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
AutCNV0000277 22 22q13 gain 1 - CNVs Only Present In Patients; Wassink, 2001
AutCNV0000278 Y Yq11.21 gain 1 - CNVs Only Present In Patients; Wassink, 2001
AutCNV0000279 15 15q11.2-13 gain 1 - CNVs Only Present In Patients; Wassink, 2007
AutCNV0000280 15 15q11-13 gain 1 0 CNVs Only Present In Patients; Bolton, 2004
AutCNV0000281 3 3q29 loss 1 - CNVs Only Present In Patients; Willatt, 2005
AutCNV0000282 22 22q13 loss 1 - de novo CNVs; Prasad, 2000
AutCNV0000283 13 13q34 gain 1 - CNVs Only Present In Patients; Bella, 2006
AutCNV0000284 15 15q11-13 gain 3 - Overlapping/Recurrent CNVs; Wolpert, 2000
AutCNV0000285 15 15q11-13 gain 3 - de novo CNVs; Sahoo, 2005
AutCNV0000286 15 15q11-13 gain 1 - CNVs Only Present In Patients; Sahoo, 2005
AutCNV0000287 15 15p11-q13 gain 4 - Overlapping/Recurrent CNVs; Sahoo, 2005
AutCNV0000288 15 15p11-q13 gain 1 - CNVs Only Present In Patients; Sahoo, 2005
AutCNV0000289 5 5p14.2-15.1 gain 1 - CNVs Only Present In Patients; Keller, 2003
AutCNV0000290 15 15q11-13 gain 1 - CNVs Only Present In Patients; Keller, 2003
AutCNV0000291 15 15q22-23 loss 1 - CNVs Only Present In Patients; Smith, 2000
AutCNV0000292 15 15q25-26.3 gain 1 - CNVs Only Present In Patients; Bonati, 2005
AutCNV0000293 17 17p11.2 gain 1 - CNVs Only Present In Patients; Nakamine, 2008
AutCNV0000294 20 20pter-12.2 loss 1 - CNVs Only Present In Patients; Sauter, 2003
AutCNV0000295 20 20p11.22-11.23 loss 1 - CNVs Only Present In Patients; Michaelis, 1997
AutCNV0000296 22 22q13.3 loss 1 - de novo CNVs; Goizet, 2000
AutCNV0000297 15 15q11-12 gain 1 - CNVs Only Present In Patients; Mann, 2004
AutCNV0000298 15 15q11-12 gain 1 - CNVs Only Present In Patients; Mann, 2004
AutCNV0000299 X Xp22 loss 1 - de novo CNVs; Thomas, 1999
AutCNV0000300 X Xp22 loss 1 - de novo CNVs; Thomas, 1999
AutCNV0000301 X Xp22 loss 1 - de novo CNVs; Thomas, 1999

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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