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
AutCNV0002491 4 4q13.2 loss 1 - Pinto, 2010
AutCNV0002492 4 4q13.2 loss 1 - Pinto, 2010
AutCNV0002493 4 4q13.3 loss 1 - Pinto, 2010
AutCNV0002494 4 4q13.3 loss 1 - Pinto, 2010
AutCNV0002495 4 4q13.3 loss 1 - Pinto, 2010
AutCNV0002496 4 4q21.1 loss 1 - Pinto, 2010
AutCNV0002497 4 4q22.1 gain 1 - Pinto, 2010
AutCNV0002498 4 4q23 loss 1 - Pinto, 2010
AutCNV0002499 4 4q25 loss 1 - Pinto, 2010
AutCNV0002500 4 4q26 gain 1 - Pinto, 2010
AutCNV0002501 4 4q26 gain 1 - Pinto, 2010
AutCNV0002502 4 4q28.1 loss 1 - Pinto, 2010
AutCNV0002503 4 4q28.1 loss 1 - Pinto, 2010
AutCNV0002504 4 4q28.2 loss 1 - Pinto, 2010
AutCNV0002505 4 4q28.3 loss 1 - Pinto, 2010
AutCNV0002506 4 4q28.3 loss 1 - Pinto, 2010
AutCNV0002507 4 4q28.3 loss 1 - Pinto, 2010
AutCNV0002508 4 4q28.3 loss 1 - Pinto, 2010
AutCNV0002509 4 4q28.3 loss 1 - Pinto, 2010
AutCNV0002510 4 4q28.3 loss 1 - Pinto, 2010
AutCNV0002511 4 4q31.21 gain 1 - Pinto, 2010
AutCNV0002512 4 4q32.1 gain 1 - Pinto, 2010
AutCNV0002513 4 4q32.1 loss 1 - Pinto, 2010
AutCNV0002514 4 4q32.3 loss 1 - Pinto, 2010
AutCNV0002515 4 4q34.1 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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