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21q11.2CNV Type: Deletion-Duplication


Largest CNV size: 539105 bp

Statistics Box:
Number of Reports: 10


Summary Information

Summary statement in development

Additional Locus Information

Genome browsers

USCS Symbol             NCBI Symbol

Decipher

            Decipher Symbol

References

Major Reports

Title
Author, Year
Report Class
CNV Type
Functional impact of global rare copy number variation in autism spectrum disorders.
Deletion-Duplication

Minor Reports

Title
Author, Year
Report Class
CNV Type
Multiple recurrent de novo CNVs, including duplications of the 7q11.23 Williams syndrome region, are strongly associated with autism.
Deletion-Duplication
SHANK1 Deletions in Males with Autism Spectrum Disorder.
Duplication
A discovery resource of rare copy number variations in individuals with autism spectrum disorder.
Duplication
Global increases in both common and rare copy number load associated with autism.
Duplication
Both rare and de novo copy number variants are prevalent in agenesis of the corpus callosum but not in cerebellar hypoplasia or polymicrogyria.
Deletion-Duplication
Performance of case-control rare copy number variation annotation in classification of autism.
Deletion-Duplication
Genome-wide analysis of copy number variations identifies PARK2 as a candidate gene for autism spectrum disorder.
Deletion-Duplication
NA
Duplication
NA
Duplication

Cases

Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
 digregorio_17_DD/ID_discovery_cases
  NA NA
 Consecutive cases examined in the Medical Genetics Unit at the "Citta della Salte e della Scienza" University Hospital (Turin, Italy) from 2008 to 2014 (cases with CNVs are present in DECIPHER database)
 1015
 Cases diagnosed with idiopathic developmental delay and/or intellectual disability (DD/ID)
 N/A
 N/A
 353000
 0
 1
 1
 engchuan_15_ASD_discovery_cases
 Samples from the Autism Genome Project (AGP)
 1892
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 N/A
 85.78% Male
 803231
 5
 7
 12
 girirajan_13b_ASD_discovery_cases
 Children with autism ascertained from the Childhood Autism Risks from Genetics and Environment (CHARGE) study conducted through the Medical Investigation of Neurodevelopmental Disorders (MIND) Institute at UC-Davis after passing QC criteria (274 initial cases)
 243
 Diagnosis of autism confirmed by ADOS and ADI-R. Exclusion criteria: children with developmental delay but lacking symptoms and autism, as well as children with ASD as defined by the CHARGE protocol
 N/A
 N/A
 358154
 0
 2
 2
 maini_18_ASD/DD/ID_discovery_cases
  NA NA
 Patients evaluated at the Clinical Genetics Unit of Arcispedale Santa Maria Nuova, AUSL-IRCCS of Reggio Emilia that were investigated through aCGH between 2005 and 2016
 293
 Cases presented with one or more neurodevelopmental disorders (NDD), multiple congenital anomalies (MCA), and/or dysmorphic features. Most frequent neurodevelopmental diagnoses include language delay (78.5%), intellectual disability (66.4%), motor delay (50.7%), and ASD (13.9%); dysmorphic features were also frequently observed (52.7%)
 Mean age, 7 yrs. (range, 1 mo.-29 yrs.)
 57.5% Male
 133000
 0
 1
 1
 pinto_10_ASD_discovery_cases
 Autism Genome Project (AGP) consortium patient cohort from families with at least two ASD individuals
 996
 ASD (ADI-R and ADOS): strict, broad, or spectrum ASD
 
 
 466022
 1
 1
 2
 prasad_12_ASD_discovery_cases
 Unrelated ASD cases recruited from three Canadian sites (Hospital for Sick Children, McMaster University, and Memorial University of Newfoundland); the majority of cases had been previously genotyped with results published in Marshall et al., 2008 and Pinto et al., 2010. 20 cases from initial cohort of 696 were excluded from further analysis (due to CNVs > 5 Mb).
 676
 Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS
 NA
 82.84% Male
 9196
 0
 1
 1
 sajan_13_ACC/CBLH/PMG_discovery_cases
 Individuals with severe congenital brain malformations [agenesis of the corpus callosum (ACC), cerebellar hypoplasia (CBLH), and/or polymicrogyria (PMG)] and additional neurodevelopmental phenotypes
 487
 Diagnosis of agenesis of the corpus callosum (ACC), cerebellar hypoplasia (CBLH), and/or polymicrogyria (PMG); additional diagnoses of autism spectrum disorder (ASD), developmental delay (DD), intellectual disability (ID) and/or seizures in some patients
 N/A
 N/A
 81558
 1
 5
 6
 sanders_11_ASD_discovery_cases
 Autistic probands from the Simons Simplex Collection (SSC). 872 probands in quartet families, 272 probands in trios.
 1124
 ASD diagnosis: 89.5% autism; 8.5% PDD-NOS, 2% Asperger syndrome. Mean full-scale IQ 85.1 1.5 (mean verbal IQ, 81.9 1.7; mean non-verbal IQ, 88.4 1.4)
 Mean, 9.1 yrs.
 86.1% Male
 539105
 6
 10
 16
 sato_12_ASD_discovery_cases_2
 Three additional affected males from four-generation family with ASD/BAP
 3
 Two cases diagnosed with Asperger syndrome, 1 case with broader autism phenotype
 Range, 5 yrs. 8 mos.-95 yrs.
 100% Male
 299951
 0
 1
 1
 yin_16_ASD_discovery_cases
 Discovery cohort of ASD cases recruited from the Department of Psychiatry of National Taiwan University Hospital (NTUH), Chang Gung Memorial Hospital (CGMH), Taoyuan, and Taoyuan Mental Hospital (TMH), Taiwan.
 335
 Cases diagnosed with autistic disorder according to DSM-IV and confirmed by using the Chinese version of ADI-R. Cases' autistic behaviors assessed by Social Responsiveness Scale (SRS), and cognitive functions assessed by the Weschler Intelligence Scale for Children-Third Edition (WISC-III) and the Wisconsin Card Sorting Test (WCST).
 Mean, 9.39 4.04 yrs.
 89.3% Male
 137820
 1
 10
 11

