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
AutCNV0000952 15 15q11.2 loss 1 - Pinto, 2010
AutCNV0000953 15 15q13.1-13.2 gain 1 - Pinto, 2010
AutCNV0000954 17 17p11.2 gain 1 - Pinto, 2010
AutCNV0000955 5 5q35.3 gain 1 - Pinto, 2010
AutCNV0000956 1 1p33 loss 1 - Pinto, 2010
AutCNV0000957 5 5p15.2 loss 1 - Pinto, 2010
AutCNV0000958 6 6p25.3 gain 1 - Pinto, 2010
AutCNV0000959 6 6q24.1 gain 1 - Pinto, 2010
AutCNV0000960 9 9p21.1 loss 1 - Pinto, 2010
AutCNV0000961 X Xp22.11 loss 1 - Pinto, 2010
AutCNV0000962 X Xp21.1 gain 1 - Pinto, 2010
AutCNV0000963 16 16p11.2 loss 1 - 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
AutCNV0000971 16 16q12.2 loss 1 - Pinto, 2010
AutCNV0000972 1 1p36.13 loss 1 - Pinto, 2010
AutCNV0000973 1 1p34.2 gain 1 - Pinto, 2010
AutCNV0000974 19 19q13.2 gain 1 - Pinto, 2010
AutCNV0000975 16 16p12.1 loss 1 - Pinto, 2010
AutCNV0000976 1 1p36.33 gain 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