9p21.1CNV Type: Deletion-Duplication
Largest CNV size: 641000 bp
Statistics Box:
Number of Reports: 16
Number of Reports: 16
Summary Information
Summary statement in development
Additional Locus Information
References
Major Reports
Title
Author, Year
Report Class
CNV Type
Structural variation of chromosomes in autism spectrum disorder.
Deletion
Functional impact of global rare copy number variation in autism spectrum disorders.
Deletion-Duplication
Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations.
Deletion
Screening of 50 cypriot patients with autism spectrum disorders or autistic features using 400K custom array-CGH.
Deletion
Copy number variation in Han Chinese individuals with autism spectrum disorder.
Deletion
Excess of rare, inherited truncating mutations in autism.
Deletion-Duplication
Minor Reports
Title
Author, Year
Report Class
CNV Type
Rare structural variation of synapse and neurotransmission genes in autism.
Deletion
Multiple recurrent de novo CNVs, including duplications of the 7q11.23 Williams syndrome region, are strongly associated with autism.
Deletion-Duplication
Rare de novo and transmitted copy-number variation in autistic spectrum disorders.
Deletion
A discovery resource of rare copy number variations in individuals with autism spectrum disorder.
Deletion
Transmission disequilibrium of small CNVs in simplex 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
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
Rare Inherited and De Novo CNVs Reveal Complex Contributions to ASD Risk in Multiplex Families.
Deletion
Cases
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
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
519731
42
6
48
gai_11_ASD_discovery_cases
Discovery case samples derived from AGRE set 4 (most recent patient recruitment)
631
Idiopathic autism; cases designated as 'spectrum' and 'not quite autism' excluded, as were cases with known genetic syndromes or other non-idiopathic causes
274108
6
0
6
gai_11_ASD_replication_cases
Replication case samples derived from AGRE sets 1-3
593
Idiopathic autism; cases designated as 'spectrum' and 'not quite autism' excluded, as were cases with known genetic syndromes or other non-idiopathic causes
193111
4
0
4
gazzellone_14_ASD_discovery_cases
ASD-affected individuals referred to the Children Development and Behavior Research Center (CDRBC) at Harbin Medical University, China, between January 2007 and June 2011.
104
Diagnosis of ASD made using Autism Behavior Checklist (ABC) and Childhood Autism Rating Scale (CARS)
Mean age at enrollment, 4.31 1.80 yrs.
87.5% Male
138919
2
0
2
kousoulidou_13_ASD_discovery_cases
Cypriot patients with ASD or autistic features
50
Children with preliminary diagnosis of ASD [reevaluated by clinical geneticist to rule out autistic-like syndromes and retested for ASD based on DSM-IV-TR and ICD-10 using Gilliam Autism Rating Scale-2 (GARS-2)]
Range, 3-18 yrs.
90% Male
142000
1
0
1
krumm_13_ASD_discovery_cases
Probands from quad families ascertained as part of the Simons Simplex Collection (SSC); CNVs detected using data from four previously published exome sequencing studies (O'Roak et al., 2011; Iossifov et al., 2012; O'Roak et al., 2012; Sanders et al., 2012)
411
Diagnosis of ASD. Social Responsiveness Scale (SRS) used as a quantitative measure of social deficits
N/A
81.265% Male
125981
0
1
1
krumm_15_ASD_discovery_cases
Probands from the Simons Simplex Collection
2377
Diagnosis of ASD
N/A
N/A
140751
1
3
4
leppa_16_ASD_discovery_cases
Children affected with ASD from 1,464 families from the Autism Genetic Resource Exchange (AGRE)
1764
Diagnosis according to ADOS and ADI-R
N/A
N/A
2900000
3
0
3
levy_11_ASD_discovery_cases
Autistic probands from 887 families from the Simons Simplex Collection (SSC)
858
ASD
87.06% Male
25408
1
0
1
maini_18_ASD/DD/ID_discovery_cases
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
227000
2
0
2
marshall_08_ASD_discovery_cases
Cohort of ASD families (237 simplex, 189 mulitplex) recruited from the Hospital for Sick Children, McMaster Univ., Memorial Univ., and other sites
427
ASD
641000
1
0
1
o'roak_12_ASD_discovery_cases
Autistic probands from the Simons Simplex Collection (SSC), from an initial cohort of 189 autism families
122
ASD/autism
NA
NA
156752
1
0
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
169717
5
1
6
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
647518
2
0
2
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
166681
2
0
2
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
241658
24
4
28
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
79501
1
0
1
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
525686
44
2
46
kanduri_15_ASD_discovery_controls
Unrelated Finnish samples from the cohort of Health 2000 survey from an initial sample of 288 individuals following quality control
269
Controls screened for DSM-IV mental disorders using the Composite International Diagnostic Interview and psychotic disorders using the research version of the Structured Clinical Interview for DSM-IV
N/A
N/A
18251
0
1
1
kousoulidou_13_ASD_discovery_controls
Control cohort consisting of 50 normal participants (36% male) older than 30 years of age with at least two biological children with no mental, neurological, or developmental disorder; and 80 normal individuals having children with syndromic or nonsyndromic intellectual disability, developmental delay, or rare neurological syndromes.
130
Controls
N/A
N/A
142000
1
0
1
krumm_13_ASD_discovery_controls
Unaffected siblings of ASD probands from quad families ascertained as part of the Simons Simplex Collection (SSC); CNVs detected using data from four previously published exome sequencing studies (O'Roak et al., 2011; Iossifov et al., 2012; O'Roak et al., 2012; Sanders et al., 2012)
411
Control (unaffected siblings of ASD probands). Social Responsiveness Scale (SRS) used as a quantitative measure of social deficits
N/A
46.47% Male
94412
0
1
1
krumm_15_ASD_discovery_controls
Unaffected siblings from quad families from the Simons Simplex Collection
1786
Control
N/A
N/A
94412
0
2
2
levy_11_ASD_discovery_controls
Unaffected siblings of autistic probands from 887 families from the Simons Simplex Collection (SSC)
863
Control
47.97% Male
0
0
0
0
marshall_08_ASD_discovery_controls_1
German PopGen project and entries from Database of Genomic Variants
500
Controls
0
0
0
0
marshall_08_ASD_discovery_controls_2
Non-disease controls from Ontario population
1152
Controls
0
0
0
0
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)
647518
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.