Controls

Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
 engchuan_15_ASD_discovery_controls
 Platform-matched controls from three large studies: SAGE (Study of Addiction Genetics and Environment), Ontario Colorectal Cancer study, and HABC (Health Aging and Body Composition)
 2342
 Controls; subjects had no previous psychiatric history
 N/A
 46.67% Male
 794314
 12
 1
 13
 girirajan_13b_ASD_discovery_controls
 Controls ascertained from the Childhood Autism Risks from Genetics and Environment (CHARGE) study conducted through the Medical Investigation of Neurodevelopmental Disorders (MIND) Institute at UC-Davis after passing QC criteria (242 initial controls)
 223
 Control
 N/A
 N/A
 358154
 0
 1
 1
 prasad_12_ASD_discovery_controls
 PDx controls [1000 DNA samples from reportedly healthy donors (50.2% male) from BioServe (Beltsville, MD)] and 4139 in-house controls previously reported in Krawcak et al. 2006, Stewart et al. 2009, and Bierut et al. 2010. CNVs identified in controls were used to define rare ASD-specific CNVs.
 5139
 Control
 NA
 NA (PDx controls 50.2% male)
 9196
 0
 0
 0
 sanders_11_ASD_discovery_controls
 Matched siblings of autistic probands from the Simons Simplex Collection (SSC).
 872
 Controls
 Mean, 10.0 yrs.
 
 512988
 9
 10
 19
 yin_16_ASD_discovery_controls
 Individuals from the Han Chinese Cell and Genome Bank (HCCGB) in Taiwan
 1093
 Controls
 Mean, 68.07 10.12 yrs.
 48.0% Male
 137820
 0
 0
 0

Cases

Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
 digregorio_17_DD/ID_discovery_cases
  Italian
 aCGH
  Agilent 60K (SurePrint G3 Human CGH Microarray 8x60K)
 ADM-2
 Agilent CGH Analytics software ver. 4.0.81
 None
 engchuan_15_ASD_discovery_cases
  Caucasian
 Solid phase hybridization
  Illumina 1M
 
 
 None
 girirajan_13b_ASD_discovery_cases
  133 European, 57 Hispanic, 27 Mixed Race, 20 Asian, 6 African-American
 aCGH
  Roche NimbleGen custom targeted hotspot array comprised of 135,000 probes with higher density probe coverage in genomic hotspots (regions flanked by segmental duplications)
 DNA Copy Number v1.6
 
 None
 maini_18_ASD/DD/ID_discovery_cases
  Italian
 aCGH, array SNP
  Multiple platforms, including Agilent and Affymetrix arrays (8x60K oligochips since 2012)
 
 
 None
 pinto_10_ASD_discovery_cases
  European
 Solid phase hybridization
  Illumina Infinium 1M SNP microarray
 QuantiSNP, iPattern
 
 qPCR, long-range PCR (LR-PCR), MLPA, FISH, aCGH (Agilent 1M), array SNP (Affymetrix 500K)
 prasad_12_ASD_discovery_cases
  Canada
 aCGH
  Agilent 1M
 ADM-2, DNAcopy (R Bioconductor)
 DNA Analytics v4.0.85 (Agilent), DNAcopy
 None
 sajan_13_ACC/CBLH/PMG_discovery_cases
  81.31% Caucasian
 Solid phase hybridization
  Illumina InfiniumII HumanHap610
 PennCNV
 
 None (not tested or failure to confirm by qPCR)
 sanders_11_ASD_discovery_cases
  White non-Hispanic, 74.5%; mixed, 9.3%, Asian, 4.3%, White Hispanic, 4.0%, African-American, 3.8%; other, 4.2&
 Solid phase hybridization
  Illumina 1M v1, Illumina 1M v3
 PennCNV, QuantiSNP, GNOSIS
 
 
 sato_12_ASD_discovery_cases_2
  Canadian
 aCGH
  Agilent SurePrint G3 Human CGH 1x1M
 DNA Analytics, CBS/DNAcopy
 
 None
 yin_16_ASD_discovery_cases
  Han Chinese
 Array SNP
  Affymetrix 6.0
 
 Affymetrix Genotyping Console v.4.1
 None

Controls

Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
  engchuan_15_ASD_discovery_controls
  Caucasian
  Solid phase hybridization
  Illumina 1M
 
 
  None
  girirajan_13b_ASD_discovery_controls
  116 European, 70 Hispanic, 27 Mixed Race, 7 Asian, 3 African-American
  aCGH
  Roche NimbleGen custom targeted hotspot array comprised of 135,000 probes with higher density probe coverage in genomic hotspots (regions flanked by segmental duplications)
  DNA Copy Number v1.6
 
 
  prasad_12_ASD_discovery_controls
  NA
  aCGH
  Agilent 1M
  ADM-2, DNAcopy (R Bioconductor)
  DNA Analytics v4.0.85 (Agilent), DNAcopy
 
  sanders_11_ASD_discovery_controls
 
  Solid phase hybridization
  Illumina 1M v1 or Illumina 1M v3
  PennCNV, QuantiSNP, GNOSIS
 
 
  yin_16_ASD_discovery_controls
  Han Chinese
  Array SNP
  Affymetrix 6.0
 
  Affymetrix Genotyping Console v.4.1
  None

Cases

Patient ID
Author, Year
Age
Gender
Primary Diagnosis
Clinical Profile
Cognitive Profile
CNV Start
CNV End
CNV Size
Genome Build
Type Method
Validation
  digregorio_17_DD/ID_discovery_cases-DECIPHER_300373
  NA NA
 N/A
 F
 Developmental delay/intellectual disability
 
