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
AutCNV0001577 1 1q43 loss 1 - Pinto, 2010
AutCNV0001578 1 1q43 loss 1 - Pinto, 2010
AutCNV0001579 1 1q44 loss 1 - Pinto, 2010
AutCNV0001580 16 16p13.3 gain 1 - Pinto, 2010
AutCNV0001581 2 2p25.3 loss 1 - Pinto, 2010
AutCNV0001582 2 2p22.3 loss 1 - Pinto, 2010
AutCNV0001583 2 2p22.2 loss 1 - Pinto, 2010
AutCNV0001584 2 2p22.1 loss 1 - Pinto, 2010
AutCNV0001585 2 2p21 loss 1 - Pinto, 2010
AutCNV0001586 2 2p16.3 loss 1 - Pinto, 2010
AutCNV0001587 2 2p16.3 loss 1 - Pinto, 2010
AutCNV0001588 2 2p16.2 loss 1 - Pinto, 2010
AutCNV0001589 2 2p16.2 loss 1 - Pinto, 2010
AutCNV0001590 2 2p16.2 loss 1 - Pinto, 2010
AutCNV0001591 2 2p16.1 loss 1 - Pinto, 2010
AutCNV0001592 2 2p15 gain 1 - Pinto, 2010
AutCNV0001593 2 2p13.1 gain 1 - Pinto, 2010
AutCNV0001594 2 2p12 loss 1 - Pinto, 2010
AutCNV0001595 2 2p12 loss 1 - Pinto, 2010
AutCNV0001596 2 2p12 gain 1 - Pinto, 2010
AutCNV0001597 2 2p12 gain 1 - Pinto, 2010
AutCNV0001598 2 2p11.2 gain 1 - Pinto, 2010
AutCNV0001599 2 2p11.2 gain 1 - Pinto, 2010
AutCNV0001600 2 2p11.2 gain 1 - Pinto, 2010
AutCNV0001601 2 2p11.2 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


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