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
AutCNV0000902 3 3p26.2 loss 1 - Pinto, 2010
AutCNV0000903 3 3p25.1 loss 1 - Pinto, 2010
AutCNV0000904 5 5q21.1 loss 1 - Pinto, 2010
AutCNV0000905 6 6p21.31 gain 1 - Pinto, 2010
AutCNV0000906 6 6q14.1 gain 1 - Pinto, 2010
AutCNV0000907 7 7p21.3 gain 1 - Pinto, 2010
AutCNV0000908 7 7q36.1 loss 1 - Pinto, 2010
AutCNV0000909 8 8q24.3 gain 1 - Pinto, 2010
AutCNV0000910 9 9q34.3 gain 1 - Pinto, 2010
AutCNV0000911 11 11q22.1 loss 1 - Pinto, 2010
AutCNV0000912 12 12p13.33 loss 1 - Pinto, 2010
AutCNV0000913 12 12q21.2 loss 1 - Pinto, 2010
AutCNV0000914 17 17q12 loss 1 - Pinto, 2010
AutCNV0000915 19 19p13.2-13.3 gain 1 - Pinto, 2010
AutCNV0000916 19 19p13.2-13.3 gain 1 - Pinto, 2010
AutCNV0000917 19 19q13.41 gain 1 - Pinto, 2010
AutCNV0000918 21 21q22.3 loss 1 - Pinto, 2010
AutCNV0000919 3 3q29 gain 1 - Pinto, 2010
AutCNV0000920 1 1p34.2 gain 1 - Pinto, 2010
AutCNV0000921 2 2p22.3 loss 1 - Pinto, 2010
AutCNV0000922 3 3p12.2 loss 1 - Pinto, 2010
AutCNV0000923 3 3q26.1 loss 1 - Pinto, 2010
AutCNV0000924 4 4p14-15.1 gain 1 - Pinto, 2010
AutCNV0000925 4 4q22.3 loss 1 - Pinto, 2010
AutCNV0000926 5 5p15.2 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