 
 14000131
 14353556
  353426
 GRCh38
 Duplication
 No
  engchuan_15_ASD_discovery_cases-case13031_403
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 13229094
 13622952
  393859
 GRCh38
 Deletion
 No
  engchuan_15_ASD_discovery_cases-case13054_643
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 13222943
 13605417
  382475
 GRCh38
 Deletion
 No
  engchuan_15_ASD_discovery_cases-case13086_1013
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 13190193
 13656214
  466022
 GRCh38
 Duplication
 No
  engchuan_15_ASD_discovery_cases-case14249_3730
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 13190193
 13656214
  466022
 GRCh38
 Duplication
 No
  engchuan_15_ASD_discovery_cases-case16095_1571145001
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 13166752
 13969983
  803232
 GRCh38
 Duplication
 No
  engchuan_15_ASD_discovery_cases-case1868_301
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 13190193
 13656214
  466022
 GRCh38
 Duplication
 No
  engchuan_15_ASD_discovery_cases-case1974_302
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 13196996
 13656214
  459219
 GRCh38
 Deletion
 No
  engchuan_15_ASD_discovery_cases-case20090_1392002
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 13229094
 13568131
  339038
 GRCh38
 Deletion
 No
  engchuan_15_ASD_discovery_cases-case3571_4
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 13222943
 13635224
  412282
 GRCh38
 Duplication
 No
  engchuan_15_ASD_discovery_cases-case4321_1
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 13229094
 13605417
  376324
 GRCh38
 Deletion
 No
  engchuan_15_ASD_discovery_cases-case4344_1
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 13005559
 13439418
  433860
 GRCh38
 Duplication
 No
  engchuan_15_ASD_discovery_cases-case8421_201
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 13222943
 13622952
  400010
 GRCh38
 Duplication
 No
  girirajan_13b_ASD_discovery_cases-14909111141
 N/A
 N/A
 Autism
 Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Caucasian
 N/A
 13223203
 13581357
  358155
 GRCh38
 Duplication
 No
  girirajan_13b_ASD_discovery_cases-63205104572
 N/A
 N/A
 Autism
 Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Caucasian
 N/A
 13223203
 13581357
  358155
 GRCh38
 Duplication
 No
  maini_18_ASD/DD/ID_discovery_cases-case_unknown116
  NA NA
 N/A
 N/A
 NDD/MCA/dysmorphic features
 CNV was identified in an individual with one or more neurodevelopmental disorders (NDD), multiple congenital anomalies (MCA), and/or dysmorphic features (detailed clinical information was not available). CNV classified as variant of unknown significance-likely benign (VOUS-LB)
 
 14632016
 14765439
  133424
 GRCh38
 Duplication
 No
  pinto_10_ASD_discovery_cases-case1868_301
 NA
 F
 ASD
 NA
 NA
 13190193
 13656214
  466022
 GRCh38
 Duplication
 Yes
  pinto_10_ASD_discovery_cases-case1974_302
 NA
 M
 ASD
 NA
 NA
 13196996
 13656214
  459219
 GRCh38
 Deletion
 Yes
  prasad_12_ASD_discovery_cases-case134102
 NA
 M
 ASD
 Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
 
 14467265
 14476460
  9196
 Unknown
 Duplication
 No
  sajan_13_ACC/CBLH/PMG_discovery_cases-case1018-0
 N/A
 N/A
 ACC
 Diagnosis of agenesis of the corpus callosum (ACC). ASD: no. Seizures: no.
 Developmental delay: yes. Intellectual disability: yes.
 13097273
 13130891
  33619
 GRCh38
 Duplication
 No
  sajan_13_ACC/CBLH/PMG_discovery_cases-case1308-0
 N/A
 N/A
 ACC
 Diagnosis of agenesis of the corpus callosum (ACC). ASD: yes. Seizures: no.
 Developmental delay: yes. Intellectual disability: yes.
 13049334
 13130891
  81558
 GRCh38
 Duplication
 No
  sajan_13_ACC/CBLH/PMG_discovery_cases-case1314-0
 N/A
 N/A
 ACC
 Diagnosis of agenesis of the corpus callosum (ACC). ASD: no. Seizures: no.
 Developmental delay: yes. Intellectual disability: unknown.
 13097273
 13130891
  33619
 GRCh38
 Duplication
 No
  sajan_13_ACC/CBLH/PMG_discovery_cases-case1450-0
 N/A
 N/A
 ACC-CBLH
 Diagnosis of agenesis of the corpus callosum (ACC) and cerebellar hypoplasia (CBLH). ASD: no. Seizures: no.
 Developmental delay: yes. Intellectual disability: unknown.
 13793448
 13843493
  50046
 GRCh38
 Deletion
 No
  sajan_13_ACC/CBLH/PMG_discovery_cases-caseLR01-044
 N/A
 N/A
 PMG
 Diagnosis of polymicrogyria (PMG).
 
 13097273
 13130891
  33619
 GRCh38
 Duplication
 No
  sajan_13_ACC/CBLH/PMG_discovery_cases-caseLR02-403
 N/A
 N/A
 CBLH
 Diagnosis of cerebellar hypoplasia (CBLH).
 
