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  )


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Notes: ACRD: Autism Chromosome Rearrangement Database
CNV Name Chr Band Gain/Loss Number of CNVs Evidence Type Reference
Case Control
AutCNV0001477 7 7p14.1 loss 1 - de novo CNVs; Pinto, 2010
AutCNV0001478 7 7q34 loss 1 - de novo CNVs; Pinto, 2010
AutCNV0001479 1 1p34.1 gain 1 - de novo CNVs; Pinto, 2010
AutCNV0001480 15 15q15.3 loss 1 - de novo CNVs; Pinto, 2010
AutCNV0001481 10 10p15.1 loss 1 - de novo CNVs; Pinto, 2010
AutCNV0001482 7 7q35 loss 1 - Pinto, 2010
AutCNV0001483 7 7q35 loss 1 - Pinto, 2010
AutCNV0001484 16 16p11.2 gain 1 - de novo CNVs; Pinto, 2010
AutCNV0001485 19 19p12 gain 1 - Pinto, 2010
AutCNV0001486 1 1q21.1 gain 1 - de novo CNVs; Pinto, 2010
AutCNV0001487 5 5q34 loss 1 - de novo CNVs; Pinto, 2010
AutCNV0001488 8 8p23.2 loss 1 - de novo CNVs; Pinto, 2010
AutCNV0001489 8 8q13.1 loss 1 - de novo CNVs; Pinto, 2010
AutCNV0001490 10 10p12.31 loss 1 - de novo CNVs; Pinto, 2010
AutCNV0001491 11 11q14.2 loss 1 - de novo CNVs; Pinto, 2010
AutCNV0001492 4 4q21.22 loss 1 - de novo CNVs; Pinto, 2010
AutCNV0001493 1 1p36.13 loss 1 - de novo CNVs; Pinto, 2010
AutCNV0001494 10 10p12.31 loss 1 - de novo CNVs; Pinto, 2010
AutCNV0001495 X Xq21.1 loss 1 - de novo CNVs; Pinto, 2010
AutCNV0001496 1 1q12-21.1 gain 1 - Pinto, 2010
AutCNV0001497 1 1p36.13 loss 1 - Pinto, 2010
AutCNV0001498 1 1q21.1 gain 1 - Pinto, 2010
AutCNV0001499 2 2p11.2 loss 1 - Pinto, 2010
AutCNV0001500 3 3p12.3 gain 1 - Pinto, 2010
AutCNV0001501 5 5q35.2 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