19q13.31CNV Type: Deletion-Duplication
Largest CNV size: 589075 bp
Statistics Box:
Number of Reports: 19
Number of Reports: 19
Summary Information
Summary statement in development
Additional Locus Information
References
Major Reports
Title
Author, Year
Report Class
CNV Type
Functional impact of global rare copy number variation in autism spectrum disorders.
Deletion
An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabili...
Deletion-Duplication
Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations.
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-Duplication
Relative burden of large CNVs on a range of neurodevelopmental phenotypes.
Deletion-Duplication
A discovery resource of rare copy number variations in individuals with autism spectrum disorder.
Duplication
Refinement and discovery of new hotspots of copy-number variation associated with autism spectrum disorder.
Deletion
Contribution of copy number variants involving nonsense-mediated mRNA decay pathway genes to neuro-developmental disorders.
Deletion-Duplication
Rare exonic deletions implicate the synaptic organizer Gephyrin (GPHN) in risk for autism, schizophrenia and seizures.
Deletion
Global increases in both common and rare copy number load associated with autism.
Deletion
Identification of small exonic CNV from whole-exome sequence data and application to autism spectrum disorder.
Deletion-Duplication
Both rare and de novo copy number variants are prevalent in agenesis of the corpus callosum but not in cerebellar hypoplasia or polymicrogyria.
Duplication
Performance of case-control rare copy number variation annotation in classification of autism.
Deletion-Duplication
The landscape of copy number variations in Finnish families with autism spectrum disorders.
Deletion
Copy number variation analysis of patients with intellectual disability from North-West Spain.
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
185711
17
3
20
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
184541
1
0
1
girirajan_11_ASD_discovery_cases
ASD cases with sporadic autism from the Simons Simplex Collection (SSC)
336
Diagnosis of ASD based on meeting criteria on ADOS, ADI-R, and expert clinical judgment. 246 cases with no intellectual disability, 90 cases with intellectual disability. Exclusion criteria: significant hearing, vision, or motor problems; significant birth complications; a diagnosis of ASD-related disorders, such as Fragile X; or having a relative (up to 3rd degree) with ASD or sibling showing ASD-related symptoms.
582248
8
1
9
girirajan_13a_ASD_discovery_cases
1979 simplex cases from the Simons Simplex Collection (SSC), 579 multiplex cases from AGRE.
2588
Diagnosis of ASD based on meeting criteria on the Autism Diagnostic Observation Schedule (ADOS) and on the Autism Diagnostic Interview, Revised (ADI-R)
NA
NA
766000
2
0
2
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
582248
9
0
9
kaminsky_11_DD/ID/ASD_discovery_cases
Cases from the International Standards for Cytogenomic Arrays (ISCA) consortium
15749
Unexplained developmental delay, intellectual disability, dysmorphic features, multiple congenital anomalies, autism spectrum disorders, or clinical features suggestive of a chromosomal syndrome
NA
NA
514932
2
3
5
kanduri_15_ASD_discovery_cases
Autistic cases from an initial sample of 83 Finnish families comprising 257 family members following quality control
80
Diagnosis of ASD based on DSM-IV, 4th edition, or ICD-10 criteria; patients screened based on Childhood Autism Rating Scale (CARS), Asperger Syndrome Screening Questionnaire, and Asperger's Syndrome Diagnostic Interview.
N/A
N/A
169239
4
0
4
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
2517
1
0
1
krumm_15_ASD_discovery_cases
Probands from the Simons Simplex Collection
2377
Diagnosis of ASD
N/A
N/A
81111
6
1
7
levy_11_ASD_discovery_cases
Autistic probands from 887 families from the Simons Simplex Collection (SSC)
858
ASD
87.06% Male
589075
1
1
2
lionel_13_ASD/SCZ/EP_discovery_cases
Patient cohort composed of 1158 Canadian ASD patients, 72 Austrian ASD patients, 450 Canadian schizophrenia patients, and a clinical dataset of 3704 individuals with primary diagnosis of ASD and/or seizure disorder referred for clinical microarray testing at the Mayo Clinic cytogenetics laboratory.
5384
ASD (n=1230), schizophrenia (n=450), and ASD and/or seizure disorder (n=3704). Canadian and Austrian ASD patients met criteria for ASD diagnosis based on ADI-R and/or ADOS.