249785
21
5
26
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
79501
0
0
0
Cases
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
engchuan_15_ASD_discovery_cases
Caucasian
Solid phase hybridization
Illumina 1M
None
gai_11_ASD_discovery_cases
European
Solid phase hybridization
Illumina Infinium II HumanHap550 BeadChip
BeadStudio 3.0
None
gai_11_ASD_replication_cases
European
Solid phase hybridization
Illumina Infinium II HumanHap550 BeadChip
BeadStudio 3.0
None
gazzellone_14_ASD_discovery_cases
Han Chinese
Array SNP
Affymetrix CytoScan HD
ChAS, iPattern, Nexus, Partek
qPCR, Taqman assay
kousoulidou_13_ASD_discovery_cases
Cyprus
aCGH
Agilent 400K custom array-CGH
Agilent Feature Extraction 9.1, Nexus Copy Number 5.1
qPCR
krumm_13_ASD_discovery_cases
N/A
WES
Whole exome sequencing platforms used in four recent publications (O'Roak et al., 2011; Sanders et al., 2012; O'Roak et al., 2012, and Iossifov et al., 2012)
DNACopy, CGHCall
CoNIFER
None
krumm_15_ASD_discovery_cases
N/A
WES
CoNIFER, XHMM
Solid phase hybridization (Illumina 1M, 1 M Duo, or Omni 2.5)
leppa_16_ASD_discovery_cases
N/A
Solid phase hybridization
Illumina 550v1 and 550v3, Omni-1.0-B and -H, Omni 2.5
PennCNV, QuantiSNP, GNOSIS
GenomeStudio, CNVision
None
levy_11_ASD_discovery_cases
aCGH
NimbleGen HD2
HMM
maini_18_ASD/DD/ID_discovery_cases
Italian
aCGH, array SNP
Multiple platforms, including Agilent and Affymetrix arrays (8x60K oligochips since 2012)
None
marshall_08_ASD_discovery_cases
90% European, 4.5% European-mixed, 4.5% Asian, 0.07% African
Array SNP, karotyping
Affymetrix 500K
dChip, CNAG, GEMCA
qPCR, qmPCR
o'roak_12_ASD_discovery_cases
NA
WES
NimbleGen EZ Exome V2.0, Illumina GAIIx or HiSeq2000
HMM
mrsFAST aligner
aCGH, Sanger sequencing
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
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
kanduri_15_ASD_discovery_controls
Finnish
Solid phase hybridization
Illumina Infinium HD Human610-Quad BeadChip
QuantiSNP, PennCNV
Illumina BeadStudio
None
kousoulidou_13_ASD_discovery_controls
Cyprus
aCGH
Agilent 400K custom array-CGH
Agilent Feature Extraction 9.1, Nexus Copy Number 5.1
krumm_13_ASD_discovery_controls
N/A
WES
Whole exome sequencing platforms used in four recent publications (O'Roak et al., 2011; Sanders et al., 2012; O'Roak et al., 2012, and Iossifov et al., 2012)
DNACopy, CGHCall
CoNIFER
Solid phase hybridization (Illumina 1M), aCGH (Agilent SurePrint G3 4x180K), or confirmed by manual inspection
krumm_15_ASD_discovery_controls
N/A
WES
CoNIFER, XHMM
Solid phase hybridization (Illumina 1M, 1 M Duo, or Omni 2.5)
levy_11_ASD_discovery_controls
aCGH
NimbleGen HD2
HMM
marshall_08_ASD_discovery_controls_1
European
Array SNP, karotyping
Affymetrix 500K
dChip, CNAG, GEMCA
marshall_08_ASD_discovery_controls_2
European
Array SNP, karotyping
Affymetrix 500K
dChip, CNAG, GEMCA
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
engchuan_15_ASD_discovery_cases-case1116_4
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
30782467
30848640
66174
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case13002_33
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
28793696
28861468
67773
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case13082_963
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
28591879
28761595
169717
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case13093_1103
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
28591879
28761595
169717
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case13154_1713
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
29753417
29940396
186980
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case13165_1823
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
30420640
30558224
137585
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case14080_1360
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
29918654
30438385
519732
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case14138_2360
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
30257786
30386812
129027
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case14138_2360
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
28677378
28775611
98234
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case14142_2400
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
31520949
31602658
81710
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case14206_3320
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
29918654
30438385
519732
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case14287_1410
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
29386694
29438216
51523
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case14369_4820
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
28677378
28775611
98234
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case16056_1571011001
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
30420640
30558224
137585
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case16056_1571011001
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
28591879
28761595
169717
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case16064_1571160001
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
30420640
30558224
137585
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case17022_1
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
30253170
30391484
138315
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case18100_302
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
30566869
30713639
146771
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case18108_302
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
30620842
30698144
77303
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case18111_304
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
28677378
28716565
39188
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case18170_302
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
28806131
28876049
69919
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case20041_1248001
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
28194548
28348015
153468
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case20151_1636001
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
29942474
30002857
60384
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case20185_1714001
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
30257786
30391484
133699
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case2190_1
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
29942474
30002857
60384
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case2294_1
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
31197974
31237388
39415
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case3118_3
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
30064201
30098651
34451
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case3389_3
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
28591879
28761595
169717
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case4053_1
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
30420640
30558224
137585
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case4157_1
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
30420640
30558224
137585
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case4159_1
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
28194548
28343498
148951
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case4161_1
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
30558224
30733388
175165
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case4182_1
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
29335833
29440076
104244
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case4466_1
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
30546361
30592034
45674
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case4504_1
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
30546361
30592034
45674
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case5211_3
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
28591879
28761595
169717
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case5225_3
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
28550758
28582400
31643
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case5304_3
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
28534491
28566851
32361
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case5442_3
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
30673428
30706230
32803
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case5510_3
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
30420640
30566869
146230
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case5561_3
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
28550758
28628502
77745
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case6005_5
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
28591879
28761595
169717
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case6129_5
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
30467139
30555393
88255
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case8152_201
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
29940396
29997055
56660
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case8539_201
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
28194548
28348015
153468
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case8554_201
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
31209671
31275690
66020
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case8636_201
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
30420640
30558224
137585
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case8668_201
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
30187800
30284661
96862
GRCh38
Deletion
No
gai_11_ASD_discovery_cases-AU1107301
Autism
28540930
28572398
31469
Unknown
Deletion
No
gai_11_ASD_discovery_cases-AU1107302
Autism
28540930
28575455
34526
Unknown
Deletion
No
gai_11_ASD_discovery_cases-AU1372301
Autism
31339953
31469005
129053
Unknown
Deletion
No
gai_11_ASD_discovery_cases-AU1607307
Autism
28744535
28777049
32515
Unknown
Deletion
No
gai_11_ASD_discovery_cases-AU1921304
Autism
28519410
28783773
264364
Unknown
Deletion
No
gai_11_ASD_discovery_cases-AU1921305
Autism
28509666
28783773
274108
Unknown
Deletion
No
gai_11_ASD_replication_cases-AU027304
Autism
30782467
30848640
66174
GRCh38
Deletion
No
gai_11_ASD_replication_cases-AU080004
Autism
28567961
28618500
50540
Unknown
Deletion
No
gai_11_ASD_replication_cases-AU080005
Autism
28567961
28610312
42352
Unknown
Deletion
No
gai_11_ASD_replication_cases-AU1048301
Autism
28959259
29152369
193111
Unknown
Deletion
No
gazzellone_14_ASD_discovery_cases-case511-3
N/A
M
ASD
ASD; no other clinical information provided
N/A
28464220
28596288
132069
GRCh38
Deletion
Yes
gazzellone_14_ASD_discovery_cases-case694-3
4 yrs.
