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
AutCNV0001181 1 1p12 gain 1 - Pinto, 2010
AutCNV0001182 1 1p11.2 gain 1 - Pinto, 2010
AutCNV0001183 1 1q21.1 loss 1 - Pinto, 2010
AutCNV0001184 1 1q25.2 gain 1 - Pinto, 2010
AutCNV0001185 1 1q31.3 gain 1 - Pinto, 2010
AutCNV0001186 1 1q42.2 gain 1 - Pinto, 2010
AutCNV0001187 1 1q43 loss 1 - Pinto, 2010
AutCNV0001388 1 1p36.13 loss 1 - Pinto, 2010
AutCNV0001389 1 1p36.13 loss 1 - de novo CNVs; Pinto, 2010
AutCNV0001402 1 1q42.12 gain 1 - Pinto, 2010
AutCNV0001434 1 1p36.33 gain 1 - Pinto, 2010
AutCNV0001435 1 1p36.33 gain 1 - Pinto, 2010
AutCNV0001436 1 1p36.32 gain 1 - Pinto, 2010
AutCNV0001437 1 1p36.32 gain 1 - Pinto, 2010
AutCNV0001438 1 1p31.1 loss 1 - Pinto, 2010
AutCNV0001439 1 1q31.3 gain 1 - Pinto, 2010
AutCNV0001454 1 1q31.3 loss 1 - Pinto, 2010
AutCNV0001458 1 1p36.33 gain 1 - Pinto, 2010
AutCNV0001459 1 1p36.32-36.33 gain 1 - Pinto, 2010
AutCNV0001460 1 1q31.1 gain 1 - Pinto, 2010
AutCNV0001461 1 1q44 gain 1 - Pinto, 2010
AutCNV0001462 1 1q44 gain 1 - Pinto, 2010
AutCNV0001469 1 1p36.33 gain 1 - Pinto, 2010
AutCNV0001479 1 1p34.1 gain 1 - de novo CNVs; Pinto, 2010
AutCNV0001486 1 1q21.1 gain 1 - de novo CNVs; 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