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:12 ( 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
AutCNV0000097 12 12p11.23 gain 1 - Overlapping/Recurrent CNVs; Szatmari, 2007
AutCNV0000098 12 12q11-12 gain 1 - Overlapping/Recurrent CNVs; Szatmari, 2007
AutCNV0000099 12 12q12 loss 1 - Overlapping/Recurrent CNVs; Szatmari, 2007
AutCNV0000100 12 12q12 loss 1 - Overlapping/Recurrent CNVs; Szatmari, 2007
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
AutCNV0000565 12 12p11.21 Gain 1 - Overlapping/Recurrent CNVs; Gregory, 2009
AutCNV0000566 12 12p11.21 Loss 1 - Overlapping/Recurrent CNVs; Gregory, 2009
AutCNV0000567 12 12p11.21 Loss 1 - Overlapping/Recurrent CNVs; Gregory, 2009
AutCNV0000568 12 12p11.1-11.21 Gain 1 - Overlapping/Recurrent CNVs; Gregory, 2009
AutCNV0003343 12 12q14.1 loss 2 - Overlapping/Recurrent CNVs; Gai, 2011
AutCNV0003348 12 12q23.1 loss 2 - Overlapping/Recurrent CNVs; Gai, 2011
AutCNV0003349 12 12q23.1 loss 3 - Overlapping/Recurrent CNVs; Gai, 2011
AutCNV0003672 12 12p11.22 loss 2 - Overlapping/Recurrent CNVs; Gai, 2011
AutCNV0003673 12 12p11.1 gain 2 - Overlapping/Recurrent CNVs; Gai, 2011
AutCNV0004298 12 12p13.2 loss 1 - Overlapping/Recurrent CNVs; Sanders, 2011
AutCNV0004303 12 12q24.21-q24.33 gain 1 - Overlapping/Recurrent CNVs; Sanders, 2011
AutCNV0004304 12 12q24.31 gain 1 - Overlapping/Recurrent CNVs; Sanders, 2011
AutCNV0004405 12 12q12 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