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
AutCNV0001327 14 14q24.3 loss 1 - Pinto, 2010
AutCNV0001328 14 14q31.3 loss 1 - Pinto, 2010
AutCNV0001329 15 15q13.2 loss 1 - Pinto, 2010
AutCNV0001330 15 15q13.3 gain 1 - Pinto, 2010
AutCNV0001331 15 15q21.3 loss 1 - Pinto, 2010
AutCNV0001332 15 15q25.2 gain 1 - Pinto, 2010
AutCNV0001333 15 15q25.2 gain 1 - Pinto, 2010
AutCNV0001334 15 15q26.2 loss 1 - Pinto, 2010
AutCNV0001335 15 15q26.2 loss 1 - Pinto, 2010
AutCNV0001336 15 15q26.2 loss 1 - Pinto, 2010
AutCNV0001337 15 15q26.3 gain 1 - Pinto, 2010
AutCNV0001338 15 15q26.3 gain 1 - Pinto, 2010
AutCNV0001339 16 16p12.2 gain 1 - Pinto, 2010
AutCNV0001340 16 16p12.2 gain 1 - Pinto, 2010
AutCNV0001341 16 16p11.2 gain 1 - Pinto, 2010
AutCNV0001342 16 16p11.2 loss 1 - Pinto, 2010
AutCNV0001343 16 16q23.1 loss 1 - Pinto, 2010
AutCNV0001344 16 16q23.2 loss 1 - Pinto, 2010
AutCNV0001345 16 16q23.3 gain 1 - Pinto, 2010
AutCNV0001346 17 17p13.3 loss 1 - Pinto, 2010
AutCNV0001347 17 17p11.2 loss 1 - Pinto, 2010
AutCNV0001348 17 17p11.2 gain 1 - Pinto, 2010
AutCNV0001349 17 17q12 loss 1 - Pinto, 2010
AutCNV0001350 17 17q21.31 gain 1 - Pinto, 2010
AutCNV0001351 17 17q24.1 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