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
AutCNV0003772 21 21q21.1 loss 1 - CNVs Only Present In Patients; Gai, 2011
AutCNV0003773 21 21q21.1 loss 1 - CNVs Only Present In Patients; Gai, 2011
AutCNV0003774 21 21q21.1 loss 1 - CNVs Only Present In Patients; Gai, 2011
AutCNV0003775 21 21q21.1 loss 1 - CNVs Only Present In Patients; Gai, 2011
AutCNV0003776 21 21q22.11-22.12 gain 1 - CNVs Only Present In Patients; Gai, 2011
AutCNV0003777 21 21q22.11-22.12 gain 1 - CNVs Only Present In Patients; Gai, 2011
AutCNV0004022 21 21q22.11 loss 1 - CNVs Only Present In Patients; Levy, 2011
AutCNV0004023 21 21q22.2 gain 1 - CNVs Only Present In Patients; Levy, 2011
AutCNV0004180 21 21q21.3 gain 1 1 CNVs Only Present In Patients; Levy, 2011
AutCNV0004181 21 21q22.3 gain 1 1 CNVs Only Present In Patients; Levy, 2011
AutCNV0004386 21 21q21.1 loss 1 - CNVs Only Present In Patients; Sanders, 2011
AutCNV0004387 21 21q22.3 gain 1 - CNVs Only Present In Patients; Sanders, 2011
AutCNV0004411 21 21q22.3 gain - - CNVs Only Present In Patients; Nord, 2011
AutCNV0004431 21 21q22.3 gain - - CNVs Only Present In Patients; Nord, 2011
AutCNV0004491 21 21q21.1 loss - - CNVs Only Present In Patients; Nord, 2011
AutCNV0004910 21 21q22.3 gain - - CNVs Only Present In Patients; Castronovo C, 2015
AutCNV0004915 21 - - - - de novo CNVs; Tammimies K, 2015
AutCNV0005167 21 21q21.1q21.2 loss 1 - CNVs Only Present In Patients; Scholz C, 2016
AutCNV0005636 21 21 - - - de novo CNVs; Krumm N, 2015
AutCNV0005674 21 21 - - - Krumm N, 2015
AutCNV0005860 21 21q22.11 Gain - - Egger G, 2014
AutCNV0005864 21 - Loss - - de novo CNVs; Deciphering Developmental Disorders Study., 2015

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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