M
ASD
ASD; no other clinical information provided
N/A
28491681
28630600
138920
GRCh38
Deletion
Yes
kousoulidou_13_ASD_discovery_cases-patient13
N/A
M
ASD
ASD
28729402
28871228
141827
GRCh38
Deletion
Yes
krumm_13_ASD_discovery_cases-case12252.p1
N/A
M
ASD
ASD proband from SSC quad family 12252. SRS score of 74.
Full-scale IQ (FSIQ) score of 87.
33135188
33261169
125982
GRCh38
Duplication
No (not tested)
krumm_15_ASD_discovery_cases-case11917.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
33166757
33261169
94413
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_cases-case12139.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Trio
28863301
28889280
25980
GRCh38
Deletion
Yes
krumm_15_ASD_discovery_cases-case12252.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
33120418
33261169
140752
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_cases-case12924.p1
N/A
Female
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
32984630
32989895
5266
GRCh38
Duplication
Yes
leppa_16_ASD_discovery_cases-AU1858301
N/A
F
ASD
28355002
31292002
2937001
GRCh38
Deletion
No
leppa_16_ASD_discovery_cases-AU1858302
N/A
F
ASD
28355002
31292002
2937001
GRCh38
Deletion
No
leppa_16_ASD_discovery_cases-AU1858304
N/A
M
ASD
28355002
31292002
2937001
GRCh38
Deletion
No
levy_11_ASD_discovery_cases-11660.p1
NA
F
ASD
NA
NA
30927198
30952605
25408
GRCh38
Deletion
No
maini_18_ASD/DD/ID_discovery_cases-case_unknown209
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)
30520900
30747641
226742
GRCh38
Deletion
No
maini_18_ASD/DD/ID_discovery_cases-case_unknown210
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)
30520900
30747641
226742
GRCh38
Deletion
No
marshall_08_ASD_discovery_cases-SK0210-004
NA
M
ASD
NA
NA
28587802
29228802
641001
GRCh38
Deletion
Yes
o'roak_12_ASD_discovery_cases-case11707.p1
NA
M
ASD/Autism
Case also identified with de novo PDCD1 frameshift mutation. No additional clinical info available.
Low IQ. Non verbal IQ, 23
28191263
28348015
156753
GRCh38
Deletion
Yes
pinto_10_ASD_discovery_cases-case1116_4
NA
M
ASD
NA
NA
30782467
30848640
66174
GRCh38
Deletion
Yes
pinto_10_ASD_discovery_cases-case5211_3
NA
F
ASD
NA
NA
28591879
28761595
169717
GRCh38
Deletion
Yes
pinto_10_ASD_discovery_cases-case5225_3
NA
M
Autism
NA
NA
28550758
28582400
31643
GRCh38
Deletion
Yes
pinto_10_ASD_discovery_cases-case5304_3
NA
M
ASD
NA
NA
28534491
28566851
32361
GRCh38
Deletion
Yes
pinto_10_ASD_discovery_cases-case5442_3
NA
M
ASD
NA
NA
30673428
30706230
32803
GRCh38
Deletion
Yes
pinto_10_ASD_discovery_cases-case5510_3
NA
M
ASD
NA
NA
30420640
30566869
146230
GRCh38
Duplication
Yes
prasad_12_ASD_discovery_cases-case153119L
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
29041945
29069878
27934
Unknown
Deletion
No
prasad_12_ASD_discovery_cases-case57601
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
28572453
29219970
647518
Unknown
Deletion
No
sajan_13_ACC/CBLH/PMG_discovery_cases-case1070-0
N/A
N/A
ACC
Diagnosis of agenesis of the corpus callosum (ACC). ASD: unknown. Seizures: yes.
Developmental delay: yes. Intellectual disability: yes.
28198625
28342181
143557
GRCh38
Deletion
No
sajan_13_ACC/CBLH/PMG_discovery_cases-caseLR02-301
N/A
N/A
CBLH
Diagnosis of cerebellar hypoplasia (CBLH).
