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
AutCNV0000927 6 6p25.2 gain 1 - Pinto, 2010
AutCNV0000928 6 6p21.33 loss 1 - Pinto, 2010
AutCNV0000929 7 7q22.1 gain 1 - Pinto, 2010
AutCNV0000930 11 11q14.2 gain 1 - Pinto, 2010
AutCNV0000931 11 11q25 gain 1 - Pinto, 2010
AutCNV0000932 12 12q13.13 gain 1 - Pinto, 2010
AutCNV0000933 12 12q24.33 gain 1 - Pinto, 2010
AutCNV0000934 14 14q13.1 gain 1 - Pinto, 2010
AutCNV0000935 14 14q21.2-21.3 gain 1 - Pinto, 2010
AutCNV0000936 14 14q21.3 gain 1 - Pinto, 2010
AutCNV0000937 15 15q25.2 gain 1 - Pinto, 2010
AutCNV0000938 21 21q11.2 gain 1 - Pinto, 2010
AutCNV0000939 21 21q11.2 loss 1 - Pinto, 2010
AutCNV0000940 X Xp11.4 gain 1 - Pinto, 2010
AutCNV0000941 X Xq23 gain 1 - Pinto, 2010
AutCNV0000942 X Xq27.2 loss 1 - Pinto, 2010
AutCNV0000943 2 2p22.3 gain 1 - Pinto, 2010
AutCNV0000944 4 4q13.3 loss 1 - Pinto, 2010
AutCNV0000945 5 5q23.3 gain 1 - Pinto, 2010
AutCNV0000946 8 8p23.3 loss 1 - Pinto, 2010
AutCNV0000947 8 8p23.2 gain 1 - Pinto, 2010
AutCNV0000948 9 9p21.1 loss 1 - Pinto, 2010
AutCNV0000949 11 11q25 gain 1 - Pinto, 2010
AutCNV0000950 13 13q33.1 loss 1 - Pinto, 2010
AutCNV0000951 14 14q21.3 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