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
AutCNV0001402 1 1q42.12 gain 1 - Pinto, 2010
AutCNV0001403 6 6q26 loss 1 - Pinto, 2010
AutCNV0001404 7 7q11.21 loss 1 - Pinto, 2010
AutCNV0001405 10 10q21.1 loss 1 - Pinto, 2010
AutCNV0001406 20 20p12.2 loss 1 - Pinto, 2010
AutCNV0001407 2 2p16.3 loss 1 - Pinto, 2010
AutCNV0001408 2 2q37.2 loss 1 - Pinto, 2010
AutCNV0001409 5 5p15.1 loss 1 - Pinto, 2010
AutCNV0001410 18 18p11.32 loss 1 - Pinto, 2010
AutCNV0001411 19 19q13.41 loss 1 - Pinto, 2010
AutCNV0001412 20 20q13.13 loss 1 - Pinto, 2010
AutCNV0001413 X Xq27.2 gain 1 - Pinto, 2010
AutCNV0001414 15 15q21.1 loss 1 - Pinto, 2010
AutCNV0001415 12 12p13.31 loss 1 - Pinto, 2010
AutCNV0001416 12 12p11.21 gain 1 - Pinto, 2010
AutCNV0001417 12 12p13.31 loss 1 - Pinto, 2010
AutCNV0001418 7 7q36.1 gain 1 - Pinto, 2010
AutCNV0001419 8 8q24.3 gain 1 - Pinto, 2010
AutCNV0001420 9 9p11.2 gain 1 - Pinto, 2010
AutCNV0001421 12 12p13.31 loss 1 - Pinto, 2010
AutCNV0001422 9 9q34.3 gain 1 - Pinto, 2010
AutCNV0001423 9 9q34.3 gain 1 - Pinto, 2010
AutCNV0001424 11 11p15.4 gain 1 - Pinto, 2010
AutCNV0001425 7 7q11.21 gain 1 - Pinto, 2010
AutCNV0001426 7 7q22.1 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