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
AutCNV0002552 5 5q21.1 loss 1 - Pinto, 2010
AutCNV0002553 5 5q21.1 loss 1 - Pinto, 2010
AutCNV0002554 5 5q21.1 loss 1 - Pinto, 2010
AutCNV0002555 5 5q21.3 loss 1 - Pinto, 2010
AutCNV0002556 5 5q21.3 gain 1 - Pinto, 2010
AutCNV0002557 5 5q22.1 loss 1 - Pinto, 2010
AutCNV0002558 5 5q22.3 loss 1 - Pinto, 2010
AutCNV0002559 5 5q22.3 loss 1 - Pinto, 2010
AutCNV0002560 5 5q23.1 gain 1 - Pinto, 2010
AutCNV0002561 5 5q23.1 loss 1 - Pinto, 2010
AutCNV0002562 5 5q23.1 loss 1 - Pinto, 2010
AutCNV0002563 5 5q23.1 loss 1 - Pinto, 2010
AutCNV0002564 5 5q23.2 gain 1 - Pinto, 2010
AutCNV0002565 5 5q33.1 gain 1 - Pinto, 2010
AutCNV0002566 5 5q35.2 gain 1 - Pinto, 2010
AutCNV0002567 5 5q35.3 gain 1 - Pinto, 2010
AutCNV0002568 5 5q35.3 loss 1 - Pinto, 2010
AutCNV0002569 4 4p16.3 gain 1 - Pinto, 2010
AutCNV0002570 6 6p25.1 loss 1 - Pinto, 2010
AutCNV0002571 6 6p25.1 loss 1 - Pinto, 2010
AutCNV0002572 6 6p25.1 loss 1 - Pinto, 2010
AutCNV0002573 6 6p25.1 loss 1 - Pinto, 2010
AutCNV0002574 6 6p24.3 gain 1 - Pinto, 2010
AutCNV0002575 6 6p24.3 loss 1 - Pinto, 2010
AutCNV0002576 6 6p24.2-24.3 loss 1 - Pinto, 2010

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  (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