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:5 ( 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
AutCNV0001233 5 5p15.1 loss 1 - Pinto, 2010
AutCNV0001234 5 5p14.3 loss 1 - Pinto, 2010
AutCNV0001235 5 5q12.1 gain 1 - Pinto, 2010
AutCNV0001236 5 5q12.1 gain 1 - Pinto, 2010
AutCNV0001237 5 5q14.3 gain 1 - Pinto, 2010
AutCNV0001238 5 5q21.1 loss 1 - Pinto, 2010
AutCNV0001239 5 5q21.1 loss 1 - Pinto, 2010
AutCNV0001240 5 5q23.1 loss 1 - Pinto, 2010
AutCNV0001409 5 5p15.1 loss 1 - Pinto, 2010
AutCNV0001473 5 5q23.3 loss 1 - Pinto, 2010
AutCNV0001487 5 5q34 loss 1 - de novo CNVs; Pinto, 2010
AutCNV0001501 5 5q35.2 loss 1 - Pinto, 2010
AutCNV0001519 5 5p14.1 gain 1 - Pinto, 2010
AutCNV0001733 5 5p15.33 loss 1 - Pinto, 2010
AutCNV0001734 5 5p15.33 loss 1 - Pinto, 2010
AutCNV0001735 5 5p15.33 loss 1 - Pinto, 2010
AutCNV0001736 5 5p15.33 gain 1 - Pinto, 2010
AutCNV0001737 5 5p15.33 gain 1 - Pinto, 2010
AutCNV0001738 5 5p15.31-15.32 loss 1 - Pinto, 2010
AutCNV0001739 5 5p15.31 loss 1 - Pinto, 2010
AutCNV0001740 5 5p15.2 loss 1 - Pinto, 2010
AutCNV0001741 5 5p15.2 loss 1 - Pinto, 2010
AutCNV0001742 5 5p15.2 loss 1 - Pinto, 2010
AutCNV0001743 5 5p15.1 gain 1 - Pinto, 2010
AutCNV0001744 5 5p14.3 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