 13097273
 13130891
  33619
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-11275.p1
 14.5
 M
 Autism
 NA
 Full-scale IQ, 109; non-verbal IQ, 117; verbal IQ, 90
 13005559
 13119957
  114399
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11440.p1
 8.2
 F
 Autism
 NA
 Full-scale IQ, 101; non-verbal IQ, 90; verbal IQ, 122
 14633942
 14723057
  89116
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-11642.p1
 5.3
 M
 ASD
 NA
 Full-scale IQ, 77; non-verbal IQ, 71; verbal IQ, 88
 14295512
 14304924
  9413
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11800.p1
 13.3
 M
 Autism
 NA
 Full-scale IQ, 34; non-verbal IQ, 34; verbal IQ, 35
 13793448
 13906949
  113502
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11845.p1
 5.2
 M
 Autism
 NA
 Full-scale IQ, 47; non-verbal IQ, 56; verbal IQ, 38
 14536321
 14557852
  21532
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-11914.p1
 7.1
 M
 Autism
 NA
 Full-scale IQ, 83; non-verbal IQ, 81; verbal IQ, 91
 13871838
 13875509
  3672
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12007.p1
 8.7
 F
 Autism
 NA
 Full-scale IQ, 64; non-verbal IQ, 54; verbal IQ, 83
 13873826
 13897762
  23937
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-12009.p1
 6.8
 M
 Autism
 NA
 Full-scale IQ, 78; non-verbal IQ, 87; verbal IQ, 69
 14248070
 14286608
  38539
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-12020.p1
 17.3
 M
 Autism
 NA
 Full-scale IQ, 116; non-verbal IQ, 115; verbal IQ, 114
 13859439
 13887619
  28181
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-12048.p1
 7.2
 M
 Autism
 NA
 Full-scale IQ, 67; non-verbal IQ, 87; verbal IQ, 40
 13866755
 13875509
  8755
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-12243.p1
 12
 M
 Autism
 NA
 Full-scale IQ, 97; non-verbal IQ, 92; verbal IQ, 107
 13222943
 13762048
  539106
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-13013.p1
 8.1
 M
 Autism
 NA
 Full-scale IQ, 72; non-verbal IQ, 68; verbal IQ, 86
 14582528
 14583973
  1446
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-13016.p1
 5.5
 M
 Aspergers
 NA
 Full-scale IQ, 98; non-verbal IQ, 102; verbal IQ, 93
 13859439
 13887619
  28181
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-13083.p1
 7.5
 M
 Autism
 NA
 Full-scale IQ, 52; non-verbal IQ, 67; verbal IQ, 23
 13757057
 13906949
  149893
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-13083.p1
 7.5
 M
 Autism
 NA
 Full-scale IQ, 52; non-verbal IQ, 67; verbal IQ, 23
 13229094
 13656214
  427121
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-13104.p1
 9.8
 M
 Autism
 NA
 Full-scale IQ, 97; non-verbal IQ, 94; verbal IQ, 103
 13866755
 13897762
  31008
 GRCh38
 Duplication
 No
  sato_12_ASD_discovery_cases_2-family1caseIV-3
 5 yrs. 8 mos.
 M
 Asperger
 Diagnosis of Asperger syndrome; positive for autism on ADI-R and ASD on the ADOS. Developmental milestones: not talking at 18 months, developed single words at 24 months. Language and communication evaluation: expressive language consisted of short sentences and phrases, some echoed speech, and mild articulation difficulties; Oral and Written Language Scales (OWLS) total language score of 80 (9th %ile), receptive language score of 78 (7th %ile), and expressive language score of 86 (18th %ile); Peabody Picture Vocabulary Test (PPVT) 4th edition receptive vocabulary score of 91 (27th %ile). Behavioral/psychiatric evaluation: exhibition of repetitive behaviors; failure to offer comfort or empathy; failure to initiate social interaction, although did play with parents; had made good progress in social interaction at 5 years 8 months of age. Additional genetic evaluation: nonsense mutation in PCDHGA11 gene that segregates with SHANK1 deletion. Family history: brother with ASD/Asperger disorder; mother with diagnosis of anxiety disorder and generalized anxiety disorder (no ASD or BAP); maternal uncle with Asperger disorder; great-grandfather with BAP.
 Wechsler Preschool and Primary Scale of Intelligence (WPPSI): full-scale IQ of 89 (23rd %ile, low average range); verbal Iqof 89 (23rd %ile); performance IQ of 91 (27th %ile). Adaptive behavior scores (as determined by Vineland Adaptive Behavior Scales/VABS-II): adaptive behavior composite score of 86 (18th %ile); communication score of 91 (27th %ile); daily living skills score of 89 (23rd %ile); socialization score of 85 (16th %ile); motor score of 91 (27th %ile).
 13531237
 13831187
  299951
 GRCh38
 Duplication
 No
  yin_16_ASD_discovery_cases-case593
 N/A
 N/A
 ASD
 Cases diagnosed with autistic disorder according to DSM-IV and confirmed by using the Chinese version of ADI-R.
 
 13084083
 13221902
  137820
 GRCh38
 Deletion
 No
  yin_16_ASD_discovery_cases-case594
 N/A
 N/A
 ASD
 Cases diagnosed with autistic disorder according to DSM-IV and confirmed by using the Chinese version of ADI-R.
 
 13112088
 13221902
  109815
 GRCh38
 Duplication
 No
  yin_16_ASD_discovery_cases-case595
 N/A
 N/A
 ASD
 Cases diagnosed with autistic disorder according to DSM-IV and confirmed by using the Chinese version of ADI-R.
 
 13112088
 13221902
  109815
 GRCh38
 Duplication
 No
  yin_16_ASD_discovery_cases-case596
 N/A
 N/A
 ASD
 Cases diagnosed with autistic disorder according to DSM-IV and confirmed by using the Chinese version of ADI-R.
 
 13112088
 13221902
  109815
 GRCh38
 Duplication
 No
  yin_16_ASD_discovery_cases-case597
 N/A
 N/A
 ASD
 Cases diagnosed with autistic disorder according to DSM-IV and confirmed by using the Chinese version of ADI-R.
 
 13112088
 13221902
  109815
 GRCh38
 Duplication
 No
  yin_16_ASD_discovery_cases-case598
 N/A
 N/A
 ASD
 Cases diagnosed with autistic disorder according to DSM-IV and confirmed by using the Chinese version of ADI-R.
 
 13112088
 13221902
  109815
 GRCh38
 Duplication
 No
  yin_16_ASD_discovery_cases-case599
 N/A
 N/A
 ASD
 Cases diagnosed with autistic disorder according to DSM-IV and confirmed by using the Chinese version of ADI-R.
 
 13112088
 13221902
  109815
 GRCh38
 Duplication
 No
  yin_16_ASD_discovery_cases-case600
 N/A
 N/A
 ASD
 Cases diagnosed with autistic disorder according to DSM-IV and confirmed by using the Chinese version of ADI-R.
 
 13112088
 13221902
  109815
 GRCh38
 Duplication
 No
  yin_16_ASD_discovery_cases-case601
 N/A
 N/A
 ASD
 Cases diagnosed with autistic disorder according to DSM-IV and confirmed by using the Chinese version of ADI-R.
 
 13112088
 13221902
  109815
 GRCh38
 Duplication
 No
  yin_16_ASD_discovery_cases-case602
 N/A
 N/A
 ASD
 Cases diagnosed with autistic disorder according to DSM-IV and confirmed by using the Chinese version of ADI-R.
 
