AutismKB 2.0

View CNVs/SVs


View by Evidence Type: Overlapping/Recurrent CNVs ( 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
AutCNV0000453 1 1p21.1 Gain 1 - Overlapping/Recurrent CNVs; Gregory, 2009
AutCNV0000454 1 1p21.1 Loss 1 - Overlapping/Recurrent CNVs; Gregory, 2009
AutCNV0000455 1 1p21.1 Loss 1 - Overlapping/Recurrent CNVs; Gregory, 2009
AutCNV0000456 1 1p21.1 Loss 1 - Overlapping/Recurrent CNVs; Gregory, 2009
AutCNV0000457 1 1q21-22 Gain 1 - Overlapping/Recurrent CNVs; Gregory, 2009
AutCNV0000458 1 1q21-22 Gain 1 - Overlapping/Recurrent CNVs; Gregory, 2009
AutCNV0000459 1 1q22-23.1 Gain 1 - Overlapping/Recurrent CNVs; Gregory, 2009
AutCNV0000460 1 1q23.1 Gain 1 - Overlapping/Recurrent CNVs; Gregory, 2009
AutCNV0000461 1 1q23.1 Gain 1 - Overlapping/Recurrent CNVs; Gregory, 2009
AutCNV0000462 1 1q31.1 Gain 1 - Overlapping/Recurrent CNVs; Gregory, 2009
AutCNV0000463 1 1q31.3 Loss 1 - Overlapping/Recurrent CNVs; Gregory, 2009
AutCNV0000464 1 1q32.1 Loss 1 - Overlapping/Recurrent CNVs; Gregory, 2009
AutCNV0000465 1 1q32.1 Gain 1 - Overlapping/Recurrent CNVs; Gregory, 2009
AutCNV0000466 1 1q32.1 Loss 1 - Overlapping/Recurrent CNVs; Gregory, 2009
AutCNV0000467 2 2p24.3 Gain 1 - Overlapping/Recurrent CNVs; Gregory, 2009
AutCNV0000468 2 2p16.1 Loss 1 - Overlapping/Recurrent CNVs; Gregory, 2009
AutCNV0000469 2 2p12 Gain 1 - Overlapping/Recurrent CNVs; Gregory, 2009
AutCNV0000470 2 2p11.2 Loss 1 - Overlapping/Recurrent CNVs; Gregory, 2009
AutCNV0000471 2 2q31.2 Gain 1 - Overlapping/Recurrent CNVs; Gregory, 2009
AutCNV0000472 2 2q31.2 Gain 1 - Overlapping/Recurrent CNVs; Gregory, 2009
AutCNV0000473 2 2q33.1 Loss 1 - Overlapping/Recurrent CNVs; Gregory, 2009
AutCNV0000474 2 2q34 Gain 1 - Overlapping/Recurrent CNVs; Gregory, 2009
AutCNV0000475 2 2q37.1 Gain 1 - Overlapping/Recurrent CNVs; Gregory, 2009
AutCNV0000476 2 2q37.1 Gain 1 - Overlapping/Recurrent CNVs; Gregory, 2009
AutCNV0000477 3 3p21.31 Gain 1 - Overlapping/Recurrent CNVs; Gregory, 2009

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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