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
AutCNV0000880 5 5q21.2 loss 1 - Pinto, 2010
AutCNV0000904 5 5q21.1 loss 1 - Pinto, 2010
AutCNV0000926 5 5p15.2 loss 1 - Pinto, 2010
AutCNV0000945 5 5q23.3 gain 1 - Pinto, 2010
AutCNV0000955 5 5q35.3 gain 1 - Pinto, 2010
AutCNV0000957 5 5p15.2 loss 1 - Pinto, 2010
AutCNV0001039 5 5p15.33 gain 1 - Pinto, 2010
AutCNV0001040 5 5p15.33 loss 1 - Pinto, 2010
AutCNV0001041 5 5p15.32 gain 1 - Pinto, 2010
AutCNV0001042 5 5p15.1 loss 1 - Pinto, 2010
AutCNV0001043 5 5p13.3 gain 1 - Pinto, 2010
AutCNV0001044 5 5q11.2 gain 1 - Pinto, 2010
AutCNV0001045 5 5q12.1 gain 1 - Pinto, 2010
AutCNV0001046 5 5q21.1 loss 1 - Pinto, 2010
AutCNV0001047 5 5q21.2-21.3 gain 1 - Pinto, 2010
AutCNV0001048 5 5q22.1 gain 1 - Pinto, 2010
AutCNV0001049 5 5q23.1 gain 1 - Pinto, 2010
AutCNV0001050 5 5q33.1 loss 1 - Pinto, 2010
AutCNV0001051 5 5q35.3 gain 1 - Pinto, 2010
AutCNV0001227 5 5p15.33 gain 1 - Pinto, 2010
AutCNV0001228 5 5p15.33 loss 1 - Pinto, 2010
AutCNV0001229 5 5p15.33 loss 1 - Pinto, 2010
AutCNV0001230 5 5p15.2 gain 1 - Pinto, 2010
AutCNV0001231 5 5p15.2 loss 1 - Pinto, 2010
AutCNV0001232 5 5p15.1 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