 13883095
 13913521
  30427
 GRCh38
 Duplication
 No
  yin_16_ASD_discovery_cases-case603
 N/A
 N/A
 ASD
 Cases diagnosed with autistic disorder according to DSM-IV and confirmed by using the Chinese version of ADI-R.
 
 13883095
 13913521
  30427
 GRCh38
 Duplication
 No

Controls

Patient ID
Author, Year
Age
Gender
Primary Diagnosis
Clinical Profile
Cognitive Profile
CNV Start
CNV End
CNV Size
Genome Build
Type Method
Validation
  engchuan_15_ASD_discovery_controls-control110036004554_r
  N/A
  N/A
  Control
  No previous psychiatric history
 
  13229094
  13609012
  379919
  GRCh38
  Deletion
  No
  engchuan_15_ASD_discovery_controls-control110036017267_
  N/A
  N/A
  Control
  No previous psychiatric history
 
  13223956
  13605417
  381462
  GRCh38
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlB478115_1007842238
  N/A
  N/A
  Control
  No previous psychiatric history
 
  13229094
  13605417
  376324
  GRCh38
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlB549186_1007840957
  N/A
  N/A
  Control
  No previous psychiatric history
 
  13190193
  13585652
  395460
  GRCh38
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlB748453_0067942589
  N/A
  N/A
  Control
  No previous psychiatric history
 
  13196996
  13601581
  404586
  GRCh38
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlB754625_1007874648
  N/A
  N/A
  Control
  No previous psychiatric history
 
  13176303
  13656214
  479912
  GRCh38
  Duplication
  No
  engchuan_15_ASD_discovery_controls-controlB835590_0057060979
  N/A
  N/A
  Control
  No previous psychiatric history
 
  13014683
  13808997
  794315
  GRCh38
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlB871387_1007875840
  N/A
  N/A
  Control
  No previous psychiatric history
 
  13222943
  13585652
  362710
  GRCh38
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlHABC_900395_900395
  N/A
  N/A
  Control
  No previous psychiatric history
 
  13229094
  13622952
  393859
  GRCh38
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlHABC_900887_900887
  N/A
  N/A
  Control
  No previous psychiatric history
 
  13222943
  13605124
  382182
  GRCh38
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlHABC_901219_901219
  N/A
  N/A
  Control
  No previous psychiatric history
 
  13229094
  13628014
  398921
  GRCh38
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlHABC_901225_901225
  N/A
  N/A
  Control
  No previous psychiatric history
 
  13229094
  13628014
  398921
  GRCh38
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlHABC_902525_902525
  N/A
  N/A
  Control
  No previous psychiatric history
 
  13229094
  13622952
  393859
  GRCh38
  Deletion
  No
  girirajan_13b_ASD_discovery_controls-11105103556
  N/A
  N/A
  Control
  Ethnicity: Hispanic
  N/A
  13223203
  13581357
  358155
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-11215.s1
  7.3
  M
  Control (matched sibling)
  NA
  NA
  13034381
  13097273
  62893
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11366.s1
  10.8
  M
  Control (matched sibling)
  NA
  NA
  13222943
  13656214
  433272
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11378.s1
  11.2
  M
  Control (matched sibling)
  NA
  NA
  13005559
  13097273
  91715
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11512.s1
  4.3
  F
  Control (matched sibling)
  NA
  NA
  13005559
  13119957
  114399
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11561.s1
  8.9
  M
  Control (matched sibling)
  NA
  NA
  13776312
  13907635
  131324
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11959.s1
  9.7
  F
  Control (matched sibling)
  NA
  NA
  13029743
  13130891
  101149
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-11969.s1
  17.5
  M
  Control (matched sibling)
  NA
  NA
  14582528
  14583973
  1446
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12007.s1
  10.9
  M
  Control (matched sibling)
  NA
  NA
  13859439
  13897762
  38324
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-12020.s1
  13.8
  M
  Control (matched sibling)
  NA
  NA
  13859439
  13887619
  28181
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-12243.s1
  13.5
  M
  Control (matched sibling)
  NA
  NA
  13222943
  13656214
  433272
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12656.s1
  16.3
  M
  Control (matched sibling)
  NA
  NA
  13873826
  13897762
  23937
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-12759.s1
  5.8
  F
  Control (matched sibling)
  NA
  NA
  13776312
  13915563
  139252
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12759.s1
  5.8
  F
  Control (matched sibling)
  NA
  NA
  13190193
  13703181
  512989
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12786.s1
  4.9
  M
  Control (matched sibling)
  NA
  NA
  13229094
  13492649
  263556
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-12984.s1
  12
  M
  Control (matched sibling)
  NA
  NA
  13859439
  13887619
  28181
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-13016.s1
  9.5
  F
  Control (matched sibling)
  NA
  NA
  13846585
  13903660
  57076
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-13083.s1
  9.8
  F
  Control (matched sibling)
  NA
  NA
  13757057
  13906949
  149893
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-13083.s1
  9.8
  F
  Control (matched sibling)
  NA
  NA
  13222943
  13656214
  433272
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-13222.s1
  13.5
  F
  Control (matched sibling)
  NA
  NA
  13859439
  13897762
  38324
  GRCh38
  Duplication
  No

Cases

Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
 digregorio_17_DD/ID_discovery_cases-DECIPHER_300373
 
