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
AutCNV0001252 7 7p21.3 loss 1 - Pinto, 2010
AutCNV0001253 7 7p21.3 loss 1 - Pinto, 2010
AutCNV0001254 7 7p21.2 loss 1 - Pinto, 2010
AutCNV0001255 7 7p12.3 loss 1 - Pinto, 2010
AutCNV0001256 7 7q11.22 gain 1 - Pinto, 2010
AutCNV0001257 7 7q11.22 gain 1 - Pinto, 2010
AutCNV0001258 7 7q11.22 gain 1 - Pinto, 2010
AutCNV0001259 7 7q31.1 loss 1 - Pinto, 2010
AutCNV0001260 7 7q31.1 loss 1 - Pinto, 2010
AutCNV0001261 7 7q31.1 loss 1 - Pinto, 2010
AutCNV0001262 7 7q34 loss 1 - Pinto, 2010
AutCNV0001263 7 7q35 gain 1 - Pinto, 2010
AutCNV0001264 7 7q36.1 gain 1 - Pinto, 2010
AutCNV0001265 7 7q36.3 gain 1 - Pinto, 2010
AutCNV0001266 8 8p23.1 gain 1 - Pinto, 2010
AutCNV0001267 8 8p22 loss 1 - Pinto, 2010
AutCNV0001268 8 8p12 loss 1 - Pinto, 2010
AutCNV0001269 8 8q11.23 loss 1 - Pinto, 2010
AutCNV0001270 8 8q13.3 gain 1 - Pinto, 2010
AutCNV0001271 8 8q21.3 gain 1 - Pinto, 2010
AutCNV0001272 8 8q24.13 loss 1 - Pinto, 2010
AutCNV0001273 9 9p24.1 loss 1 - Pinto, 2010
AutCNV0001274 9 9p23 loss 1 - Pinto, 2010
AutCNV0001275 9 9p23 loss 1 - Pinto, 2010
AutCNV0001276 9 9p21.1 loss 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