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
AutCNV0002387 2 2p12 loss 1 - Pinto, 2010
AutCNV0002388 2 2p12 gain 1 - Pinto, 2010
AutCNV0002389 2 2p11.2 gain 1 - Pinto, 2010
AutCNV0002390 2 2q11.2 gain 1 - Pinto, 2010
AutCNV0002391 2 2q11.2 gain 1 - Pinto, 2010
AutCNV0002392 2 2q13 gain 1 - Pinto, 2010
AutCNV0002393 2 2q13 gain 1 - Pinto, 2010
AutCNV0002394 2 2q13 gain 1 - Pinto, 2010
AutCNV0002395 2 2q13 loss 1 - Pinto, 2010
AutCNV0002396 2 2q13 loss 1 - Pinto, 2010
AutCNV0002397 2 2q13 loss 1 - Pinto, 2010
AutCNV0002398 2 2q14.3 gain 1 - Pinto, 2010
AutCNV0002399 2 2q21.3 loss 1 - Pinto, 2010
AutCNV0002400 2 2q23.2 loss 1 - Pinto, 2010
AutCNV0002401 2 2q24.3 loss 1 - Pinto, 2010
AutCNV0002402 2 2q32.1 gain 1 - Pinto, 2010
AutCNV0002403 2 2q32.1 loss 1 - Pinto, 2010
AutCNV0002404 2 2q32.1 loss 1 - Pinto, 2010
AutCNV0002405 2 2q32.1 loss 1 - Pinto, 2010
AutCNV0002406 2 2q32.1 gain 1 - Pinto, 2010
AutCNV0002407 2 2q32.3 loss 1 - Pinto, 2010
AutCNV0002408 2 2q32.3 loss 1 - Pinto, 2010
AutCNV0002409 2 2q32.3 loss 1 - Pinto, 2010
AutCNV0002410 2 2q32.3 loss 1 - Pinto, 2010
AutCNV0002411 2 2q34 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


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