AutismKB 2.0

View CNVs/SVs


View by Evidence Type: CNVs Only Present In Patients ( 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
AutCNV0000256 7 7q11.23 loss 1 - CNVs Only Present In Patients; Edelmann, 2007
AutCNV0000258 15 15q11-13 gain 1 - CNVs Only Present In Patients; Silva, 2002
AutCNV0000261 2 2q32.1-32.3 loss 1 - CNVs Only Present In Patients; Gallagher, 2003
AutCNV0000262 2 2q33.3-35 loss 1 - CNVs Only Present In Patients; Pescucci, 2003
AutCNV0000263 4 4p12-13 gain 1 - CNVs Only Present In Patients; Sabaratnam, 2000
AutCNV0000264 8 8p21-23 gain 1 - CNVs Only Present In Patients; Papanikolaou, 2006
AutCNV0000265 13 13q12-13 loss 1 - CNVs Only Present In Patients; Smith, 2002
AutCNV0000266 13 13q14-22 loss 1 - CNVs Only Present In Patients; Steele, 2001
AutCNV0000269 22 22q11 loss 1 - CNVs Only Present In Patients; Roubertie, 2001
AutCNV0000270 22 22q11 loss 1 - CNVs Only Present In Patients; Niklasson, 2002
AutCNV0000271 8 8p23 loss 1 - CNVs Only Present In Patients; Wassink, 2001
AutCNV0000273 15 15q11.2-13 gain 1 - CNVs Only Present In Patients; Wassink, 2001
AutCNV0000274 15 15q22 loss 1 - CNVs Only Present In Patients; Wassink, 2001
AutCNV0000275 16 16q13-22 loss 1 - CNVs Only Present In Patients; Wassink, 2001
AutCNV0000276 17 17q23 gain 1 - CNVs Only Present In Patients; Wassink, 2001
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
AutCNV0000283 13 13q34 gain 1 - CNVs Only Present In Patients; Bella, 2006
AutCNV0000286 15 15q11-13 gain 1 - CNVs Only Present In Patients; 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

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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