AutismKB 2.0

View CNVs/SVs


View by Evidence Type: CNVs Only Present In Patients ( 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
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
AutCNV0000689 12 12q21.2 Loss null null CNVs Only Present In Patients; CNVs Not Present In Control; Berkel, 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
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
AutCNV0003347 12 12q21.33 loss 1 - CNVs Only Present In Patients; Gai, 2011
AutCNV0003350 12 12q23.1-23.2 gain 1 - CNVs Only Present In Patients; Gai, 2011
AutCNV0003351 12 12q23.1-23.2 gain 1 - CNVs Only Present In Patients; Gai, 2011
AutCNV0003674 12 12p11.1 loss 1 - CNVs Only Present In Patients; Gai, 2011
AutCNV0003675 12 12q21.1 loss 1 - CNVs Only Present In Patients; Gai, 2011
AutCNV0003676 12 12q21.2 gain 1 - CNVs Only Present In Patients; Gai, 2011
AutCNV0003677 12 12q21.2 gain 1 - CNVs Only Present In Patients; Gai, 2011
AutCNV0003678 12 12q21.31 loss 1 - CNVs Only Present In Patients; Gai, 2011
AutCNV0003679 12 12q21.32 loss 1 - CNVs Only Present In Patients; Gai, 2011
AutCNV0003680 12 12q24.32 gain 1 - CNVs Only Present In Patients; Gai, 2011
AutCNV0003681 12 12q24.33 loss 1 - CNVs Only Present In Patients; Gai, 2011
AutCNV0003682 12 12q24.33 loss 1 - CNVs Only Present In Patients; Gai, 2011
AutCNV0003964 12 12p13.33 loss 1 - CNVs Only Present In Patients; Levy, 2011

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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