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
AutCNV0000377 19 19q13.2 - - - CNVs Only Present In Patients; Significant Enriched CNVs; Zwaag, 2009
AutCNV0000378 19 19q13.2 - - - CNVs Only Present In Patients; Significant Enriched CNVs; Zwaag, 2009
AutCNV0000379 19 19q13.2 - - - CNVs Only Present In Patients; Significant Enriched CNVs; Zwaag, 2009
AutCNV0000380 19 19q13.42 - - - CNVs Only Present In Patients; Significant Enriched CNVs; Zwaag, 2009
AutCNV0000381 19 19q13.42 - - - CNVs Only Present In Patients; Significant Enriched CNVs; Zwaag, 2009
AutCNV0000382 22 22q12.3 - - - CNVs Only Present In Patients; Significant Enriched CNVs; Zwaag, 2009
AutCNV0000383 22 22q13.2 - - - CNVs Only Present In Patients; Significant Enriched CNVs; Zwaag, 2009
AutCNV0000384 22 22q13.2 - - - CNVs Only Present In Patients; Significant Enriched CNVs; Zwaag, 2009
AutCNV0000385 22 22q13.33 - - - CNVs Only Present In Patients; Significant Enriched CNVs; Zwaag, 2009
AutCNV0000386 22 22q13.33 - - - CNVs Only Present In Patients; Significant Enriched CNVs; Zwaag, 2009
AutCNV0000387 X Xp11.4 gain 1 - CNVs Only Present In Patients; Noor, 2009
AutCNV0000388 8 8p23.1 loss 12 8 Overlapping/Recurrent CNVs; Significant Enriched CNVs; Cho, 2009
AutCNV0000389 17 17p11.2 loss 4 0 Overlapping/Recurrent CNVs; Significant Enriched CNVs; Cho, 2009
AutCNV0000390 1 1q21.1 loss 2 - Overlapping/Recurrent CNVs; de novo CNVs; Mefford, 2008
AutCNV0000391 2 2p25.2 loss 1 - de novo CNVs; Lo-Castro, 2009
AutCNV0000392 22 22q11.2 gain 1 - CNVs Only Present In Patients; Ramelli, 2008
AutCNV0000393 15 15q13.3 loss 3 - Overlapping/Recurrent CNVs; Pagnamenta, 2009
AutCNV0000394 3 3q24 loss - - Other; Morrow, 2008
AutCNV0000395 4 4q38.3 loss - - Other; Morrow, 2008
AutCNV0000396 3 3p12.3 loss - - Other; Morrow, 2008
AutCNV0000397 2 2q24.3 loss - - Other; Morrow, 2008
AutCNV0000398 6 6p21.2 loss - - Other; Morrow, 2008
AutCNV0000399 15 15q11.2 gain 3 0 CNVs Only Present In Patients; van der Zwaag, 2009
AutCNV0000400 1 1q42.2 gain 2 1577 CNVs Not Present In Control; Crepel, 2009
AutCNV0000401 1 1q21-22 Gain 1 - Overlapping/Recurrent CNVs; Gregory, 2009

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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