28594915
28761595
166681
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11080.p1
5.1
F
ASD
NA
Full-scale IQ, 51; non-verbal IQ, 50; verbal IQ 66
28194548
28358522
163975
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11229.p1
9.4
M
Autism
NA
Full-scale IQ, 63; non-verbal IQ, 68; verbal IQ, 56
28591879
28768413
176535
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11258.p1
14.8
M
Autism
NA
Full-scale IQ, 108; non-verbal IQ, 119; verbal IQ, 96
29942474
29997055
54582
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11297.p1
12.8
M
Autism
NA
Full-scale IQ, 87; non-verbal IQ, 98; verbal IQ 73
32219200
32224468
5269
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11325.p1
15.6
M
Autism
NA
Full-scale IQ, 39; non-verbal IQ, 48; verbal IQ, 21
32081119
32088787
7669
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11378.p1
9.8
M
Autism
NA
Full-scale IQ, 77; non-verbal IQ, 91; verbal IQ, 48
28301147
28542805
241659
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11499.p1
7
M
Autism
NA
Full-scale IQ, 133; non-verbal IQ, 139; verbal IQ, 108
30420640
30558224
137585
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11520.p1
9.6
M
Autism
NA
Full-scale IQ, 68; non-verbal IQ, 77; verbal IQ, 57
28566452
28768413
201962
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11565.p1
10.8
M
Autism
NA
Full-scale IQ, 113; non-verbal IQ, 114; verbal IQ, 109
28194548
28355203
160656
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11616.p1
10.3
M
Autism
NA
Full-scale IQ, 127; non-verbal IQ, 129; verbal IQ, 113
28591879
28768413
176535
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11707.p1
13.5
M
Autism
NA
Full-scale IQ, 19; non-verbal IQ, 23; verbal IQ, 16
28194548
28348015
153468
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
32081119
32088787
7669
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11918.p1
9.8
F
Autism
NA
Full-scale IQ, 48; non-verbal IQ, 59; verbal IQ, 39
28742354
28761595
19242
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12076.p1
9.8
M
Autism
NA
Full-scale IQ, 106; non-verbal IQ, 110; verbal IQ, 98
30952536
30954495
1960
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12139.p1
4.3
M
ASD
NA
Full-scale IQ, 98; non-verbal IQ, 106; verbal IQ, 86
28768413
28975708
207296
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12221.p1
4.1
M
Autism
NA
Full-scale IQ, 89; non-verbal IQ, 99; verbal IQ, 76
31838384
31842568
4185
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12243.p1
12
M
Autism
NA
Full-scale IQ, 97; non-verbal IQ, 92; verbal IQ, 107
30647720
30742737
95018
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12301.p1
13.9
M
Autism
NA
Full-scale IQ, 119; non-verbal IQ, 115; verbal IQ, 122
28591879
28768413
176535
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12367.p1
9.4
M
ASD
NA
Full-scale IQ, 114; non-verbal IQ, 111; verbal IQ, 117
28628502
28752486
123985
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12480.p1
13.1
M
Autism
NA
Full-scale IQ, 86; non-verbal IQ, 83; verbal IQ, 96
28542805
28683513
140709
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12507.p1
18
M
Autism
NA
Full-scale IQ, 80; non-verbal IQ, 73; verbal IQ, 100
32081119
32088787
7669
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12616.p1
4.3
M
Autism
NA
Full-scale IQ, 111; non-verbal IQ, 113; verbal IQ, 104
32304305
32319725
15421
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12642.p1
11.1
M
Autism
NA
Full-scale IQ, 99; non-verbal IQ, 91; verbal IQ, 113
30420640
30558224
137585
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12650.p1
6.4
M
Autism
NA
Full-scale IQ, 104; non-verbal IQ, 100; verbal IQ, 109
28591879
28768413
176535
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12754.p1
7.9
M
Autism
NA
Full-scale IQ, 125; non-verbal IQ, 125; verbal IQ, 115
28194548
28348015
153468
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-13065.p1
5.6
M
Autism
NA
Full-scale IQ, 91; non-verbal IQ, 101; verbal IQ, 81
28742354
28771621
29268
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-13120.p1
8
M
Autism
NA
Full-scale IQ, 113; non-verbal IQ, 109; verbal IQ, 118
30845995
30860751
14757
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-13296.p1
5.9
M
Autism
NA
Full-scale IQ, 30; non-verbal IQ, 44; verbal IQ, 15
32717015
32728430
11416
GRCh38
Duplication
No
yin_16_ASD_discovery_cases-case346
N/A
N/A
ASD
Cases diagnosed with autistic disorder according to DSM-IV and confirmed by using the Chinese version of ADI-R.
28813879
28893379
79501
GRCh38
Deletion
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-control110036005502_
N/A
N/A
Control
No previous psychiatric history
30398353
30649715
251363
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-control110036014751_
N/A
N/A
Control
No previous psychiatric history
28591879
28761595
169717
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-control110036015360_
N/A
N/A
Control
No previous psychiatric history
28591879
28761595
169717
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-control110036019115_
N/A
N/A
Control
No previous psychiatric history
28683513
29209199
525687
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-control110036019552_
N/A
N/A
Control
No previous psychiatric history
28591879
28761595
169717
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-control110036025344_
N/A
N/A
Control
No previous psychiatric history
28591879
28761595
169717
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlB106347_1007873601
N/A
N/A
Control
No previous psychiatric history
28692573
28736990
44418
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlB354433_1007854022
N/A
N/A
Control
No previous psychiatric history
30604264
30804874
200611
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlB395840_1007872297
N/A
N/A
Control
No previous psychiatric history
28587834
28623521
35688
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlB395936_1007853800
N/A
N/A
Control
No previous psychiatric history
28194548
28343498
148951
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlB401883_1007874319
N/A
N/A
Control
No previous psychiatric history
28591879
28761595
169717
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlB458066_1007853853
N/A
N/A
Control
No previous psychiatric history
30647720
30733388
85669
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlB640901_1007854138
N/A
N/A
Control
No previous psychiatric history
28194548
28343498
148951
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlB686368_1007854140
N/A
N/A
Control
No previous psychiatric history
30420640
30558224
137585
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlB746394_1007874345
N/A
N/A
Control
No previous psychiatric history
28591879
28761595
169717
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlB749532_1007845879
N/A
N/A
Control
No previous psychiatric history
28591879
28761595
169717
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlB765566_1007872601
N/A
N/A
Control
No previous psychiatric history
29942474
29997055
54582
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlB808137_1007875273
N/A
N/A
Control
No previous psychiatric history
31244800
31704696
459897
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlB853098_1007874651
N/A
N/A
Control
No previous psychiatric history
30546361
30687074
140714
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlB941932_1007873623
N/A
N/A
Control
No previous psychiatric history
31230973
31364338
133366
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlB968534_1007842350
N/A
N/A
Control
No previous psychiatric history
28591879
28761595
169717
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlB981860_1007871680
N/A
N/A
Control
No previous psychiatric history
28194548
28354329
159782
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlB983431_1007853825
N/A
N/A
Control
No previous psychiatric history
28194548
28343498
148951
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlHABC_900125_900125
N/A
N/A
Control
No previous psychiatric history
30420640
30558224
137585
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlHABC_900233_900233
N/A
N/A
Control
No previous psychiatric history
28591879
28761595
169717
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlHABC_900240_900240
N/A
N/A
Control
No previous psychiatric history
29942474
29997055
54582
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlHABC_900274_900274
N/A
N/A
Control
No previous psychiatric history
31555979
31614387
58409
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlHABC_900290_900290
N/A
N/A
Control
No previous psychiatric history
28591879
28761595
169717
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlHABC_900333_900333
N/A
N/A
Control
No previous psychiatric history
30420640
30558224
137585
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlHABC_900370_900370
N/A
N/A
Control
No previous psychiatric history
28591879
28761595
169717
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlHABC_900405_900405
N/A
N/A
Control
No previous psychiatric history
28194548
28348015
153468
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlHABC_900513_900513
N/A
N/A
Control
No previous psychiatric history
28591879
28761595
169717
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlHABC_900588_900588
N/A
N/A
Control
No previous psychiatric history
29464038
29770724
306687
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlHABC_900941_900941
N/A
N/A
Control
No previous psychiatric history
30443905
30864790
420886
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlHABC_901041_901041
N/A
N/A
Control
No previous psychiatric history
30420640
30558224
137585
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlHABC_901092_901092
N/A
N/A
Control
No previous psychiatric history
28194548
28348015
153468
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlHABC_901146_901146
N/A
N/A
Control
No previous psychiatric history
30201777
30500995
299219
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlHABC_901157_901157
N/A
N/A
Control
No previous psychiatric history
30420640
30558224
137585
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlHABC_901254_901254
N/A
N/A
Control
No previous psychiatric history
28194548
28348015
153468
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlHABC_902446_902446
N/A
N/A
Control
No previous psychiatric history
29942474
29997055
54582
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlHABC_902463_902463
N/A
N/A
Control
No previous psychiatric history
28591879
28768413
176535
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlHABC_902469_902469
N/A
N/A
Control
No previous psychiatric history
28609760
28677378
67619
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlHABC_902478_902478
N/A
N/A
Control
No previous psychiatric history
28591879
28761595
169717
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlHABC_902520_902520
N/A
N/A
Control
No previous psychiatric history
31287951
31325672
37722
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlHABC_902650_902650
N/A
N/A
Control
No previous psychiatric history
29942474
29997055
54582
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlHABC_902759_902759
N/A
N/A
Control
No previous psychiatric history
28591879
28761595
169717
GRCh38
Deletion
No
kanduri_15_ASD_discovery_controls-control_split1079
N/A
N/A
Control
Control screened for DSM-IV mental disorders using the Composite International Diagnostic Interview and psychotic disorders using the research version of the Structured Clinical Interview for DSM-IV
28309788
28328038
18251
Unknown
Duplication
No
kousoulidou_13_ASD_discovery_controls-control11
N/A
N/A
Control
28729402
28871228
141827
GRCh38
Deletion
No
krumm_13_ASD_discovery_controls-control12252.s1
N/A
M
Control
Unaffected sibling from SSC quad family 12252. SRS score of 41.
