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:All ( 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
AutCNV0004227 3 3q13.31 loss 1 - CNVs Only Present In Patients; Sanders, 2011
AutCNV0004228 3 3q21.2 gain 1 - Overlapping/Recurrent CNVs; Sanders, 2011
AutCNV0004229 3 3q21.2 gain 1 - Overlapping/Recurrent CNVs; Sanders, 2011
AutCNV0004230 3 3q26.1 loss 1 - Overlapping/Recurrent CNVs; Sanders, 2011
AutCNV0004231 3 3q26.1 loss 1 - Overlapping/Recurrent CNVs; Sanders, 2011
AutCNV0004232 3 3q27.2 loss 1 - CNVs Only Present In Patients; Sanders, 2011
AutCNV0004233 3 3q29 loss 1 - CNVs Only Present In Patients; Sanders, 2011
AutCNV0004234 4 4p16.2-p16.3 gain 1 - CNVs Only Present In Patients; Sanders, 2011
AutCNV0004235 4 4p16.1 loss 1 - CNVs Only Present In Patients; Sanders, 2011
AutCNV0004236 4 4q13.1 loss 1 - Overlapping/Recurrent CNVs; Sanders, 2011
AutCNV0004237 4 4q22.1-q22.2 gain 1 - CNVs Only Present In Patients; Sanders, 2011
AutCNV0004238 4 4q31.22 loss 1 - CNVs Only Present In Patients; Sanders, 2011
AutCNV0004239 4 4q32.1 gain 1 - CNVs Only Present In Patients; Sanders, 2011
AutCNV0004240 4 4q35.1 gain 1 - CNVs Only Present In Patients; Sanders, 2011
AutCNV0004241 5 5p15.2-p15.33 loss 1 - Overlapping/Recurrent CNVs; Sanders, 2011
AutCNV0004242 5 5p15.2 loss 1 - Overlapping/Recurrent CNVs; Sanders, 2011
AutCNV0004243 5 5p15.2 loss 1 - Overlapping/Recurrent CNVs; Sanders, 2011
AutCNV0004244 5 5p14.2-p14.3 loss 1 - CNVs Only Present In Patients; Sanders, 2011
AutCNV0004245 5 5q12.2 loss 1 - CNVs Only Present In Patients; Sanders, 2011
AutCNV0004246 5 5q23.3 gain 1 - CNVs Only Present In Patients; Sanders, 2011
AutCNV0004247 5 5q33.1 loss 1 - CNVs Only Present In Patients; Sanders, 2011
AutCNV0004248 5 5q35.2-q35.3 loss 1 - CNVs Only Present In Patients; Sanders, 2011
AutCNV0004249 6 6p25.3 gain 1 - de novo CNVs; Sanders, 2011
AutCNV0004250 6 6p23 loss 1 - CNVs Only Present In Patients; Sanders, 2011
AutCNV0004251 6 6p21.32 loss 1 - de novo CNVs; Sanders, 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