 
 Unknown
 
 
 NF1P3,FRG2MP,ANKRD20A18P,RNA5SP488,ERLEC1P1,PPP6R2P1,RBM11,LIPI,ABCC13
 
 engchuan_15_ASD_discovery_cases-case13031_403
 
 
 Unknown
 
 
 FGF7P2,MIR3156-3,VN1R8P,SNX19P1,OR4K11P,OR4K12P,RNU6-286P,ANKRD30BP1,GTF2IP2,LINC01674,POTED
 
 engchuan_15_ASD_discovery_cases-case13054_643
 
 
 Unknown
 
 
 FGF7P2,MIR3156-3,VN1R8P,SNX19P1,OR4K11P,OR4K12P,ANKRD30BP1,GTF2IP2,LINC01674
 
 engchuan_15_ASD_discovery_cases-case13086_1013
 
 
 Unknown
 
 
 FGF7P2,MIR3156-3,VN1R8P,SNX19P1,OR4K11P,OR4K12P,RNU6-286P,MIR3118-1,ANKRD30BP1,GTF2IP2,LINC01674,POTED
 
 engchuan_15_ASD_discovery_cases-case14249_3730
 
 
 Unknown
 
 
 FGF7P2,MIR3156-3,VN1R8P,SNX19P1,OR4K11P,OR4K12P,RNU6-286P,MIR3118-1,ANKRD30BP1,GTF2IP2,LINC01674,POTED
 
 engchuan_15_ASD_discovery_cases-case16095_1571145001
 
 
 Unknown
 
 
 FGF7P2,MIR3156-3,VN1R8P,SNX19P1,OR4K11P,OR4K12P,RNU6-286P,MIR3118-1,GRAMD4P1,CXADRP1,MIR8069-2,TERF1P1,FAM207CP,GXYLT1P2,CNN2P7,ZNF114P1,SNX18P13,RHOT1P2,RNU6-954P,ANKRD30BP1,GTF2IP2,LINC01674,CYP4F29P,ANKRD20A11P,FEM1AP1,POTED
 
 engchuan_15_ASD_discovery_cases-case1868_301
 
 
 Unknown
 
 
 FGF7P2,MIR3156-3,VN1R8P,SNX19P1,OR4K11P,OR4K12P,RNU6-286P,MIR3118-1,ANKRD30BP1,GTF2IP2,LINC01674,POTED
 
 engchuan_15_ASD_discovery_cases-case1974_302
 
 
 Unknown
 
 
 FGF7P2,MIR3156-3,VN1R8P,SNX19P1,OR4K11P,OR4K12P,RNU6-286P,MIR3118-1,ANKRD30BP1,GTF2IP2,LINC01674,POTED
 
 engchuan_15_ASD_discovery_cases-case20090_1392002
 
 
 Unknown
 
 
 FGF7P2,MIR3156-3,VN1R8P,SNX19P1,OR4K11P,ANKRD30BP1,GTF2IP2,LINC01674
 
 engchuan_15_ASD_discovery_cases-case3571_4
 
 
 Unknown
 
 
 FGF7P2,MIR3156-3,VN1R8P,SNX19P1,OR4K11P,OR4K12P,RNU6-286P,ANKRD30BP1,GTF2IP2,LINC01674,POTED
 
 engchuan_15_ASD_discovery_cases-case4321_1
 
 
 Unknown
 
 
 FGF7P2,MIR3156-3,VN1R8P,SNX19P1,OR4K11P,OR4K12P,ANKRD30BP1,GTF2IP2,LINC01674
 
 engchuan_15_ASD_discovery_cases-case4344_1
 
 
 Unknown
 
 
 RNU6-614P,FGF7P2,MIR3156-3,ANKRD30BP2,ANKRD30BP1,ZNF355P
 
 engchuan_15_ASD_discovery_cases-case8421_201
 
 
 Unknown
 
 
 FGF7P2,MIR3156-3,VN1R8P,SNX19P1,OR4K11P,OR4K12P,RNU6-286P,ANKRD30BP1,GTF2IP2,LINC01674,POTED
 
 girirajan_13b_ASD_discovery_cases-14909111141
 
 
 Unknown
 Unknown
 Unknown
 FGF7P2,MIR3156-3,VN1R8P,SNX19P1,OR4K11P,OR4K12P,ANKRD30BP1,GTF2IP2,LINC01674
 
 girirajan_13b_ASD_discovery_cases-63205104572
 
 
 Unknown
 Unknown
 Unknown
 FGF7P2,MIR3156-3,VN1R8P,SNX19P1,OR4K11P,OR4K12P,ANKRD30BP1,GTF2IP2,LINC01674
 
 maini_18_ASD/DD/ID_discovery_cases-case_unknown116
 
 
 Maternal
 Unknown
 Unknown
 POLR2CP1,SAMSN1
 
 pinto_10_ASD_discovery_cases-case1868_301
 Illumina550
 
 maternal
 NA
 NA
 FGF7P2,MIR3156-3,VN1R8P,SNX19P1,OR4K11P,OR4K12P,RNU6-286P,MIR3118-1,ANKRD30BP1,GTF2IP2,LINC01674,POTED
 
 pinto_10_ASD_discovery_cases-case1974_302
 Illumina550
 
 maternal
 NA
 NA
 FGF7P2,MIR3156-3,VN1R8P,SNX19P1,OR4K11P,OR4K12P,RNU6-286P,MIR3118-1,ANKRD30BP1,GTF2IP2,LINC01674,POTED
 
 prasad_12_ASD_discovery_cases-case134102
 
 
 Unknown
 Unknown
 Unknown
 LIPI
 
 sajan_13_ACC/CBLH/PMG_discovery_cases-case1018-0
 Not tested by qPCR
 
 Unknown
 Unknown
 Unknown
 ZNF355P
 
 sajan_13_ACC/CBLH/PMG_discovery_cases-case1308-0
 Not tested by qPCR
 
 Unknown
 Unknown
 Unknown
 ANKRD30BP2,ZNF355P
 
 sajan_13_ACC/CBLH/PMG_discovery_cases-case1314-0
 Not tested by qPCR
 
 Unknown
 Unknown
 Unknown
 ZNF355P
 
 sajan_13_ACC/CBLH/PMG_discovery_cases-case1450-0
 Not tested by qPCR
 
 Unknown
 Unknown
 Unknown
 GXYLT1P2,CNN2P7,ZNF114P1,CYP4F29P
 
 sajan_13_ACC/CBLH/PMG_discovery_cases-caseLR01-044
 Not tested by qPCR
 
 Unknown
 Unknown
 Unknown
 ZNF355P
 
 sajan_13_ACC/CBLH/PMG_discovery_cases-caseLR02-403
 Not tested by qPCR
 
 Unknown
 Unknown
 Unknown
 ZNF355P
 
 sanders_11_ASD_discovery_cases-11275.p1
 
 
 Unknown
 Simplex (quad-proband matched)
 Segregated
 RNU6-614P,ANKRD30BP2,ZNF355P
 
