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
AutCNV0000097 12 12p11.23 gain 1 - Overlapping/Recurrent CNVs; Szatmari, 2007
AutCNV0000098 12 12q11-12 gain 1 - Overlapping/Recurrent CNVs; Szatmari, 2007
AutCNV0000099 12 12q12 loss 1 - Overlapping/Recurrent CNVs; Szatmari, 2007
AutCNV0000100 12 12q12 loss 1 - Overlapping/Recurrent CNVs; Szatmari, 2007
AutCNV0000101 12 12q12 loss 1 - Overlapping/Recurrent CNVs; Szatmari, 2007
AutCNV0000102 12 12q12-24.33 gain 1 - Overlapping/Recurrent CNVs; Szatmari, 2007
AutCNV0000103 12 12q24.33 gain 1 - Overlapping/Recurrent CNVs; Szatmari, 2007
AutCNV0000146 12 12q24.21-24.33 gain 1 - de novo CNVs; Marshall, 2008
AutCNV0000147 12 12q12 loss 1 - de novo CNVs; Marshall, 2008
AutCNV0000221 12 12p11.1 gain 1 - CNVs Only Present In Patients; Christian, 2008
AutCNV0000363 12 12p13.31 - - - CNVs Only Present In Patients; Significant Enriched CNVs; Zwaag, 2009
AutCNV0000364 12 12p11.21 - - - CNVs Only Present In Patients; Significant Enriched CNVs; Zwaag, 2009
AutCNV0000365 12 12q24.33 - - - CNVs Only Present In Patients; Significant Enriched CNVs; Zwaag, 2009
AutCNV0000366 12 12q24.33 - - - CNVs Only Present In Patients; Significant Enriched CNVs; Zwaag, 2009
AutCNV0000565 12 12p11.21 Gain 1 - Overlapping/Recurrent CNVs; Gregory, 2009
AutCNV0000566 12 12p11.21 Loss 1 - Overlapping/Recurrent CNVs; Gregory, 2009
AutCNV0000567 12 12p11.21 Loss 1 - Overlapping/Recurrent CNVs; Gregory, 2009
AutCNV0000568 12 12p11.1-11.21 Gain 1 - Overlapping/Recurrent CNVs; Gregory, 2009
AutCNV0000689 12 12q21.2 Loss null null CNVs Only Present In Patients; CNVs Not Present In Control; Berkel, 2010
AutCNV0000708 12 12p11.1-12.1 loss 1 - de novo CNVs; Soysal, 2011
AutCNV0000744 12 12p13.32 gain 1 - Bremer, 2011
AutCNV0000745 12 12p13.31 loss 1 - Bremer, 2011
AutCNV0000823 12 12q13.2-14.1 gain 1 - de novo CNVs; Pinto, 2010
AutCNV0000863 12 12p13.33 loss 1 - Pinto, 2010
AutCNV0000864 12 12q21.31 loss 1 - Pinto, 2010

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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