33166757
33261169
94413
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_controls-control12252.s1
N/A
Male
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
33166757
33261169
94413
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_controls-control12924.s1
N/A
Female
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
32984630
32989895
5266
GRCh38
Duplication
Yes
sanders_11_ASD_discovery_controls-11229.s1
6.1
M
Control (matched sibling)
NA
NA
28591879
28771621
179743
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11318.s1
5.7
M
Control (matched sibling)
NA
NA
32081119
32088787
7669
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11355.s1
5.4
F
Control (matched sibling)
NA
NA
28460160
28475903
15744
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11360.s1
8.4
F
Control (matched sibling)
NA
NA
28455148
28477084
21937
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11378.s1
11.2
M
Control (matched sibling)
NA
NA
28301147
28550932
249786
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11458.s1
14.5
M
Control (matched sibling)
NA
NA
32717015
32727138
10124
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11485.s1
10.5
F
Control (matched sibling)
NA
NA
28158883
28181087
22205
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11489.s1
15.8
M
Control (matched sibling)
NA
NA
30546361
30592034
45674
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11499.s1
12.9
M
Control (matched sibling)
NA
NA
30420640
30569891
149252
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11520.s1
10.8
M
Control (matched sibling)
NA
NA
28562151
28768413
206263
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11707.s1
15.1
F
Control (matched sibling)
NA
NA
28194548
28348015
153468
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11718.s1
23.6
F
Control (matched sibling)
NA
NA
28591879
28761595
169717
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11872.s1
6
F
Control (matched sibling)
NA
NA
28516766
28529412
12647
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11981.s1
8.6
F
Control (matched sibling)
NA
NA
28659145
28663044
3900
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12076.s1
6.2
M
Control (matched sibling)
NA
NA
30952536
30954495
1960
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12227.s1
10.3
M
Control (matched sibling)
NA
NA
32696998
32722174
25177
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-12228.s1
8.8
F
Control (matched sibling)
NA
NA
28591879
28783525
191647
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12271.s1
9.1
M
Control (matched sibling)
NA
NA
30297395
30318867
21473
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-12301.s1
16.8
F
Control (matched sibling)
NA
NA
28591879
28771621
179743
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12616.s1
7.6
M
Control (matched sibling)
NA
NA
32302839
32319725
16887
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12618.s1
6.8
M
Control (matched sibling)
NA
NA
28194548
28358522
163975
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12650.s1
4.7
F
Control (matched sibling)
NA
NA
28591879
28768413
176535
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12739.s1
4.1
M
Control (matched sibling)
NA
NA
28911019
28934900
23882
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12879.s1
6.3
M
Control (matched sibling)
NA
NA
28641963
28653506
11544
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-13005.s1
6.8
F
Control (matched sibling)
NA
NA
32717015
32735068
18054
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-13120.s1
6.2
M
Control (matched sibling)
NA
NA
30845995
30860751
14757
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-13136.s1
4.3
F
Control (matched sibling)
NA
NA
31136988
31147842
10855
GRCh38
Deletion
No
Cases
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
engchuan_15_ASD_discovery_cases-case1116_4
Unknown
KRT18P36,RPS26P2
engchuan_15_ASD_discovery_cases-case13002_33
Unknown
engchuan_15_ASD_discovery_cases-case13082_963
Unknown
KCTD10P1,LINGO2
engchuan_15_ASD_discovery_cases-case13093_1103
Unknown
KCTD10P1,LINGO2
engchuan_15_ASD_discovery_cases-case13154_1713
Unknown
ME2P1
engchuan_15_ASD_discovery_cases-case13165_1823
Unknown
LINC01242
engchuan_15_ASD_discovery_cases-case14080_1360
Unknown
LINC01242
engchuan_15_ASD_discovery_cases-case14138_2360
Unknown
engchuan_15_ASD_discovery_cases-case14138_2360
Unknown
engchuan_15_ASD_discovery_cases-case14142_2400
Unknown
engchuan_15_ASD_discovery_cases-case14206_3320
Unknown
LINC01242
engchuan_15_ASD_discovery_cases-case14287_1410
Unknown
engchuan_15_ASD_discovery_cases-case14369_4820
Unknown
engchuan_15_ASD_discovery_cases-case16056_1571011001
Unknown
LINC01242
engchuan_15_ASD_discovery_cases-case16056_1571011001
Unknown
KCTD10P1,LINGO2
engchuan_15_ASD_discovery_cases-case16064_1571160001
Unknown
LINC01242
engchuan_15_ASD_discovery_cases-case17022_1
