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  )


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
AutCNV0002252 6 6p22.3 gain 1 - Pinto, 2010
AutCNV0002253 6 6p21.33 loss 1 - Pinto, 2010
AutCNV0002254 6 6p21.33 loss 1 - Pinto, 2010
AutCNV0002255 2 2p25.3 gain 1 - Pinto, 2010
AutCNV0002256 7 7p22.3 gain 1 - Pinto, 2010
AutCNV0002257 7 7p22.3 gain 1 - Pinto, 2010
AutCNV0002258 7 7q11.23 gain 1 - Pinto, 2010
AutCNV0002259 7 7q31.1 loss 1 - Pinto, 2010
AutCNV0002260 7 7q35 loss 1 - Pinto, 2010
AutCNV0002261 7 7q36.3 gain 1 - Pinto, 2010
AutCNV0002262 8 8q21.3 gain 1 - Pinto, 2010
AutCNV0002263 8 8q24.3 loss 1 - Pinto, 2010
AutCNV0002264 8 8q24.3 loss 1 - Pinto, 2010
AutCNV0002265 9 9p23 loss 1 - Pinto, 2010
AutCNV0002266 9 9p21.1 loss 1 - Pinto, 2010
AutCNV0002267 9 9p11.2-12 gain 1 - Pinto, 2010
AutCNV0002268 9 9p11.2-12 gain 1 - Pinto, 2010
AutCNV0002269 9 9q34.11 gain 1 - Pinto, 2010
AutCNV0002270 9 9q34.3 gain 1 - Pinto, 2010
AutCNV0002271 9 9q34.3 gain 1 - Pinto, 2010
AutCNV0002272 11 11p15.4 loss 1 - Pinto, 2010
AutCNV0002273 11 11p11.2 loss 1 - Pinto, 2010
AutCNV0002274 11 11p11.12-11.2 loss 1 - Pinto, 2010
AutCNV0002275 11 11q25 gain 1 - Pinto, 2010
AutCNV0002276 12 12q22 gain 1 - Pinto, 2010

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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