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
AutCNV0000402 1 1q44 Gain 1 - Overlapping/Recurrent CNVs; Gregory, 2009
AutCNV0000403 2 2p11.2 Loss 3 - Overlapping/Recurrent CNVs; Gregory, 2009
AutCNV0000404 2 2p11.2 Loss 1 - Overlapping/Recurrent CNVs; Gregory, 2009
AutCNV0000405 2 2p11.2 Gain 1 - Overlapping/Recurrent CNVs; Gregory, 2009
AutCNV0000406 2 2p11.2 Gain 1 - Overlapping/Recurrent CNVs; Gregory, 2009
AutCNV0000407 2 2p11.2 Gain 1 - Overlapping/Recurrent CNVs; Gregory, 2009
AutCNV0000408 2 2p11.2 Loss 1 - Overlapping/Recurrent CNVs; Gregory, 2009
AutCNV0000409 2 2q24.1-24.3 Loss 1 - Overlapping/Recurrent CNVs; Gregory, 2009
AutCNV0000410 2 2q32.1 Gain 1 - Overlapping/Recurrent CNVs; Gregory, 2009
AutCNV0000411 3 3p25.3 Loss 1 - Overlapping/Recurrent CNVs; Gregory, 2009
AutCNV0000412 3 3p22.1 Loss 1 - Overlapping/Recurrent CNVs; Gregory, 2009
AutCNV0000413 6 6q27 Loss 1 - Overlapping/Recurrent CNVs; Gregory, 2009
AutCNV0000414 10 10p15.3 Loss 1 - Overlapping/Recurrent CNVs; Gregory, 2009
AutCNV0000415 10 10q11.21-11.22 Gain 1 - Overlapping/Recurrent CNVs; Gregory, 2009
AutCNV0000416 10 10q11.21-11.22 Gain 1 - Overlapping/Recurrent CNVs; Gregory, 2009
AutCNV0000417 10 10q11.21-11.22 Gain 1 - Overlapping/Recurrent CNVs; Gregory, 2009
AutCNV0000418 10 10q11.21-11.22 Gain 1 - Overlapping/Recurrent CNVs; Gregory, 2009
AutCNV0000419 10 10q11.21-11.22 Gain 1 - Overlapping/Recurrent CNVs; Gregory, 2009
AutCNV0000420 10 10q11.21-11.22 Loss 1 - Overlapping/Recurrent CNVs; Gregory, 2009
AutCNV0000421 11 11p15.4 Loss 1 - Overlapping/Recurrent CNVs; Gregory, 2009
AutCNV0000422 14 14q32.33 Loss 3 - Overlapping/Recurrent CNVs; Gregory, 2009
AutCNV0000423 14 14q32.33 Loss 1 - Overlapping/Recurrent CNVs; Gregory, 2009
AutCNV0000424 15 15q13.1 Loss 1 - Overlapping/Recurrent CNVs; Gregory, 2009
AutCNV0000425 15 15q13.1 Gain 1 - Overlapping/Recurrent CNVs; Gregory, 2009
AutCNV0000426 15 15q13.1-13.2 Loss 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