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
AutCNV0001377 X Xq21.32 loss 1 - Pinto, 2010
AutCNV0001378 X Xq21.33 loss 1 - Pinto, 2010
AutCNV0001379 X Xq22.2 gain 1 - Pinto, 2010
AutCNV0001380 X Xq23 gain 1 - Pinto, 2010
AutCNV0001381 X Xq23 gain 1 - Pinto, 2010
AutCNV0001382 X Xq26.3 gain 1 - Pinto, 2010
AutCNV0001383 X Xq26.3 gain 1 - Pinto, 2010
AutCNV0001384 X Xq27.2 gain 1 - Pinto, 2010
AutCNV0001385 X Xq27.2 loss 1 - Pinto, 2010
AutCNV0001386 X Xq28 gain 1 - Pinto, 2010
AutCNV0001387 X Xq28 gain 1 - Pinto, 2010
AutCNV0001388 1 1p36.13 loss 1 - Pinto, 2010
AutCNV0001389 1 1p36.13 loss 1 - de novo CNVs; Pinto, 2010
AutCNV0001390 2 2p22.3 gain 1 - Pinto, 2010
AutCNV0001391 4 4q13.2 loss 1 - Pinto, 2010
AutCNV0001392 7 7p22.3 gain 1 - Pinto, 2010
AutCNV0001393 7 7p14.3 gain 1 - Pinto, 2010
AutCNV0001394 10 10p13 gain 1 - Pinto, 2010
AutCNV0001395 15 15q15.3 loss 1 - Pinto, 2010
AutCNV0001396 15 15q15.3 loss 1 - Pinto, 2010
AutCNV0001397 6 6q26 loss 1 - Pinto, 2010
AutCNV0001398 9 9p21.3 loss 1 - Pinto, 2010
AutCNV0001399 3 3p22.3 gain 1 - Pinto, 2010
AutCNV0001400 11 11q13.2 gain 1 - Pinto, 2010
AutCNV0001401 8 8q11.21 gain 1 - de novo CNVs; Pinto, 2010

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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