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:21 ( 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
AutCNV0000134 21 21q22 loss 1 - de novo CNVs; Jacquemont, 2006
AutCNV0000156 21 21q22.3 gain 1 - de novo CNVs; Marshall, 2008
AutCNV0000243 21 21q22.12 gain 1 - CNVs Only Present In Patients; Christian, 2008
AutCNV0000327 21 21q21.2 gain 1 - CNVs Only Present In Patients; Cusco, 2008
AutCNV0000654 21 21p11.1-11.2 Loss 1 - Overlapping/Recurrent CNVs; Gregory, 2009
AutCNV0000918 21 21q22.3 loss 1 - Pinto, 2010
AutCNV0000938 21 21q11.2 gain 1 - Pinto, 2010
AutCNV0000939 21 21q11.2 loss 1 - Pinto, 2010
AutCNV0000965 21 21q22.3 gain 1 - de novo CNVs; Pinto, 2010
AutCNV0001457 21 21q22.11 loss 1 - Pinto, 2010
AutCNV0001467 21 21q22.3 gain 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
AutCNV0002202 21 21q21.1 loss 1 - Pinto, 2010
AutCNV0002203 21 21q21.2 loss 1 - Pinto, 2010
AutCNV0002204 21 21q21.2 loss 1 - Pinto, 2010
AutCNV0002205 21 21q21.2 loss 1 - Pinto, 2010
AutCNV0002206 21 21q21.2 loss 1 - Pinto, 2010
AutCNV0002207 21 21q21.3 loss 1 - Pinto, 2010
AutCNV0002208 21 21q21.3 gain 1 - Pinto, 2010
AutCNV0002209 21 21q22.12 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