 sanders_11_ASD_discovery_cases-11440.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Segregated
 SAMSN1
 
 sanders_11_ASD_discovery_cases-11642.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 ABCC13
 
 sanders_11_ASD_discovery_cases-11800.p1
 
 
 Maternal
 Simplex (quad-proband unmatched)
 Unknown
 GXYLT1P2,CNN2P7,ZNF114P1,SNX18P13,CYP4F29P
 
 sanders_11_ASD_discovery_cases-11845.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 SAMSN1
 
 sanders_11_ASD_discovery_cases-11914.p1
 
 
 Paternal
 Simplex (trio)
 NA
 
 
 sanders_11_ASD_discovery_cases-12007.p1
 
 
 Both parents
 Simplex (quad-proband matched)
 Segregated
 
 
 sanders_11_ASD_discovery_cases-12009.p1
 
 
 Paternal
 Simplex (trio)
 NA
 ABCC13
 
 sanders_11_ASD_discovery_cases-12020.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-12048.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-12243.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 FGF7P2,MIR3156-3,VN1R8P,SNX19P1,OR4K11P,OR4K12P,RNU6-286P,MIR3118-1,GRAMD4P1,CXADRP1,MIR8069-2,ANKRD30BP1,GTF2IP2,LINC01674,POTED
 
 sanders_11_ASD_discovery_cases-13013.p1
 
 
 Maternal
 Simplex (trio)
 NA
 SAMSN1-AS1,SAMSN1
 
 sanders_11_ASD_discovery_cases-13016.p1
 
 
 Both parents
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-13083.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 TERF1P1,FAM207CP,GXYLT1P2,CNN2P7,ZNF114P1,SNX18P13,CYP4F29P,FEM1AP1
 
 sanders_11_ASD_discovery_cases-13083.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 FGF7P2,MIR3156-3,VN1R8P,SNX19P1,OR4K11P,OR4K12P,RNU6-286P,MIR3118-1,ANKRD30BP1,GTF2IP2,LINC01674,POTED
 
 sanders_11_ASD_discovery_cases-13104.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sato_12_ASD_discovery_cases_2-family1caseIV-3
 
 Possibly maternal
 Unknown
 Multiplex (brother with Asperger)
 Unknown
 OR4K11P,OR4K12P,RNU6-286P,MIR3118-1,GRAMD4P1,CXADRP1,MIR8069-2,TERF1P1,FAM207CP,GXYLT1P2,CNN2P7,LINC01674,FEM1AP1,POTED
 
 yin_16_ASD_discovery_cases-case593
 
 
 Unknown
 Unknown
 Unknown
 ZNF355P
 
 yin_16_ASD_discovery_cases-case594
 
 
 Unknown
 Unknown
 Unknown
 ZNF355P
 
 yin_16_ASD_discovery_cases-case595
 
 
 Unknown
 Unknown
 Unknown
 ZNF355P
 
 yin_16_ASD_discovery_cases-case596
 
 
 Unknown
 Unknown
 Unknown
 ZNF355P
 
 yin_16_ASD_discovery_cases-case597
 
 
 Unknown
 Unknown
 Unknown
 ZNF355P
 
 yin_16_ASD_discovery_cases-case598
 
 
 Unknown
 Unknown
 Unknown
 ZNF355P
 
 yin_16_ASD_discovery_cases-case599
 
 
 Unknown
 Unknown
 Unknown
 ZNF355P
 
 yin_16_ASD_discovery_cases-case600
 
 
 Unknown
 Unknown
 Unknown
 ZNF355P
 
 yin_16_ASD_discovery_cases-case601
 
 
 Unknown
 Unknown
 Unknown
 ZNF355P
 
 yin_16_ASD_discovery_cases-case602
 
 
 Unknown
 Unknown
 Unknown
 SNX18P13,ANKRD20A11P
 
 yin_16_ASD_discovery_cases-case603
 
 
 Unknown
 Unknown
 Unknown
 SNX18P13,ANKRD20A11P
 

Controls

Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
engchuan_15_ASD_discovery_controls-control110036004554_r
 
 
  Unknown
 
 
  FGF7P2,MIR3156-3,VN1R8P,SNX19P1,OR4K11P,OR4K12P,ANKRD30BP1,GTF2IP2,LINC01674
 
engchuan_15_ASD_discovery_controls-control110036017267_
 
 
  Unknown
 
 
  FGF7P2,MIR3156-3,VN1R8P,SNX19P1,OR4K11P,OR4K12P,ANKRD30BP1,GTF2IP2,LINC01674
 
engchuan_15_ASD_discovery_controls-controlB478115_1007842238
 
 
  Unknown
 
 
  FGF7P2,MIR3156-3,VN1R8P,SNX19P1,OR4K11P,OR4K12P,ANKRD30BP1,GTF2IP2,LINC01674
 
engchuan_15_ASD_discovery_controls-controlB549186_1007840957
 
 
  Unknown
 
 
  FGF7P2,MIR3156-3,VN1R8P,SNX19P1,OR4K11P,OR4K12P,ANKRD30BP1,GTF2IP2,LINC01674
 
engchuan_15_ASD_discovery_controls-controlB748453_0067942589
 
 
  Unknown
 
 
  FGF7P2,MIR3156-3,VN1R8P,SNX19P1,OR4K11P,OR4K12P,ANKRD30BP1,GTF2IP2,LINC01674
 
engchuan_15_ASD_discovery_controls-controlB754625_1007874648
 
 
  Unknown
 
 
  FGF7P2,MIR3156-3,VN1R8P,SNX19P1,OR4K11P,OR4K12P,RNU6-286P,MIR3118-1,ANKRD30BP1,GTF2IP2,LINC01674,POTED
 
engchuan_15_ASD_discovery_controls-controlB835590_0057060979
 
 
  Unknown
 
 
  RNU6-614P,FGF7P2,MIR3156-3,VN1R8P,SNX19P1,OR4K11P,OR4K12P,RNU6-286P,MIR3118-1,GRAMD4P1,CXADRP1,MIR8069-2,TERF1P1,FAM207CP,ANKRD30BP2,ANKRD30BP1,GTF2IP2,LINC01674,ZNF355P,FEM1AP1,POTED
 
