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
AutCNV0002277 13 13q21.31 loss 1 - Pinto, 2010
AutCNV0002278 13 13q21.31 gain 1 - Pinto, 2010
AutCNV0002279 14 14q21.3 gain 1 - Pinto, 2010
AutCNV0002280 14 14q32.33 loss 1 - Pinto, 2010
AutCNV0002281 14 14q32.33 loss 1 - Pinto, 2010
AutCNV0002282 16 16p12.1-12.2 gain 1 - Pinto, 2010
AutCNV0002283 17 17p11.2 gain 1 - Pinto, 2010
AutCNV0002284 18 18q22.3 gain 1 - Pinto, 2010
AutCNV0002285 19 19p13.3 gain 1 - Pinto, 2010
AutCNV0002286 19 19q12 gain 1 - Pinto, 2010
AutCNV0002287 19 19q12 gain 1 - Pinto, 2010
AutCNV0002288 19 19q13.2 loss 1 - Pinto, 2010
AutCNV0002289 19 19q13.31 loss 1 - Pinto, 2010
AutCNV0002290 19 19q13.41 loss 1 - Pinto, 2010
AutCNV0002291 20 20p12.3 gain 1 - Pinto, 2010
AutCNV0002292 20 20p12.1 loss 1 - Pinto, 2010
AutCNV0002293 20 20q13.12 gain 1 - Pinto, 2010
AutCNV0002294 21 21q22.11 gain 1 - Pinto, 2010
AutCNV0002295 22 22q13.1 loss 1 - Pinto, 2010
AutCNV0002296 22 22q13.2 loss 1 - Pinto, 2010
AutCNV0002297 X Xq21.31 gain 1 - Pinto, 2010
AutCNV0002298 X Xq21.31 gain 1 - Pinto, 2010
AutCNV0002299 X Xq27.2 loss 1 - Pinto, 2010
AutCNV0002300 4 4q13.1 loss 1 - Pinto, 2010
AutCNV0002301 9 9p24.3 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