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
AutCNV0003349 12 12q23.1 loss 3 - Overlapping/Recurrent CNVs; 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
AutCNV0003672 12 12p11.22 loss 2 - Overlapping/Recurrent CNVs; Gai, 2011
AutCNV0003673 12 12p11.1 gain 2 - Overlapping/Recurrent CNVs; 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
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
AutCNV0003964 12 12p13.33 loss 1 - CNVs Only Present In Patients; Levy, 2011
AutCNV0003965 12 12p13.31 gain 1 - CNVs Only Present In Patients; Levy, 2011
AutCNV0003966 12 12p12.2 loss 1 - CNVs Only Present In Patients; Levy, 2011
AutCNV0003967 12 12p11.1 gain 1 - CNVs Only Present In Patients; Levy, 2011
AutCNV0003968 12 12q23.3 gain 1 - CNVs Only Present In Patients; Levy, 2011
AutCNV0004127 12 12p13.33 gain 1 1 CNVs Only Present In Patients; Levy, 2011
AutCNV0004128 12 12q12 gain 1 1 CNVs Only Present In Patients; Levy, 2011
AutCNV0004129 12 12q12 loss 1 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