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: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
AutCNV0000146 12 12q24.21-24.33 gain 1 - de novo CNVs; Marshall, 2008
AutCNV0000147 12 12q12 loss 1 - de novo CNVs; Marshall, 2008
AutCNV0000708 12 12p11.1-12.1 loss 1 - de novo CNVs; Soysal, 2011
AutCNV0000823 12 12q13.2-14.1 gain 1 - de novo CNVs; Pinto, 2010
AutCNV0003830 12 12p13.32 loss 1 - de novo CNVs; Levy, 2011
AutCNV0003831 12 12p12.3-p11.22 loss 1 - de novo CNVs; Levy, 2011
AutCNV0003832 12 12q24.31 loss 1 - de novo CNVs; Levy, 2011
AutCNV0004301 12 12q13.2-q14.1 gain 1 - de novo CNVs; Sanders, 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
AutCNV0004839 12 12q24.23 gain - - CNVs Only Present In Patients; de novo CNVs; Asadollahi R, 2014
AutCNV0004842 12 12q24.33 loss - - CNVs Only Present In Patients; de novo CNVs; Asadollahi R, 2014
AutCNV0004846 12 12q24.21 loss - - CNVs Only Present In Patients; de novo CNVs; Asadollahi R, 2014
AutCNV0005652 12 12 - - - de novo CNVs; Krumm N, 2015
AutCNV0005912 12 12q12 loss - - de novo CNVs; Brandler WM, 2018
AutCNV0005913 12 12q21.2 loss - - de novo CNVs; Brandler WM, 2018
AutCNV0005914 12 12q22 loss - - de novo CNVs; Brandler WM, 2018
AutCNV0005915 12 12q24.11 loss - - de novo CNVs; Brandler WM, 2018
AutCNV0005916 12 12q24.22 loss - - de novo CNVs; Brandler WM, 2018

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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