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:2 ( 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
AutCNV0005021 2 2p16.3 loss - - CNVs Only Present In Patients; Eriksson MA, 2015
AutCNV0005022 2 2p16.3 loss - - CNVs Only Present In Patients; Eriksson MA, 2015
AutCNV0005023 2 2q21.1 loss - - CNVs Only Present In Patients; Eriksson MA, 2015
AutCNV0005043 2 2q33.3q34 loss - - CNVs Only Present In Patients; de novo CNVs; Jang DH, 2015
AutCNV0005146 2 2p16.3 loss - - CNVs Only Present In Patients; Soueid J, 2016
AutCNV0005148 2 20p11.23 loss - - CNVs Only Present In Patients; Soueid J, 2016
AutCNV0005602 2 2p25.3 gain 2 - CNVs Only Present In Patients; de novo CNVs; Meyer KJ, 2012
AutCNV0005622 2 2 gain - - CNVs Only Present In Patients; Mercati O, 2017
AutCNV0005691 2 - Loss - - CNVs Only Present In Patients; de novo CNVs; Yuen RK, 2016
AutCNV0005692 2 - Loss - - CNVs Only Present In Patients; de novo CNVs; Yuen RK, 2016
AutCNV0005693 2 - Loss - - CNVs Only Present In Patients; de novo CNVs; Yuen RK, 2016
AutCNV0005696 2 - Loss - - CNVs Only Present In Patients; de novo CNVs; Yuen RK, 2016
AutCNV0005702 2 - Loss - - CNVs Only Present In Patients; de novo CNVs; C Yuen RK, 2017
AutCNV0005703 2 - Loss - - CNVs Only Present In Patients; de novo CNVs; C Yuen RK, 2017
AutCNV0005704 2 - Loss - - CNVs Only Present In Patients; C Yuen RK, 2017
AutCNV0005705 2 - Loss - - CNVs Only Present In Patients; C Yuen RK, 2017
AutCNV0005706 2 - Loss - - CNVs Only Present In Patients; C Yuen RK, 2017
AutCNV0005707 2 - Loss - - CNVs Only Present In Patients; C Yuen RK, 2017
AutCNV0005708 2 - Loss - - CNVs Only Present In Patients; C Yuen RK, 2017
AutCNV0005709 2 - Loss - - CNVs Only Present In Patients; C Yuen RK, 2017
AutCNV0005755 2 - Loss - - CNVs Only Present In Patients; de novo CNVs; C Yuen RK, 2017

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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