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
AutCNV0002977 19 19q13.41 gain 1 - Pinto, 2010
AutCNV0002978 19 19q13.41 gain 1 - Pinto, 2010
AutCNV0002979 19 19q13.41 loss 1 - Pinto, 2010
AutCNV0002980 19 19q13.42 gain 1 - Pinto, 2010
AutCNV0002981 19 19q13.43 gain 1 - Pinto, 2010
AutCNV0002982 19 19q13.43 gain 1 - Pinto, 2010
AutCNV0002983 20 20p13 gain 1 - Pinto, 2010
AutCNV0002984 20 20p12.1 loss 1 - Pinto, 2010
AutCNV0002985 20 20p12.1 loss 1 - Pinto, 2010
AutCNV0002986 20 20p12.1 loss 1 - Pinto, 2010
AutCNV0002987 20 20p12.1 loss 1 - Pinto, 2010
AutCNV0002988 20 20p12.1 loss 1 - Pinto, 2010
AutCNV0002989 20 20p11.23 loss 1 - Pinto, 2010
AutCNV0002990 20 20q11.21 gain 1 - Pinto, 2010
AutCNV0002991 20 20q12 loss 1 - Pinto, 2010
AutCNV0002992 20 20q13.33 loss 1 - Pinto, 2010
AutCNV0002993 20 20q13.33 loss 1 - Pinto, 2010
AutCNV0002994 20 20q13.33 loss 1 - Pinto, 2010
AutCNV0002995 21 21q11.2 gain 1 - Pinto, 2010
AutCNV0002996 21 21q11.2 loss 1 - Pinto, 2010
AutCNV0002997 21 21q11.2 loss 1 - Pinto, 2010
AutCNV0002998 21 21q21.1 loss 1 - Pinto, 2010
AutCNV0002999 21 21q21.1 loss 1 - Pinto, 2010
AutCNV0003000 21 21q21.2 loss 1 - Pinto, 2010
AutCNV0003001 21 21q21.2 loss 1 - 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