Unknown
LINC01242
engchuan_15_ASD_discovery_cases-case18100_302
Unknown
C2orf27AP2,RBMXP2,LINC01242
engchuan_15_ASD_discovery_cases-case18108_302
Unknown
C2orf27AP2,RBMXP2
engchuan_15_ASD_discovery_cases-case18111_304
Unknown
engchuan_15_ASD_discovery_cases-case18170_302
Unknown
MIR876
engchuan_15_ASD_discovery_cases-case20041_1248001
Unknown
LINGO2
engchuan_15_ASD_discovery_cases-case20151_1636001
Unknown
engchuan_15_ASD_discovery_cases-case20185_1714001
Unknown
LINC01242
engchuan_15_ASD_discovery_cases-case2190_1
Unknown
engchuan_15_ASD_discovery_cases-case2294_1
Unknown
engchuan_15_ASD_discovery_cases-case3118_3
Unknown
engchuan_15_ASD_discovery_cases-case3389_3
Unknown
KCTD10P1,LINGO2
engchuan_15_ASD_discovery_cases-case4053_1
Unknown
LINC01242
engchuan_15_ASD_discovery_cases-case4157_1
Unknown
LINC01242
engchuan_15_ASD_discovery_cases-case4159_1
Unknown
LINGO2
engchuan_15_ASD_discovery_cases-case4161_1
Unknown
SLC4A1APP1,C2orf27AP2,RBMXP2,LINC01242
engchuan_15_ASD_discovery_cases-case4182_1
Unknown
engchuan_15_ASD_discovery_cases-case4466_1
Unknown
SLC4A1APP1,LINC01242
engchuan_15_ASD_discovery_cases-case4504_1
Unknown
SLC4A1APP1,LINC01242
engchuan_15_ASD_discovery_cases-case5211_3
Unknown
KCTD10P1,LINGO2
engchuan_15_ASD_discovery_cases-case5225_3
Unknown
LINGO2
engchuan_15_ASD_discovery_cases-case5304_3
Unknown
LINGO2
engchuan_15_ASD_discovery_cases-case5442_3
Unknown
RBMXP2
engchuan_15_ASD_discovery_cases-case5510_3
Unknown
SLC4A1APP1,LINC01242
engchuan_15_ASD_discovery_cases-case5561_3
Unknown
KCTD10P1,LINGO2
engchuan_15_ASD_discovery_cases-case6005_5
Unknown
KCTD10P1,LINGO2
engchuan_15_ASD_discovery_cases-case6129_5
Unknown
LINC01242
engchuan_15_ASD_discovery_cases-case8152_201
Unknown
engchuan_15_ASD_discovery_cases-case8539_201
Unknown
LINGO2
engchuan_15_ASD_discovery_cases-case8554_201
Unknown
SLC25A6P2
engchuan_15_ASD_discovery_cases-case8636_201
Unknown
LINC01242
engchuan_15_ASD_discovery_cases-case8668_201
Unknown
gai_11_ASD_discovery_cases-AU1107301
Inherited
LINGO2 (intronic)
gai_11_ASD_discovery_cases-AU1107302
Inherited
LINGO2 (intronic)
gai_11_ASD_discovery_cases-AU1372301
Inherited
0 genes
gai_11_ASD_discovery_cases-AU1607307
Inherited
0 genes
gai_11_ASD_discovery_cases-AU1921304
Inherited
LINGO2
gai_11_ASD_discovery_cases-AU1921305
Inherited
LINGO2
gai_11_ASD_replication_cases-AU027304
Inherited
KRT18P36,RPS26P2
gai_11_ASD_replication_cases-AU080004
Inherited
LINGO2 (intronic)
gai_11_ASD_replication_cases-AU080005
Inherited
LINGO2 (intronic)
gai_11_ASD_replication_cases-AU1048301
Inherited
0 genes
gazzellone_14_ASD_discovery_cases-case511-3
qPCR or Taqman assay
Maternal
Unknown
Unknown
LINGO2
gazzellone_14_ASD_discovery_cases-case694-3
qPCR or Taqman assay
Paternal
Unknown
Unknown
KCTD10P1,LINGO2
kousoulidou_13_ASD_discovery_cases-patient13
qPCR
Paternal
Unknown
Unknown
MIR876
krumm_13_ASD_discovery_cases-case12252.p1
Paternal
Simplex
Not segregated
RNU4ATAC15P,B4GALT1-AS1,SPINK4,BAG1,B4GALT1
krumm_15_ASD_discovery_cases-case11917.p1
Illumina 1MDuo
Maternal
Simplex
Segregated
RNU4ATAC15P,B4GALT1-AS1,SPINK4,BAG1,B4GALT1
krumm_15_ASD_discovery_cases-case12139.p1
Illumina 1MDuo
Paternal
Simplex
Segregated
MIR876,MIR873
krumm_15_ASD_discovery_cases-case12252.p1
Illumina 1MDuo
Paternal
Simplex
Not segregated (CNV in unaffected sibling)
RNU4ATAC15P,B4GALT1-AS1,SPINK4,BAG1,B4GALT1
krumm_15_ASD_discovery_cases-case12924.p1
Illumina 1MDuo
Paternal
Simplex
Not segregated (CNV in unaffected sibling)
APTX
leppa_16_ASD_discovery_cases-AU1858301
Maternal
Multiplex
Segregated (CNV present in all three affected siblings, not present in unaffected siblings)
KCTD10P1,MIR876,MIR873,ME2P1,SLC4A1APP1,C2orf27AP2,RBMXP2,KRT18P66,KRT18P36,RPS26P2,FTLP4,HSPA8P17,SLC25A6P2,LINGO2,LINC01242
leppa_16_ASD_discovery_cases-AU1858302
Maternal
Multiplex
Segregated (CNV present in all three affected siblings, not present in unaffected siblings)
KCTD10P1,MIR876,MIR873,ME2P1,SLC4A1APP1,C2orf27AP2,RBMXP2,KRT18P66,KRT18P36,RPS26P2,FTLP4,HSPA8P17,SLC25A6P2,LINGO2,LINC01242
leppa_16_ASD_discovery_cases-AU1858304
Maternal
Multiplex
Segregated (CNV present in all three affected siblings, not present in unaffected siblings)
KCTD10P1,MIR876,MIR873,ME2P1,SLC4A1APP1,C2orf27AP2,RBMXP2,KRT18P66,KRT18P36,RPS26P2,FTLP4,HSPA8P17,SLC25A6P2,LINGO2,LINC01242
levy_11_ASD_discovery_cases-11660.p1
De novo
Simplex
Segregated
FTLP4
maini_18_ASD/DD/ID_discovery_cases-case_unknown209
Paternal
Unknown
Unknown
SLC4A1APP1,C2orf27AP2,RBMXP2,LINC01242
maini_18_ASD/DD/ID_discovery_cases-case_unknown210
Paternal
Unknown
Unknown
SLC4A1APP1,C2orf27AP2,RBMXP2,LINC01242
marshall_08_ASD_discovery_cases-SK0210-004
qPCR, qmPCR
Unknown
NA
NA
KCTD10P1,MIR876,MIR873,LINGO2
o'roak_12_ASD_discovery_cases-case11707.p1
aCGH, Sanger sequencing
Maternal
Simplex (quad)
Unknown
LINGO2
pinto_10_ASD_discovery_cases-case1116_4
