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
AutCNV0004130 12 12q13.13 gain 1 1 CNVs Only Present In Patients; Levy, 2011
AutCNV0004131 12 12q21.31 loss 1 1 CNVs Only Present In Patients; Levy, 2011
AutCNV0004132 12 12q24.32 gain 1 1 CNVs Only Present In Patients; Levy, 2011
AutCNV0004298 12 12p13.2 loss 1 - Overlapping/Recurrent CNVs; Sanders, 2011
AutCNV0004299 12 12p11.22-p12.3 loss 1 - CNVs Only Present In Patients; Sanders, 2011
AutCNV0004300 12 12q12 loss 1 - CNVs Only Present In Patients; Sanders, 2011
AutCNV0004301 12 12q13.2-q14.1 gain 1 - de novo CNVs; Sanders, 2011
AutCNV0004302 12 12q23.1 loss 1 - CNVs Only Present In Patients; Sanders, 2011
AutCNV0004303 12 12q24.21-q24.33 gain 1 - Overlapping/Recurrent CNVs; Sanders, 2011
AutCNV0004304 12 12q24.31 gain 1 - Overlapping/Recurrent CNVs; Sanders, 2011
AutCNV0004405 12 12q12 loss 1 - Overlapping/Recurrent CNVs; Sanders, 2011
AutCNV0004433 12 12q14.1 gain - - CNVs Only Present In Patients; Nord, 2011
AutCNV0004439 12 12q24.31 gain - - CNVs Only Present In Patients; Nord, 2011
AutCNV0004447 12 12q24.22-24.23 gain - - CNVs Only Present In Patients; Nord, 2011
AutCNV0004463 12 12q21.1 loss - - CNVs Only Present In Patients; Nord, 2011
AutCNV0004485 12 12q14.3 loss - - CNVs Only Present In Patients; Nord, 2011
AutCNV0004558 12 12p11.21 Gain 1 - de novo CNVs; Patircia, 2011
AutCNV0004559 12 12p11.21 Loss 1 - de novo CNVs; Patircia, 2011
AutCNV0004560 12 12p11.21 Loss 1 - de novo CNVs; Patircia, 2011
AutCNV0004561 12 12p11.21 Loss 1 - de novo CNVs; Patircia, 2011
AutCNV0004606 12 12q15 Loss 1 - de novo CNVs; van Daalen, 2011
AutCNV0004639 12 12q14 loss 1 - CNVs Only Present In Patients; Lynch, 2011
AutCNV0004640 12 12q14 loss 1 - CNVs Only Present In Patients; Lynch, 2011
AutCNV0004657 12 - loss - - CNVs Only Present In Patients; Laplana M, 2014
AutCNV0004668 12 12p13.33 loss - - CNVs Only Present In Patients; Silva IM, 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