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
AutCNV0000302 X Xp11.22 loss 2 - Overlapping/Recurrent CNVs; Qiao, 2008
AutCNV0000303 18 18q12 loss 1 - de novo CNVs; Gilling, 2008
AutCNV0000304 15 15q13.2-13.3 gain 1 - de novo CNVs; Miller, 2009
AutCNV0000305 15 15q13.2-13.3 gain 2 - Overlapping/Recurrent CNVs; Miller, 2009
AutCNV0000306 1 1q25.1 gain 6 0 Overlapping/Recurrent CNVs; Glessner, 2009
AutCNV0000307 2 2p24.3 gain 33 7 Overlapping/Recurrent CNVs; Glessner, 2009
AutCNV0000308 3 3p26.1 loss 15 3 Overlapping/Recurrent CNVs; Glessner, 2009
AutCNV0000309 3 3q21.1 gain 3 0 Overlapping/Recurrent CNVs; Glessner, 2009
AutCNV0000310 3 3q26.31 gain 114 92 Overlapping/Recurrent CNVs; Glessner, 2009
AutCNV0000311 4 4q31.21 gain 10 2 Overlapping/Recurrent CNVs; Glessner, 2009
AutCNV0000312 6 6q26 loss 7 0 Overlapping/Recurrent CNVs; Glessner, 2009
AutCNV0000313 7 7p14.3 gain 4 0 Overlapping/Recurrent CNVs; Glessner, 2009
AutCNV0000314 10 10q23.2 loss 14 3 Overlapping/Recurrent CNVs; Glessner, 2009
AutCNV0000315 1 1p35.1 loss 1 - CNVs Only Present In Patients; Cusco, 2008
AutCNV0000316 1 1q41 loss 1 - CNVs Only Present In Patients; Cusco, 2008
AutCNV0000317 2 2q33.3 gain 1 - CNVs Only Present In Patients; Cusco, 2008
AutCNV0000318 3 3q21.3 gain 1 - CNVs Only Present In Patients; Cusco, 2008
AutCNV0000319 3 3q22.3 gain 1 - CNVs Only Present In Patients; Cusco, 2008
AutCNV0000320 4 4q26 gain 1 - CNVs Only Present In Patients; Cusco, 2008
AutCNV0000321 5 5q35.3 gain 1 - CNVs Only Present In Patients; Cusco, 2008
AutCNV0000322 7 7q11.22 gain 1 - CNVs Only Present In Patients; Cusco, 2008
AutCNV0000323 7 7q31.33-32.1 gain 1 - CNVs Only Present In Patients; Cusco, 2008
AutCNV0000324 11 11q14.1 loss 1 - CNVs Only Present In Patients; Cusco, 2008
AutCNV0000325 13 13q14.11 gain 1 - CNVs Only Present In Patients; Cusco, 2008
AutCNV0000326 18 18q12.1 gain 1 - CNVs Only Present In Patients; Cusco, 2008

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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