patients; Gai, 2011
AutCNV0003342 12 12p12.1 loss 1 - CNVs Only Present In Patients; Gai, 2011
AutCNV0003343 12 12q14.1 loss 2 - Overlapping/Recurrent CNVs; Gai, 2011
AutCNV0003344 12 12q21.2 loss 1 - CNVs Only Present In Patients; Gai, 2011
AutCNV0003345 12 12q21.2 loss 1 - CNVs Only Present In Patients; Gai, 2011
AutCNV0003346 12 12q21.31 loss 1 - Gai, 2011
AutCNV0003347 12 12q21.33 loss 1 - CNVs Only Present In Patients; Gai, 2011
AutCNV0003348 12 12q23.1 loss 2 - Overlapping/Recurrent CNVs; Gai, 2011

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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