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
AutCNV0000877 5 5p15.2 loss 1 - Pinto, 2010
AutCNV0000878 5 5p15.1 loss 1 - Pinto, 2010
AutCNV0000879 5 5p14.1 loss 1 - Pinto, 2010
AutCNV0000880 5 5q21.2 loss 1 - Pinto, 2010
AutCNV0000881 6 6q16.1 loss 1 - Pinto, 2010
AutCNV0000882 7 7p14.3 gain 1 - Pinto, 2010
AutCNV0000883 7 7p14.1 loss 1 - Pinto, 2010
AutCNV0000884 7 7p12.3 loss 1 - Pinto, 2010
AutCNV0000885 8 8q21.2 loss 1 - Pinto, 2010
AutCNV0000886 9 9p23 loss 1 - Pinto, 2010
AutCNV0000887 9 9q34.3 gain 1 - Pinto, 2010
AutCNV0000888 11 11p15.1 gain 1 - Pinto, 2010
AutCNV0000889 11 11q22.3 gain 1 - Pinto, 2010
AutCNV0000890 13 13q12.12 gain 1 - Pinto, 2010
AutCNV0000891 13 13q32.1 gain 1 - Pinto, 2010
AutCNV0000892 16 16q21 loss 1 - Pinto, 2010
AutCNV0000893 17 17q24.2 loss 1 - Pinto, 2010
AutCNV0000894 18 18p11.31 gain 1 - Pinto, 2010
AutCNV0000895 19 19q13.31 loss 1 - Pinto, 2010
AutCNV0000896 19 19q13.41 gain 1 - Pinto, 2010
AutCNV0000897 19 19q13.41 gain 1 - Pinto, 2010
AutCNV0000898 1 1p36.22 gain 1 - Pinto, 2010
AutCNV0000899 1 1p13.3 loss 1 - Pinto, 2010
AutCNV0000900 1 1q31.1 loss 1 - Pinto, 2010
AutCNV0000901 1 1q44 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