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
AutCNV0001452 7 7q31.33 loss 1 - Pinto, 2010
AutCNV0001453 12 12p11.22 loss 1 - Pinto, 2010
AutCNV0001454 1 1q31.3 loss 1 - Pinto, 2010
AutCNV0001455 7 7q35 loss 1 - Pinto, 2010
AutCNV0001456 12 12p13.31 loss 1 - Pinto, 2010
AutCNV0001457 21 21q22.11 loss 1 - Pinto, 2010
AutCNV0001458 1 1p36.33 gain 1 - Pinto, 2010
AutCNV0001459 1 1p36.32-36.33 gain 1 - Pinto, 2010
AutCNV0001460 1 1q31.1 gain 1 - Pinto, 2010
AutCNV0001461 1 1q44 gain 1 - Pinto, 2010
AutCNV0001462 1 1q44 gain 1 - Pinto, 2010
AutCNV0001463 2 2p25.3 gain 1 - Pinto, 2010
AutCNV0001464 14 14q32.33 gain 1 - Pinto, 2010
AutCNV0001465 19 19q13.43 gain 1 - Pinto, 2010
AutCNV0001466 20 20q13.33 gain 1 - Pinto, 2010
AutCNV0001467 21 21q22.3 gain 1 - Pinto, 2010
AutCNV0001468 22 22q13.33 gain 1 - Pinto, 2010
AutCNV0001469 1 1p36.33 gain 1 - Pinto, 2010
AutCNV0001470 16 16p11.2 gain 1 - Pinto, 2010
AutCNV0001471 22 22q13.2 gain 1 - Pinto, 2010
AutCNV0001472 19 19q12 gain 1 - Pinto, 2010
AutCNV0001473 5 5q23.3 loss 1 - Pinto, 2010
AutCNV0001474 2 2q22.1 loss 1 - Pinto, 2010
AutCNV0001475 8 8q24.3 loss 1 - Pinto, 2010
AutCNV0001476 16 16p13.3 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