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:21 ( 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
AutCNV0002210 21 21q22.12 gain 1 - Pinto, 2010
AutCNV0002211 21 21q22.13 gain 1 - Pinto, 2010
AutCNV0002212 21 21q22.3 gain 1 - Pinto, 2010
AutCNV0002294 21 21q22.11 gain 1 - Pinto, 2010
AutCNV0002995 21 21q11.2 gain 1 - Pinto, 2010
AutCNV0002996 21 21q11.2 loss 1 - Pinto, 2010
AutCNV0002997 21 21q11.2 loss 1 - Pinto, 2010
AutCNV0002998 21 21q21.1 loss 1 - Pinto, 2010
AutCNV0002999 21 21q21.1 loss 1 - Pinto, 2010
AutCNV0003000 21 21q21.2 loss 1 - Pinto, 2010
AutCNV0003001 21 21q21.2 loss 1 - Pinto, 2010
AutCNV0003002 21 21q21.3 loss 1 - Pinto, 2010
AutCNV0003003 21 21q21.3 loss 1 - Pinto, 2010
AutCNV0003004 21 21q22.11-22.12 gain 1 - Pinto, 2010
AutCNV0003005 21 21q22.12 gain 1 - Pinto, 2010
AutCNV0003114 21 21q22.3 gain 1 - Pinto, 2010
AutCNV0003431 21 21q21.1 loss 1 - Gai, 2011
AutCNV0003432 21 21q21.1 loss 1 - CNVs Only Present In Patients; Gai, 2011
AutCNV0003433 21 21q21.3 gain 1 - CNVs Only Present In Patients; Gai, 2011
AutCNV0003434 21 21q21.3 gain 1 - CNVs Only Present In Patients; Gai, 2011
AutCNV0003435 21 21q22.11-22.12 gain 1 - CNVs Only Present In Patients; Gai, 2011
AutCNV0003436 21 21q22.3 gain 1 - CNVs Only Present In Patients; Gai, 2011
AutCNV0003437 21 21q22.3 gain 1 - CNVs Only Present In Patients; Gai, 2011
AutCNV0003438 21 21q22.3 loss 2 - Overlapping/Recurrent CNVs; Gai, 2011
AutCNV0003439 21 21q22.3 gain 1 - CNVs Only Present In Patients; Gai, 2011

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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