Illumina550;Affy5.0
paternal
NA
NA
KRT18P36,RPS26P2
pinto_10_ASD_discovery_cases-case5211_3
Agilent1M
maternal
NA
NA
KCTD10P1,LINGO2
pinto_10_ASD_discovery_cases-case5225_3
Agilent1M-Maternal
maternal
NA
NA
LINGO2
pinto_10_ASD_discovery_cases-case5304_3
Agilent1M-Paternal
paternal
NA
NA
LINGO2
pinto_10_ASD_discovery_cases-case5442_3
Agilent1M
maternal
NA
NA
RBMXP2
pinto_10_ASD_discovery_cases-case5510_3
Agilent1M
maternal
NA
NA
SLC4A1APP1,LINC01242
prasad_12_ASD_discovery_cases-case153119L
Unknown
Unknown
Unknown
0 genes
prasad_12_ASD_discovery_cases-case57601
Unknown
Unknown
Unknown
MIR873,LINGO2,MIR876
sajan_13_ACC/CBLH/PMG_discovery_cases-case1070-0
Not tested by qPCR
Unknown
Unknown
Unknown
LINGO2
sajan_13_ACC/CBLH/PMG_discovery_cases-caseLR02-301
Not tested by qPCR
Unknown
Unknown
Unknown
KCTD10P1,LINGO2
sanders_11_ASD_discovery_cases-11080.p1
Paternal
Simplex (trio)
NA
LINGO2
sanders_11_ASD_discovery_cases-11229.p1
Maternal
Simplex (quad-proband matched)
Not segregated
KCTD10P1,LINGO2
sanders_11_ASD_discovery_cases-11258.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11297.p1
Maternal
Simplex (trio)
NA
sanders_11_ASD_discovery_cases-11325.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11378.p1
Paternal
Simplex (quad-proband matched)
Not segregated
LINGO2
sanders_11_ASD_discovery_cases-11499.p1
Paternal
Simplex (quad-proband matched)
Not segregated
LINC01242
sanders_11_ASD_discovery_cases-11520.p1
Paternal
Simplex (quad-proband matched)
Not segregated
KCTD10P1,LINGO2
sanders_11_ASD_discovery_cases-11565.p1
Paternal
Simplex (quad-proband unmatched)
Unknown
LINGO2
sanders_11_ASD_discovery_cases-11616.p1
Paternal
Simplex (quad-proband matched)
Not segregated
KCTD10P1,LINGO2
sanders_11_ASD_discovery_cases-11707.p1
Maternal
Simplex (quad-proband matched)
Not segregated
LINGO2
sanders_11_ASD_discovery_cases-11800.p1
Maternal
Simplex (quad-proband unmatched)
Unknown
sanders_11_ASD_discovery_cases-11918.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12076.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12139.p1
Paternal
Simplex (trio)
NA
MIR876,MIR873
sanders_11_ASD_discovery_cases-12221.p1
Unknown
Simplex (quad-proband unmatched)
Unknown
sanders_11_ASD_discovery_cases-12243.p1
Maternal
Simplex (quad-proband matched)
Not segregated
C2orf27AP2,RBMXP2
sanders_11_ASD_discovery_cases-12301.p1
Paternal
Simplex (quad-proband matched)
Not segregated
KCTD10P1,LINGO2
sanders_11_ASD_discovery_cases-12367.p1
Paternal
Simplex (quad-proband matched)
Not segregated
LINGO2
sanders_11_ASD_discovery_cases-12480.p1
Paternal
Simplex (quad-proband unmatched)
Unknown
KCTD10P1,LINGO2
sanders_11_ASD_discovery_cases-12507.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12616.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12642.p1
Paternal
Simplex (quad-proband matched)
Not segregated
LINC01242
sanders_11_ASD_discovery_cases-12650.p1
Maternal
Simplex (quad-proband matched)
Not segregated
KCTD10P1,LINGO2
sanders_11_ASD_discovery_cases-12754.p1
Maternal
Simplex (trio)
NA
LINGO2
sanders_11_ASD_discovery_cases-13065.p1
Paternal
Simplex (trio)
NA
sanders_11_ASD_discovery_cases-13120.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-13296.p1
Maternal
Simplex (quad-proband matched)
Not segregated
yin_16_ASD_discovery_cases-case346
Unknown
Unknown
Unknown
MIR876,MIR873
Controls
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
engchuan_15_ASD_discovery_controls-control110036005502_
Unknown
SLC4A1APP1,LINC01242
engchuan_15_ASD_discovery_controls-control110036014751_
Unknown
KCTD10P1,LINGO2
engchuan_15_ASD_discovery_controls-control110036015360_
Unknown
KCTD10P1,LINGO2
engchuan_15_ASD_discovery_controls-control110036019115_
Unknown
MIR876,MIR873
engchuan_15_ASD_discovery_controls-control110036019552_
Unknown
KCTD10P1,LINGO2
engchuan_15_ASD_discovery_controls-control110036025344_
Unknown
KCTD10P1,LINGO2
engchuan_15_ASD_discovery_controls-controlB106347_1007873601
Unknown
engchuan_15_ASD_discovery_controls-controlB354433_1007854022
Unknown
C2orf27AP2,RBMXP2,KRT18P66,KRT18P36
engchuan_15_ASD_discovery_controls-controlB395840_1007872297
Unknown
KCTD10P1,LINGO2
engchuan_15_ASD_discovery_controls-controlB395936_1007853800
Unknown
LINGO2
engchuan_15_ASD_discovery_controls-controlB401883_1007874319
Unknown
KCTD10P1,LINGO2
engchuan_15_ASD_discovery_controls-controlB458066_1007853853
Unknown
C2orf27AP2,RBMXP2
engchuan_15_ASD_discovery_controls-controlB640901_1007854138
Unknown
LINGO2
engchuan_15_ASD_discovery_controls-controlB686368_1007854140
Unknown
LINC01242
engchuan_15_ASD_discovery_controls-controlB746394_1007874345
Unknown
KCTD10P1,LINGO2
engchuan_15_ASD_discovery_controls-controlB749532_1007845879
Unknown
KCTD10P1,LINGO2
engchuan_15_ASD_discovery_controls-controlB765566_1007872601
Unknown
engchuan_15_ASD_discovery_controls-controlB808137_1007875273
Unknown