engchuan_15_ASD_discovery_controls-controlB871387_1007875840
 
 
  Unknown
 
 
  FGF7P2,MIR3156-3,VN1R8P,SNX19P1,OR4K11P,OR4K12P,ANKRD30BP1,GTF2IP2,LINC01674
 
engchuan_15_ASD_discovery_controls-controlHABC_900395_900395
 
 
  Unknown
 
 
  FGF7P2,MIR3156-3,VN1R8P,SNX19P1,OR4K11P,OR4K12P,RNU6-286P,ANKRD30BP1,GTF2IP2,LINC01674,POTED
 
engchuan_15_ASD_discovery_controls-controlHABC_900887_900887
 
 
  Unknown
 
 
  FGF7P2,MIR3156-3,VN1R8P,SNX19P1,OR4K11P,OR4K12P,ANKRD30BP1,GTF2IP2,LINC01674
 
engchuan_15_ASD_discovery_controls-controlHABC_901219_901219
 
 
  Unknown
 
 
  FGF7P2,MIR3156-3,VN1R8P,SNX19P1,OR4K11P,OR4K12P,RNU6-286P,ANKRD30BP1,GTF2IP2,LINC01674,POTED
 
engchuan_15_ASD_discovery_controls-controlHABC_901225_901225
 
 
  Unknown
 
 
  FGF7P2,MIR3156-3,VN1R8P,SNX19P1,OR4K11P,OR4K12P,RNU6-286P,ANKRD30BP1,GTF2IP2,LINC01674,POTED
 
engchuan_15_ASD_discovery_controls-controlHABC_902525_902525
 
 
  Unknown
 
 
  FGF7P2,MIR3156-3,VN1R8P,SNX19P1,OR4K11P,OR4K12P,RNU6-286P,ANKRD30BP1,GTF2IP2,LINC01674,POTED
 
girirajan_13b_ASD_discovery_controls-11105103556
 
 
  Unknown
 
 
  FGF7P2,MIR3156-3,VN1R8P,SNX19P1,OR4K11P,OR4K12P,ANKRD30BP1,GTF2IP2,LINC01674
 
sanders_11_ASD_discovery_controls-11215.s1
 
 
  Maternal
  Simplex (quad)
  NA
  RNU6-614P,ANKRD30BP2,ZNF355P
 
sanders_11_ASD_discovery_controls-11366.s1
 
 
  Paternal
  Simplex (quad)
  NA
  FGF7P2,MIR3156-3,VN1R8P,SNX19P1,OR4K11P,OR4K12P,RNU6-286P,MIR3118-1,ANKRD30BP1,GTF2IP2,LINC01674,POTED
 
sanders_11_ASD_discovery_controls-11378.s1
 
 
  Unknown
  Simplex (quad)
  NA
  RNU6-614P,ANKRD30BP2,ZNF355P
 
sanders_11_ASD_discovery_controls-11512.s1
 
 
  Unknown
  Simplex (quad)
  NA
  RNU6-614P,ANKRD30BP2,ZNF355P
 
sanders_11_ASD_discovery_controls-11561.s1
 
 
  Paternal
  Simplex (quad)
  NA
  TERF1P1,FAM207CP,GXYLT1P2,CNN2P7,ZNF114P1,SNX18P13,CYP4F29P
 
sanders_11_ASD_discovery_controls-11959.s1
 
 
  Maternal
  Simplex (quad)
  NA
  RNU6-614P,ANKRD30BP2,ZNF355P
 
sanders_11_ASD_discovery_controls-11969.s1
 
 
  Maternal
  Simplex (quad)
  NA
  SAMSN1-AS1,SAMSN1
 
sanders_11_ASD_discovery_controls-12007.s1
 
 
  Maternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-12020.s1
 
 
  Paternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-12243.s1
 
 
  Maternal
  Simplex (quad)
  NA
  FGF7P2,MIR3156-3,VN1R8P,SNX19P1,OR4K11P,OR4K12P,RNU6-286P,MIR3118-1,ANKRD30BP1,GTF2IP2,LINC01674,POTED
 
sanders_11_ASD_discovery_controls-12656.s1
 
 
  Paternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-12759.s1
 
 
  Paternal
  Simplex (quad)
  NA
  TERF1P1,FAM207CP,GXYLT1P2,CNN2P7,ZNF114P1,SNX18P13,CYP4F29P,ANKRD20A11P
 
sanders_11_ASD_discovery_controls-12759.s1
 
 
  Paternal
  Simplex (quad)
  NA
  FGF7P2,MIR3156-3,VN1R8P,SNX19P1,OR4K11P,OR4K12P,RNU6-286P,MIR3118-1,GRAMD4P1,CXADRP1,ANKRD30BP1,GTF2IP2,LINC01674,POTED
 
sanders_11_ASD_discovery_controls-12786.s1
 
 
  Unknown
  Simplex (quad)
  NA
  FGF7P2,MIR3156-3,VN1R8P,ANKRD30BP1,GTF2IP2
 
sanders_11_ASD_discovery_controls-12984.s1
 
 
  Maternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-13016.s1
 
 
  Maternal
  Simplex (quad)
  NA
  CYP4F29P
 
sanders_11_ASD_discovery_controls-13083.s1
 
 
  Unknown
  Simplex (quad)
  NA
  TERF1P1,FAM207CP,GXYLT1P2,CNN2P7,ZNF114P1,SNX18P13,CYP4F29P,FEM1AP1
 
sanders_11_ASD_discovery_controls-13083.s1
 
 
  Maternal
  Simplex (quad)
  NA
  FGF7P2,MIR3156-3,VN1R8P,SNX19P1,OR4K11P,OR4K12P,RNU6-286P,MIR3118-1,ANKRD30BP1,GTF2IP2,LINC01674,POTED
 
sanders_11_ASD_discovery_controls-13222.s1
 
 
  Maternal
  Simplex (quad)
  NA
 
 

No Animal Model Data Available
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