AutismKB 2.0

View CNVs/SVs


View by Evidence Type: de novo CNVs ( 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
AutCNV0000828 2 2p16.3 loss 1 - de novo CNVs; Pinto, 2010
AutCNV0000829 2 2p16.3 loss 1 - de novo CNVs; Pinto, 2010
AutCNV0000830 2 2q31.2 loss 1 - de novo CNVs; Pinto, 2010
AutCNV0000845 7 7q22.1 loss 1 - de novo CNVs; Pinto, 2010
AutCNV0000846 14 14q11.2 gain 1 - de novo CNVs; Pinto, 2010
AutCNV0000964 7 7p14.1 loss 1 - de novo CNVs; Pinto, 2010
AutCNV0000965 21 21q22.3 gain 1 - de novo CNVs; Pinto, 2010
AutCNV0000966 16 16p11.2 loss 1 - de novo CNVs; Pinto, 2010
AutCNV0000967 8 8q24.3 gain 1 - de novo CNVs; Pinto, 2010
AutCNV0000968 20 20p12.1 loss 1 - de novo CNVs; Pinto, 2010
AutCNV0000969 3 3p24.3 loss 1 - de novo CNVs; Pinto, 2010
AutCNV0000970 1 1p36.13 loss 1 - de novo CNVs; Pinto, 2010
AutCNV0001172 1 1p36.13 loss 1 - de novo CNVs; Pinto, 2010
AutCNV0001173 1 1p36.13 loss 1 - de novo CNVs; Pinto, 2010
AutCNV0001389 1 1p36.13 loss 1 - de novo CNVs; Pinto, 2010
AutCNV0001401 8 8q11.21 gain 1 - de novo CNVs; Pinto, 2010
AutCNV0001477 7 7p14.1 loss 1 - de novo CNVs; Pinto, 2010
AutCNV0001478 7 7q34 loss 1 - de novo CNVs; Pinto, 2010
AutCNV0001479 1 1p34.1 gain 1 - de novo CNVs; Pinto, 2010
AutCNV0001480 15 15q15.3 loss 1 - de novo CNVs; Pinto, 2010
AutCNV0001481 10 10p15.1 loss 1 - de novo CNVs; Pinto, 2010
AutCNV0001484 16 16p11.2 gain 1 - de novo CNVs; Pinto, 2010
AutCNV0001486 1 1q21.1 gain 1 - de novo CNVs; Pinto, 2010
AutCNV0001487 5 5q34 loss 1 - de novo CNVs; Pinto, 2010
AutCNV0001488 8 8p23.2 loss 1 - de novo CNVs; Pinto, 2010

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  (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