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
AutCNV0001770 5 5q21.2 loss 1 - Pinto, 2010
AutCNV0001771 5 5q21.2 loss 1 - Pinto, 2010
AutCNV0001772 5 5q21.2-21.3 loss 1 - Pinto, 2010
AutCNV0001773 5 5q22.1 gain 1 - Pinto, 2010
AutCNV0001774 5 5q22.2 loss 1 - Pinto, 2010
AutCNV0001775 5 5q22.3 loss 1 - Pinto, 2010
AutCNV0001776 5 5q22.3 loss 1 - Pinto, 2010
AutCNV0001777 5 5q23.1 loss 1 - Pinto, 2010
AutCNV0001778 5 5q23.1 loss 1 - Pinto, 2010
AutCNV0001779 5 5q23.1 loss 1 - Pinto, 2010
AutCNV0001780 5 5q23.1 loss 1 - Pinto, 2010
AutCNV0001781 5 5q32 loss 1 - Pinto, 2010
AutCNV0001782 5 5q34 gain 1 - Pinto, 2010
AutCNV0001783 5 5q35.3 gain 1 - Pinto, 2010
AutCNV0001784 5 5q35.3 gain 1 - Pinto, 2010
AutCNV0002249 5 5p14.3 loss 1 - Pinto, 2010
AutCNV0002250 5 5p12 gain 1 - Pinto, 2010
AutCNV0002251 5 5q13.2 gain 1 - Pinto, 2010
AutCNV0002524 5 5p15.33 gain 1 - Pinto, 2010
AutCNV0002525 5 5p15.33 loss 1 - Pinto, 2010
AutCNV0002526 5 5p15.33 loss 1 - Pinto, 2010
AutCNV0002527 5 5p15.33 loss 1 - Pinto, 2010
AutCNV0002528 5 5p15.2 loss 1 - Pinto, 2010
AutCNV0002529 5 5p15.2 loss 1 - Pinto, 2010
AutCNV0002530 5 5p15.2 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