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:5 ( 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
AutCNV0000036 5 5p14.1 loss 3 - Overlapping/Recurrent CNVs; Szatmari, 2007
AutCNV0000037 5 5q13.3 loss 2 - Overlapping/Recurrent CNVs; Szatmari, 2007
AutCNV0000070 5 5p13.1 gain 1 - Overlapping/Recurrent CNVs; Szatmari, 2007
AutCNV0000485 5 5q31.3 Loss 1 - Overlapping/Recurrent CNVs; Gregory, 2009
AutCNV0000486 5 5q35.3 Loss 1 - Overlapping/Recurrent CNVs; Gregory, 2009
AutCNV0000661 5 5q14.3 loss 1 - Overlapping/Recurrent CNVs; Novara, 2010
AutCNV0000662 5 5q14.3 loss 1 - Overlapping/Recurrent CNVs; de novo CNVs; Novara, 2010
AutCNV0003205 5 5p14.3 loss 2 - Overlapping/Recurrent CNVs; Gai, 2011
AutCNV0003219 5 5q23.1 loss 2 - Overlapping/Recurrent CNVs; Gai, 2011
AutCNV0004241 5 5p15.2-p15.33 loss 1 - Overlapping/Recurrent CNVs; Sanders, 2011
AutCNV0004242 5 5p15.2 loss 1 - Overlapping/Recurrent CNVs; Sanders, 2011
AutCNV0004243 5 5p15.2 loss 1 - Overlapping/Recurrent CNVs; Sanders, 2011

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  (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