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
AutCNV0000051 1 1q21.1 gain 1 - Overlapping/Recurrent CNVs; Szatmari, 2007
AutCNV0000052 1 1q23.3 gain 1 - Overlapping/Recurrent CNVs; Szatmari, 2007
AutCNV0000053 1 1q23.3 gain 1 - Overlapping/Recurrent CNVs; Szatmari, 2007
AutCNV0000054 2 2p25.3 gain 2 - Overlapping/Recurrent CNVs; Szatmari, 2007
AutCNV0000055 2 2q32.1 gain 1 - Overlapping/Recurrent CNVs; Szatmari, 2007
AutCNV0000056 2 2q32.1 gain 1 - Overlapping/Recurrent CNVs; Szatmari, 2007
AutCNV0000057 2 2q32.1 gain 1 - Overlapping/Recurrent CNVs; Szatmari, 2007
AutCNV0000058 3 3q25.31-25.32 gain 1 - Overlapping/Recurrent CNVs; Szatmari, 2007
AutCNV0000059 3 3q25.31-25.32 gain 1 - Overlapping/Recurrent CNVs; Szatmari, 2007
AutCNV0000060 4 4q34.3-35.2 gain 1 - Overlapping/Recurrent CNVs; Szatmari, 2007
AutCNV0000061 4 4q35.1-35.2 gain 2 - Overlapping/Recurrent CNVs; Szatmari, 2007
AutCNV0000062 4 4q35.2 gain 1 - Overlapping/Recurrent CNVs; Szatmari, 2007
AutCNV0000063 4 4q35.2 loss 1 - Overlapping/Recurrent CNVs; Szatmari, 2007
AutCNV0000064 4 4q35.2 loss 1 - Overlapping/Recurrent CNVs; Szatmari, 2007
AutCNV0000065 4 4q35.2 gain 1 - Overlapping/Recurrent CNVs; Szatmari, 2007
AutCNV0000066 4 4q35.2 loss 1 - Overlapping/Recurrent CNVs; Szatmari, 2007
AutCNV0000067 4 4q35.2 loss 1 - Overlapping/Recurrent CNVs; Szatmari, 2007
AutCNV0000068 4 4q35.2 loss 1 - Overlapping/Recurrent CNVs; Szatmari, 2007
AutCNV0000069 4 4q35.2 gain 1 - Overlapping/Recurrent CNVs; Szatmari, 2007
AutCNV0000070 5 5p13.1 gain 1 - Overlapping/Recurrent CNVs; Szatmari, 2007
AutCNV0000071 6 6p22.3-25.2 loss 1 - Overlapping/Recurrent CNVs; Szatmari, 2007
AutCNV0000072 6 6q14.1 gain 1 - Overlapping/Recurrent CNVs; Szatmari, 2007
AutCNV0000073 6 6q14.1 gain 1 - Overlapping/Recurrent CNVs; Szatmari, 2007
AutCNV0000074 6 6q16.3 gain 1 - Overlapping/Recurrent CNVs; Szatmari, 2007
AutCNV0000075 6 6q16.3-21 gain 1 - Overlapping/Recurrent 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