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
AutCNV0002177 19 19q13.41 gain 1 - Pinto, 2010
AutCNV0002178 19 19q13.41 gain 1 - Pinto, 2010
AutCNV0002179 19 19q13.42 gain 1 - Pinto, 2010
AutCNV0002180 19 19q13.43 gain 1 - Pinto, 2010
AutCNV0002181 20 20p12.3 gain 1 - Pinto, 2010
AutCNV0002182 20 20p12.2-12.3 gain 1 - Pinto, 2010
AutCNV0002183 20 20p12.2 gain 1 - Pinto, 2010
AutCNV0002184 20 20p12.1 loss 1 - Pinto, 2010
AutCNV0002185 20 20p12.1 loss 1 - Pinto, 2010
AutCNV0002186 20 20p11.22 gain 1 - Pinto, 2010
AutCNV0002187 20 20p11.21 loss 1 - Pinto, 2010
AutCNV0002188 20 20p11.21 loss 1 - Pinto, 2010
AutCNV0002189 20 20q11.23-12 gain 1 - Pinto, 2010
AutCNV0002190 20 20q12 loss 1 - Pinto, 2010
AutCNV0002191 20 20q12 loss 1 - Pinto, 2010
AutCNV0002192 20 20q12 loss 1 - Pinto, 2010
AutCNV0002193 20 20q12 loss 1 - Pinto, 2010
AutCNV0002194 20 20q12 loss 1 - Pinto, 2010
AutCNV0002195 20 20q13.12 loss 1 - Pinto, 2010
AutCNV0002196 21 21q11.2 gain 1 - Pinto, 2010
AutCNV0002197 21 21q21.1 gain 1 - Pinto, 2010
AutCNV0002198 21 21q21.1 loss 1 - Pinto, 2010
AutCNV0002199 21 21q21.1 loss 1 - Pinto, 2010
AutCNV0002200 21 21q21.1 loss 1 - Pinto, 2010
AutCNV0002201 21 21q21.1 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