AutismKB 2.0

View CNVs/SVs


View by Evidence Type: Overlapping/Recurrent CNVs ( 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
AutCNV0000016 15 15q11-13 gain 5 - Overlapping/Recurrent CNVs; de novo CNVs; Weiss, 2008
AutCNV0000017 16 16p11.2 gain 11 7 Overlapping/Recurrent CNVs; de novo CNVs; Weiss, 2008
AutCNV0000018 16 16p11.2 loss 13 5 Overlapping/Recurrent CNVs; de novo CNVs; Weiss, 2008
AutCNV0000032 1 1q21.1 gain 3 - Overlapping/Recurrent CNVs; Szatmari, 2007
AutCNV0000033 2 2p11.2 loss 2 - Overlapping/Recurrent CNVs; Szatmari, 2007
AutCNV0000034 3 3p12.1 loss 2 - Overlapping/Recurrent CNVs; Szatmari, 2007
AutCNV0000035 4 4q35.2 loss 6 - Overlapping/Recurrent CNVs; Szatmari, 2007
AutCNV0000036 5 5p14.1 loss 3 - Overlapping/Recurrent CNVs; Szatmari, 2007
AutCNV0000037 5 5q13.3 loss 2 - Overlapping/Recurrent CNVs; Szatmari, 2007
AutCNV0000038 9 9p24.3 gain 2 - Overlapping/Recurrent CNVs; Szatmari, 2007
AutCNV0000039 9 9p13.1 gain 2 - Overlapping/Recurrent CNVs; Szatmari, 2007
AutCNV0000040 10 10q23.31-23.32 gain 2 - Overlapping/Recurrent CNVs; Szatmari, 2007
AutCNV0000041 11 11p14.3 gain 2 - Overlapping/Recurrent CNVs; Szatmari, 2007
AutCNV0000042 11 11p11.12 gain 2 - Overlapping/Recurrent CNVs; Szatmari, 2007
AutCNV0000043 11 11p11.12 loss 2 - Overlapping/Recurrent CNVs; Szatmari, 2007
AutCNV0000044 13 13q12.12 gain 2 - Overlapping/Recurrent CNVs; Szatmari, 2007
AutCNV0000045 14 14q11.2 gain 2 - Overlapping/Recurrent CNVs; Szatmari, 2007
AutCNV0000046 15 15q11.2-12 gain 6 - Overlapping/Recurrent CNVs; Szatmari, 2007
AutCNV0000047 18 18q11.2 gain 3 - Overlapping/Recurrent CNVs; Szatmari, 2007
AutCNV0000048 22 22q13.32-13.33 loss 2 - Overlapping/Recurrent CNVs; Szatmari, 2007
AutCNV0000049 1 1p31.3-32.1 gain 1 - Overlapping/Recurrent CNVs; Szatmari, 2007
AutCNV0000050 1 1p31.3-32.1 gain 1 - Overlapping/Recurrent CNVs; Szatmari, 2007
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

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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