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:8 ( 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
AutCNV0000079 8 8p23.2 gain 1 - Overlapping/Recurrent CNVs; Szatmari, 2007
AutCNV0000080 8 8p23.2 gain 1 - Overlapping/Recurrent CNVs; Szatmari, 2007
AutCNV0000081 8 8p23.2 gain 1 - Overlapping/Recurrent CNVs; Szatmari, 2007
AutCNV0000082 8 8q22.3-24.3 gain 1 - Overlapping/Recurrent CNVs; Szatmari, 2007
AutCNV0000250 8 8p23.3-23.2 loss 3 - Overlapping/Recurrent CNVs; Yu, 2002
AutCNV0000251 8 8q24.23 loss 10 - Overlapping/Recurrent CNVs; Yu, 2002
AutCNV0000388 8 8p23.1 loss 12 8 Overlapping/Recurrent CNVs; Significant Enriched CNVs; Cho, 2009
AutCNV0000526 8 8p21.3 Gain 1 - Overlapping/Recurrent CNVs; Gregory, 2009
AutCNV0000527 8 8p11.23-12 Gain 1 - Overlapping/Recurrent CNVs; Gregory, 2009
AutCNV0000528 8 8p11.1 Gain 1 - Overlapping/Recurrent CNVs; Gregory, 2009
AutCNV0000529 8 8p11.1 Loss 1 - Overlapping/Recurrent CNVs; Gregory, 2009
AutCNV0000530 8 8q22.1 High Copy Gain 1 - Overlapping/Recurrent CNVs; Gregory, 2009
AutCNV0000531 8 8q22.1 Gain 1 - Overlapping/Recurrent CNVs; Gregory, 2009
AutCNV0000532 8 8q22.1 Gain 1 - Overlapping/Recurrent CNVs; Gregory, 2009
AutCNV0000680 8 8p21.2-p23.1 gain 1 - Overlapping/Recurrent CNVs; Ozgen, 2009
AutCNV0000681 8 8p23.1 loss 1 - Overlapping/Recurrent CNVs; de novo CNVs; Ozgen, 2009
AutCNV0000682 8 8p23.1-p23.2 gain 2 - Overlapping/Recurrent CNVs; Ozgen, 2009
AutCNV0003272 8 8p23.2 loss 2 - Overlapping/Recurrent CNVs; Gai, 2011
AutCNV0003283 8 8p11.1 loss 2 - Overlapping/Recurrent CNVs; Gai, 2011
AutCNV0003284 8 8p11.1 loss 3 - Overlapping/Recurrent CNVs; Gai, 2011
AutCNV0003623 8 8q21.13 loss 2 - Overlapping/Recurrent CNVs; Gai, 2011
AutCNV0004273 8 8p23.3 gain 1 - Overlapping/Recurrent CNVs; de novo CNVs; Sanders, 2011
AutCNV0004274 8 8p23.3 gain 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