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  )


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Notes: ACRD: Autism Chromosome Rearrangement Database
CNV Name Chr Band Gain/Loss Number of CNVs Evidence Type Reference
Case Control
AutCNV0004047 2 2q37.1 gain 1 1 CNVs Only Present In Patients; Levy, 2011
AutCNV0004199 2 2p25.3 gain 2 - Overlapping/Recurrent CNVs; Sanders, 2011
AutCNV0004200 2 2p25.1 gain 1 - CNVs Only Present In Patients; Sanders, 2011
AutCNV0004201 2 2p16.3 gain 1 - Overlapping/Recurrent CNVs; de novo CNVs; Sanders, 2011
AutCNV0004202 2 2p16.3 loss 1 - Overlapping/Recurrent CNVs; de novo CNVs; Sanders, 2011
AutCNV0004203 2 2p16.3 loss 1 - Overlapping/Recurrent CNVs; Sanders, 2011
AutCNV0004204 2 2p16.3 loss 1 - Overlapping/Recurrent CNVs; de novo CNVs; Sanders, 2011
AutCNV0004205 2 2p16.3 loss 1 - Overlapping/Recurrent CNVs; de novo CNVs; Sanders, 2011
AutCNV0004206 2 2p15 gain 1 - CNVs Only Present In Patients; Sanders, 2011
AutCNV0004207 2 2q12.1 loss 1 - CNVs Only Present In Patients; Sanders, 2011
AutCNV0004208 2 2q12.1-q13 loss 1 - CNVs Only Present In Patients; Sanders, 2011
AutCNV0004209 2 2q13 loss 1 - CNVs Only Present In Patients; Sanders, 2011
AutCNV0004210 2 2q24.2 loss 2 - Overlapping/Recurrent CNVs; Sanders, 2011
AutCNV0004211 2 2q31.2 loss 1 - de novo CNVs; Sanders, 2011
AutCNV0004212 2 2q32.1 loss 1 - CNVs Only Present In Patients; Sanders, 2011
AutCNV0004213 2 2q37.2-q37.3 loss 1 - Overlapping/Recurrent CNVs; Sanders, 2011
AutCNV0004214 2 2q37.3 loss 1 - Overlapping/Recurrent CNVs; Sanders, 2011
AutCNV0004401 2 2p16.3 loss 1 - Overlapping/Recurrent CNVs; Sanders, 2011
AutCNV0004402 2 2q37.3 loss 1 - Overlapping/Recurrent CNVs; Sanders, 2011
AutCNV0004403 2 2q37.3 loss 1 - Overlapping/Recurrent CNVs; Sanders, 2011
AutCNV0004493 2 2p22.3 loss - - CNVs Only Present In Patients; Nord, 2011
AutCNV0004496 2 2q22.1 loss - - CNVs Only Present In Patients; Nord, 2011
AutCNV0004500 2 2q13 loss - - CNVs Only Present In Patients; Nord, 2011
AutCNV0004515 2 2p16.3 loss - - CNVs Only Present In Patients; Nord, 2011
AutCNV0004549 2 2q13 Loss 1 - de novo CNVs; Patircia, 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