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
AutCNV0001575 1 1q43 gain 1 - Pinto, 2010
AutCNV0001576 1 1q43 gain 1 - Pinto, 2010
AutCNV0001577 1 1q43 loss 1 - Pinto, 2010
AutCNV0001578 1 1q43 loss 1 - Pinto, 2010
AutCNV0001579 1 1q44 loss 1 - Pinto, 2010
AutCNV0002235 1 1p36.13 loss 1 - Pinto, 2010
AutCNV0002236 1 1p33 gain 1 - Pinto, 2010
AutCNV0002237 1 1q44 loss 1 - Pinto, 2010
AutCNV0002302 1 1p13.2 loss 1 - Pinto, 2010
AutCNV0002309 1 1p36.33 gain 1 - Pinto, 2010
AutCNV0002310 1 1p36.32 loss 1 - Pinto, 2010
AutCNV0002311 1 1p36.31 gain 1 - Pinto, 2010
AutCNV0002312 1 1p36.23 loss 1 - Pinto, 2010
AutCNV0002313 1 1p36.22 gain 1 - Pinto, 2010
AutCNV0002314 1 1p36.22 loss 1 - Pinto, 2010
AutCNV0002315 1 1p36.13 loss 1 - Pinto, 2010
AutCNV0002316 1 1p36.13 loss 1 - Pinto, 2010
AutCNV0002317 1 1p36.13 loss 1 - Pinto, 2010
AutCNV0002318 1 1p36.13 loss 1 - Pinto, 2010
AutCNV0002319 1 1p36.13 loss 1 - Pinto, 2010
AutCNV0002320 1 1p36.11 gain 1 - Pinto, 2010
AutCNV0002321 1 1p34.3 loss 1 - Pinto, 2010
AutCNV0002322 1 1p33 gain 1 - Pinto, 2010
AutCNV0002323 1 1p33 gain 1 - Pinto, 2010
AutCNV0002324 1 1p32.2 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