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:12 ( 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
AutCNV0000912 12 12p13.33 loss 1 - Pinto, 2010
AutCNV0000913 12 12q21.2 loss 1 - Pinto, 2010
AutCNV0000932 12 12q13.13 gain 1 - Pinto, 2010
AutCNV0000933 12 12q24.33 gain 1 - Pinto, 2010
AutCNV0001117 12 12p13.33 loss 1 - Pinto, 2010
AutCNV0001118 12 12p13.2 loss 1 - Pinto, 2010
AutCNV0001119 12 12p12.2 loss 1 - Pinto, 2010
AutCNV0001120 12 12q21.1 loss 1 - Pinto, 2010
AutCNV0001121 12 12q21.1 loss 1 - Pinto, 2010
AutCNV0001122 12 12q21.2 loss 1 - Pinto, 2010
AutCNV0001123 12 12q21.31 loss 1 - Pinto, 2010
AutCNV0001307 12 12q13.13 gain 1 - Pinto, 2010
AutCNV0001308 12 12q13.3 loss 1 - Pinto, 2010
AutCNV0001309 12 12q21.1 loss 1 - Pinto, 2010
AutCNV0001310 12 12q21.2 loss 1 - Pinto, 2010
AutCNV0001311 12 12q21.2-21.31 gain 1 - Pinto, 2010
AutCNV0001312 12 12q24.12-24.13 gain 1 - Pinto, 2010
AutCNV0001313 12 12q24.33 loss 1 - Pinto, 2010
AutCNV0001415 12 12p13.31 loss 1 - Pinto, 2010
AutCNV0001416 12 12p11.21 gain 1 - Pinto, 2010
AutCNV0001417 12 12p13.31 loss 1 - Pinto, 2010
AutCNV0001421 12 12p13.31 loss 1 - Pinto, 2010
AutCNV0001450 12 12q23.3 gain 1 - Pinto, 2010
AutCNV0001453 12 12p11.22 loss 1 - Pinto, 2010
AutCNV0001456 12 12p13.31 loss 1 - Pinto, 2010

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  (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