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:1 ( 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
AutCNV0002325 1 1p31.1 loss 1 - Pinto, 2010
AutCNV0002326 1 1p31.1 loss 1 - Pinto, 2010
AutCNV0002327 1 1p31.1 loss 1 - Pinto, 2010
AutCNV0002328 1 1p31.1 gain 1 - Pinto, 2010
AutCNV0002329 1 1p22.2 loss 1 - Pinto, 2010
AutCNV0002330 1 1p21.3 gain 1 - Pinto, 2010
AutCNV0002331 1 1p21.2 gain 1 - Pinto, 2010
AutCNV0002332 1 1p13.2 gain 1 - Pinto, 2010
AutCNV0002333 1 1p12 gain 1 - Pinto, 2010
AutCNV0002334 1 1p11.2 gain 1 - Pinto, 2010
AutCNV0002335 1 1q21.1 loss 1 - Pinto, 2010
AutCNV0002336 1 1q21.1 loss 1 - Pinto, 2010
AutCNV0002337 1 1q21.2 gain 1 - Pinto, 2010
AutCNV0002338 1 1q23.1 loss 1 - Pinto, 2010
AutCNV0002339 1 1q23.1 gain 1 - Pinto, 2010
AutCNV0002340 1 1q23.3 gain 1 - Pinto, 2010
AutCNV0002341 1 1q23.3 gain 1 - Pinto, 2010
AutCNV0002342 1 1q24.2 loss 1 - Pinto, 2010
AutCNV0002343 1 1q24.3 loss 1 - Pinto, 2010
AutCNV0002344 1 1q25.1 loss 1 - Pinto, 2010
AutCNV0002345 1 1q25.2 gain 1 - Pinto, 2010
AutCNV0002346 1 1q25.2 loss 1 - Pinto, 2010
AutCNV0002347 1 1q25.3 loss 1 - Pinto, 2010
AutCNV0002348 1 1q31.1 loss 1 - Pinto, 2010
AutCNV0002349 1 1q31.2 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