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:2 ( 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
AutCNV0001598 2 2p11.2 gain 1 - Pinto, 2010
AutCNV0001599 2 2p11.2 gain 1 - Pinto, 2010
AutCNV0001600 2 2p11.2 gain 1 - Pinto, 2010
AutCNV0001601 2 2p11.2 gain 1 - Pinto, 2010
AutCNV0001602 2 2p11.2 gain 1 - Pinto, 2010
AutCNV0001603 2 2p11.2 loss 1 - Pinto, 2010
AutCNV0001604 2 2q11.2 loss 1 - Pinto, 2010
AutCNV0001605 2 2q11.2 gain 1 - Pinto, 2010
AutCNV0001606 2 2q11.2 gain 1 - Pinto, 2010
AutCNV0001607 2 2q11.2 gain 1 - Pinto, 2010
AutCNV0001608 2 2q13 gain 1 - Pinto, 2010
AutCNV0001609 2 2q13 gain 1 - Pinto, 2010
AutCNV0001610 2 2q13 gain 1 - Pinto, 2010
AutCNV0001611 2 2q13 gain 1 - Pinto, 2010
AutCNV0001612 2 2q13 loss 1 - Pinto, 2010
AutCNV0001613 2 2q13 loss 1 - Pinto, 2010
AutCNV0001614 2 2q13 gain 1 - Pinto, 2010
AutCNV0001615 2 2q14.1 gain 1 - Pinto, 2010
AutCNV0001616 2 2q14.1 gain 1 - Pinto, 2010
AutCNV0001617 2 2q14.1 gain 1 - Pinto, 2010
AutCNV0001618 2 2q14.1 gain 1 - Pinto, 2010
AutCNV0001619 2 2q14.3 gain 1 - Pinto, 2010
AutCNV0001620 2 2q14.3 loss 1 - Pinto, 2010
AutCNV0001621 2 2q21.1 gain 1 - Pinto, 2010
AutCNV0001622 2 2q21.2 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