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
AutCNV0001127 13 13q22.1 loss 1 - Pinto, 2010
AutCNV0001128 13 13q31.2-31.3 gain 1 - Pinto, 2010
AutCNV0001129 13 13q31.3 loss 1 - Pinto, 2010
AutCNV0001130 13 13q33.1 gain 1 - Pinto, 2010
AutCNV0001131 13 13q33.1 gain 1 - Pinto, 2010
AutCNV0001132 13 13q34 gain 1 - Pinto, 2010
AutCNV0001133 14 14q21.2 loss 1 - Pinto, 2010
AutCNV0001134 14 14q21.2 loss 1 - Pinto, 2010
AutCNV0001135 14 14q21.3 loss 1 - Pinto, 2010
AutCNV0001136 14 14q23.2 gain 1 - Pinto, 2010
AutCNV0001137 14 14q23.3 loss 1 - Pinto, 2010
AutCNV0001138 14 14q31.3 loss 1 - Pinto, 2010
AutCNV0001139 15 15q13.3 gain 1 - Pinto, 2010
AutCNV0001140 15 15q13.3 gain 1 - Pinto, 2010
AutCNV0001141 15 15q13.3 gain 1 - Pinto, 2010
AutCNV0001142 15 15q26.3 gain 1 - Pinto, 2010
AutCNV0001143 16 16p13.13 gain 1 - Pinto, 2010
AutCNV0001144 16 16p11.2 loss 1 - Pinto, 2010
AutCNV0001145 16 16q22.1 gain 1 - Pinto, 2010
AutCNV0001146 16 16q23.3 loss 1 - Pinto, 2010
AutCNV0001147 17 17p13.3 loss 1 - Pinto, 2010
AutCNV0001148 17 17p13.2 loss 1 - Pinto, 2010
AutCNV0001149 17 17q21.31 gain 1 - Pinto, 2010
AutCNV0001150 17 17q22 gain 1 - Pinto, 2010
AutCNV0001151 18 18p11.32 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