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:4 ( 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
AutCNV0000924 4 4p14-15.1 gain 1 - Pinto, 2010
AutCNV0000925 4 4q22.3 loss 1 - Pinto, 2010
AutCNV0000944 4 4q13.3 loss 1 - Pinto, 2010
AutCNV0001025 4 4p16.3 loss 1 - Pinto, 2010
AutCNV0001026 4 4p16.3 gain 1 - Pinto, 2010
AutCNV0001027 4 4p15.33 loss 1 - Pinto, 2010
AutCNV0001028 4 4q12 loss 1 - Pinto, 2010
AutCNV0001029 4 4q12 gain 1 - Pinto, 2010
AutCNV0001030 4 4q13.2 loss 1 - Pinto, 2010
AutCNV0001031 4 4q13.3 loss 1 - Pinto, 2010
AutCNV0001032 4 4q28.1 gain 1 - Pinto, 2010
AutCNV0001033 4 4q28.3 loss 1 - Pinto, 2010
AutCNV0001034 4 4q31.3 gain 1 - Pinto, 2010
AutCNV0001035 4 4q32.3 loss 1 - Pinto, 2010
AutCNV0001036 4 4q34.1 loss 1 - Pinto, 2010
AutCNV0001037 4 4q34.3 gain 1 - Pinto, 2010
AutCNV0001038 4 4q34.3 loss 1 - Pinto, 2010
AutCNV0001214 4 4p15.31 gain 1 - Pinto, 2010
AutCNV0001215 4 4p14 gain 1 - Pinto, 2010
AutCNV0001216 4 4p13 gain 1 - Pinto, 2010
AutCNV0001217 4 4q12 gain 1 - Pinto, 2010
AutCNV0001218 4 4q12 gain 1 - Pinto, 2010
AutCNV0001219 4 4q13.2 loss 1 - Pinto, 2010
AutCNV0001220 4 4q13.3 gain 1 - Pinto, 2010
AutCNV0001221 4 4q21.3 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


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