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:4 ( 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
AutCNV0001222 4 4q28.3 loss 1 - Pinto, 2010
AutCNV0001223 4 4q31.1 gain 1 - Pinto, 2010
AutCNV0001224 4 4q32.1 loss 1 - Pinto, 2010
AutCNV0001225 4 4q35.1 gain 1 - Pinto, 2010
AutCNV0001226 4 4q35.1 gain 1 - Pinto, 2010
AutCNV0001391 4 4q13.2 loss 1 - Pinto, 2010
AutCNV0001440 4 4p16.3 gain 1 - Pinto, 2010
AutCNV0001441 4 4p16.3 gain 1 - Pinto, 2010
AutCNV0001442 4 4p16.3 gain 1 - Pinto, 2010
AutCNV0001492 4 4q21.22 loss 1 - de novo CNVs; Pinto, 2010
AutCNV0001518 4 4q35.1 gain 1 - Pinto, 2010
AutCNV0001530 4 4q13.1 loss 1 - Pinto, 2010
AutCNV0001531 4 4q13.1 loss 1 - Pinto, 2010
AutCNV0001693 4 4p16.3 gain 1 - Pinto, 2010
AutCNV0001694 4 4p16.3 loss 1 - Pinto, 2010
AutCNV0001695 4 4p16.1 loss 1 - Pinto, 2010
AutCNV0001696 4 4p15.31 loss 1 - Pinto, 2010
AutCNV0001697 4 4p15.31 loss 1 - Pinto, 2010
AutCNV0001698 4 4p15.1 loss 1 - Pinto, 2010
AutCNV0001699 4 4p14 gain 1 - Pinto, 2010
AutCNV0001700 4 4p14 gain 1 - Pinto, 2010
AutCNV0001701 4 4p14 gain 1 - Pinto, 2010
AutCNV0001702 4 4q12 loss 1 - Pinto, 2010
AutCNV0001703 4 4q12 gain 1 - Pinto, 2010
AutCNV0001704 4 4q12 gain 1 - Pinto, 2010

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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