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:All ( 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
AutCNV0000101 12 12q12 loss 1 - Overlapping/Recurrent CNVs; Szatmari, 2007
AutCNV0000102 12 12q12-24.33 gain 1 - Overlapping/Recurrent CNVs; Szatmari, 2007
AutCNV0000103 12 12q24.33 gain 1 - Overlapping/Recurrent CNVs; Szatmari, 2007
AutCNV0000104 13 13q14.2 gain 2 - Overlapping/Recurrent CNVs; Szatmari, 2007
AutCNV0000105 13 13q21.31-21.32 gain 1 - Overlapping/Recurrent CNVs; Szatmari, 2007
AutCNV0000106 13 13q21.32 gain 1 - Overlapping/Recurrent CNVs; Szatmari, 2007
AutCNV0000107 15 15q11.2 gain 1 - Overlapping/Recurrent CNVs; Szatmari, 2007
AutCNV0000108 15 15q11.2 gain 1 - Overlapping/Recurrent CNVs; Szatmari, 2007
AutCNV0000109 15 15q12 gain 1 - Overlapping/Recurrent CNVs; Szatmari, 2007
AutCNV0000110 15 15q21.2-26.3 gain 1 - Overlapping/Recurrent CNVs; Szatmari, 2007
AutCNV0000111 15 15q22.2 gain 1 - Overlapping/Recurrent CNVs; Szatmari, 2007
AutCNV0000112 15 15q24.2-26.3 gain 1 - Overlapping/Recurrent CNVs; Szatmari, 2007
AutCNV0000113 16 16p13.2 gain 1 - Overlapping/Recurrent CNVs; Szatmari, 2007
AutCNV0000114 16 16p13.2 gain 1 - Overlapping/Recurrent CNVs; Szatmari, 2007
AutCNV0000115 16 16q13 gain 1 - Overlapping/Recurrent CNVs; Szatmari, 2007
AutCNV0000116 16 16q21 loss 2 - Overlapping/Recurrent CNVs; Szatmari, 2007
AutCNV0000117 17 17p12 gain 1 - Overlapping/Recurrent CNVs; Szatmari, 2007
AutCNV0000118 18 18p11.21-11.22 gain 2 - Overlapping/Recurrent CNVs; Szatmari, 2007
AutCNV0000119 4 4q35.2 loss 2 - de novo CNVs; Szatmari, 2007
AutCNV0000120 7 7q31.32 loss 1 - de novo CNVs; Szatmari, 2007
AutCNV0000121 8 8p23.2 gain 1 - de novo CNVs; Szatmari, 2007
AutCNV0000122 9 9q21.11-21.12 loss 1 - de novo CNVs; Szatmari, 2007
AutCNV0000123 13 13q14.2 gain 2 - de novo CNVs; Szatmari, 2007
AutCNV0000124 16 16q21 loss 2 - de novo CNVs; Szatmari, 2007
AutCNV0000125 17 17p12 gain 1 - de novo CNVs; Szatmari, 2007

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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