SLC25A6P2,MTATP6P30,HMGB3P23,LINC01243,MTCO3P30
engchuan_15_ASD_discovery_controls-controlB853098_1007874651
Unknown
SLC4A1APP1,C2orf27AP2,LINC01242
engchuan_15_ASD_discovery_controls-controlB941932_1007873623
Unknown
SLC25A6P2
engchuan_15_ASD_discovery_controls-controlB968534_1007842350
Unknown
KCTD10P1,LINGO2
engchuan_15_ASD_discovery_controls-controlB981860_1007871680
Unknown
LINGO2
engchuan_15_ASD_discovery_controls-controlB983431_1007853825
Unknown
LINGO2
engchuan_15_ASD_discovery_controls-controlHABC_900125_900125
Unknown
LINC01242
engchuan_15_ASD_discovery_controls-controlHABC_900233_900233
Unknown
KCTD10P1,LINGO2
engchuan_15_ASD_discovery_controls-controlHABC_900240_900240
Unknown
engchuan_15_ASD_discovery_controls-controlHABC_900274_900274
Unknown
engchuan_15_ASD_discovery_controls-controlHABC_900290_900290
Unknown
KCTD10P1,LINGO2
engchuan_15_ASD_discovery_controls-controlHABC_900333_900333
Unknown
LINC01242
engchuan_15_ASD_discovery_controls-controlHABC_900370_900370
Unknown
KCTD10P1,LINGO2
engchuan_15_ASD_discovery_controls-controlHABC_900405_900405
Unknown
LINGO2
engchuan_15_ASD_discovery_controls-controlHABC_900513_900513
Unknown
KCTD10P1,LINGO2
engchuan_15_ASD_discovery_controls-controlHABC_900588_900588
Unknown
engchuan_15_ASD_discovery_controls-controlHABC_900941_900941
Unknown
SLC4A1APP1,C2orf27AP2,RBMXP2,KRT18P66,KRT18P36,RPS26P2,LINC01242
engchuan_15_ASD_discovery_controls-controlHABC_901041_901041
Unknown
LINC01242
engchuan_15_ASD_discovery_controls-controlHABC_901092_901092
Unknown
LINGO2
engchuan_15_ASD_discovery_controls-controlHABC_901146_901146
Unknown
LINC01242
engchuan_15_ASD_discovery_controls-controlHABC_901157_901157
Unknown
LINC01242
engchuan_15_ASD_discovery_controls-controlHABC_901254_901254
Unknown
LINGO2
engchuan_15_ASD_discovery_controls-controlHABC_902446_902446
Unknown
engchuan_15_ASD_discovery_controls-controlHABC_902463_902463
Unknown
KCTD10P1,LINGO2
engchuan_15_ASD_discovery_controls-controlHABC_902469_902469
Unknown
LINGO2
engchuan_15_ASD_discovery_controls-controlHABC_902478_902478
Unknown
KCTD10P1,LINGO2
engchuan_15_ASD_discovery_controls-controlHABC_902520_902520
Unknown
engchuan_15_ASD_discovery_controls-controlHABC_902650_902650
Unknown
engchuan_15_ASD_discovery_controls-controlHABC_902759_902759
Unknown
KCTD10P1,LINGO2
kanduri_15_ASD_discovery_controls-control_split1079
Unknown
LINGO2 (intronic)
kousoulidou_13_ASD_discovery_controls-control11
Unknown
MIR876
krumm_13_ASD_discovery_controls-control12252.s1
Solid phase hybridization (Illumina 1M) and aCGH (Agilent SurePrint G3 4x180K)
Paternal
Simplex
RNU4ATAC15P,B4GALT1-AS1,SPINK4,BAG1,B4GALT1
krumm_15_ASD_discovery_controls-control12252.s1
Illumina 1MDuo
Paternal
RNU4ATAC15P,B4GALT1-AS1,SPINK4,BAG1,B4GALT1
krumm_15_ASD_discovery_controls-control12924.s1
Illumina 1MDuo
Paternal
APTX
sanders_11_ASD_discovery_controls-11229.s1
Maternal
Simplex (quad)
NA
KCTD10P1,LINGO2
sanders_11_ASD_discovery_controls-11318.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11355.s1
Paternal
Simplex (quad)
NA
LINGO2
sanders_11_ASD_discovery_controls-11360.s1
Maternal
Simplex (quad)
NA
LINGO2
sanders_11_ASD_discovery_controls-11378.s1
Paternal
Simplex (quad)
NA
LINGO2
sanders_11_ASD_discovery_controls-11458.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11485.s1
Paternal
Simplex (quad)
NA
LINGO2
sanders_11_ASD_discovery_controls-11489.s1
Paternal
Simplex (quad)
NA
SLC4A1APP1,LINC01242
sanders_11_ASD_discovery_controls-11499.s1
Paternal
Simplex (quad)
NA
SLC4A1APP1,LINC01242
sanders_11_ASD_discovery_controls-11520.s1
Paternal
Simplex (quad)
NA
KCTD10P1,LINGO2
sanders_11_ASD_discovery_controls-11707.s1
Maternal
Simplex (quad)
NA
LINGO2
sanders_11_ASD_discovery_controls-11718.s1
Maternal
Simplex (quad)
NA
KCTD10P1,LINGO2
sanders_11_ASD_discovery_controls-11872.s1
Maternal
Simplex (quad)
NA
LINGO2
sanders_11_ASD_discovery_controls-11981.s1
Maternal
Simplex (quad)
NA
LINGO2
sanders_11_ASD_discovery_controls-12076.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12227.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12228.s1
Paternal
Simplex (quad)
NA
KCTD10P1,LINGO2
sanders_11_ASD_discovery_controls-12271.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12301.s1
Paternal
Simplex (quad)
NA
KCTD10P1,LINGO2
sanders_11_ASD_discovery_controls-12616.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12618.s1
Paternal
Simplex (quad)
NA
LINGO2
sanders_11_ASD_discovery_controls-12650.s1
Maternal
Simplex (quad)
NA
KCTD10P1,LINGO2
sanders_11_ASD_discovery_controls-12739.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12879.s1
Paternal
Simplex (quad)
NA
LINGO2
sanders_11_ASD_discovery_controls-13005.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-13120.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-13136.s1
Unknown
Simplex (quad)
NA
No Animal Model Data Available