NA
NA
53205
1
0
1
nguyen_13_DD/ID/MCA/ASD_discovery_cases
Patients from the Developmental Gene Anatomy Project at Harvard Medical School (DGAP), the Developmental Gene Discovery Project at Georgia Health Sciences University (DGDP), the National Institute of General Medical Sciences Human Genetic Cell Repository (NIGMS), the Signature Genomic Laboratories Genoglyphix Chromosome Aberration Database, and DECIPHER
57365
Predominant cohort diagnosis of developmental delay/intellectual disability and/or mulitple congenital anomalies (MCA); 5 cases with additional diagnosis of autism/ASD
N/A
N/A
N/A
3
3
6
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
39502
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
34503
1
0
1
poultney_13_ASD_discovery_cases
ASD cases of European ancestry from AGRE retained after filtering (original cohort size of 432 cases)
299
Cases diagnosed with ASD
N/A
79.86% Male (before filtering)
503489
1
4
5
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
78164
0
2
2
quintela_17_DD/ID_discovery_cases
Galician (NW Spain) patients recruited from the Complexo Hospitalario Universitario de Santiago de Compostela and referred to the Fundacion Publica Galega de Medicina Xenomica for genetic study
573
All participants had a clinical diagnosis of idiopathic intellectual disability (ID) or global developmental delay (DD) with or without another medical condition [e.g. autism spectrum disorder (ASD), attention deficit hyperactivity disorder (ADHD), epilepsy, dysmorphic features, and/or congenital anomalies]
Range, 3 months-18 years
60.38% Male
159893
1
0
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
205794
0
1
1
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
76569
8
1
9
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
203363
18
1
19
girirajan_11_ASD_discovery_controls
Control individuals ascertained by NIMH Genetics Initiative. DNA samples from these individuals were obtained from the Rutgers Univ. Cell & DNA Repository.
337
Control. Individuals screened specifically for eight mental health disorders.
582248
0
0
0
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
582916
11
0
11
kaminsky_11_DD/ID/ASD_discovery_controls
Controls from the International Standards for Cytogenomic Arrays (ISCA) consortium
10118
Controls
NA
NA
NA
NA
NA
NA
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
48711
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
2517
2
0
2
krumm_15_ASD_discovery_controls
Unaffected siblings from quad families from the Simons Simplex Collection
1786
Control
N/A
N/A
2517
3
1
4
levy_11_ASD_discovery_controls
Unaffected siblings of autistic probands from 887 families from the Simons Simplex Collection (SSC)
863
Control
47.97% Male
589075
1
1
2
nguyen_13_DD/ID/MCA/ASD_discovery_controls
Control data from the Database of Genomic Variants (DGV, n=12,145) and a published dataset of 8,329 individuals from Moriarty et al., 1998.
20474
Control
N/A
N/A
N/A
0
0
0
poultney_13_ASD_discovery_controls
Controls matched for European ancestry from NIMH and CEPH retained after filtering (original cohort size of 379 controls)
260
Control
N/A
47.49% Male (before filtering)
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)
78164
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.
62601
7
1
8
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_replication_cases
European
Solid phase hybridization
Illumina Infinium II HumanHap550 BeadChip
BeadStudio 3.0
None
girirajan_11_ASD_discovery_cases
aCGH
Custom microarray targeting 107 genomic hotspot regions (Roche NimbleGen Hotspot v1.0 array; 12 x 135K)
HMM
None
girirajan_13a_ASD_discovery_cases
NA
aCGH
Custom microarray with a high density of probes targeted to 1,367 regions with a susceptible genomic architecture
ADM-2
Agilent Genomic Workbench
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
kaminsky_11_DD/ID/ASD_discovery_cases
NA
aCGH
Agilent 44K, Agilent 105K
Feature Extraction, DNA Analytics
FISH, qPCR, MLPA, aCGH, standard G-banded chromosome analysis
kanduri_15_ASD_discovery_cases
Finnish
Solid phase hybridization
Illumina Human OmniExpress-12v1.0 BeadChip
QuantiSNP, PennCNV
Illumina BeadStudio
None
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)
levy_11_ASD_discovery_cases
aCGH
NimbleGen HD2
HMM
lionel_13_ASD/SCZ/EP_discovery_cases
NA
aCGH, array SNP
Agilent ISCA 44K, Agilent 180K, Affymetrix 6.0
Agilent DNA Analytics, Birdsuite, iPattern, Affymetrix Genotyping Console
None
nguyen_13_DD/ID/MCA/ASD_discovery_cases
N/A
aCGH
SignatureChip BACs aCGH, SignatureChip Oligo whole-genome microarray
N/A
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)
poultney_13_ASD_discovery_cases
European
WES
Agilent SureSelect Human All Exon v.2
XHMM
None
prasad_12_ASD_discovery_cases
Canada
aCGH
Agilent 1M
ADM-2, DNAcopy (R Bioconductor)
DNA Analytics v4.0.85 (Agilent), DNAcopy
None
quintela_17_DD/ID_discovery_cases
North West Spain
Array SNP
Affymetrix Cytogenetics Whole-Genome 2M SNP array, Affymetrix CytoScan HD
Affymetrix ChAS v.1.2.2
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
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_11_ASD_discovery_controls
aCGH
Custom microarray targeting 107 genomic hotspot regions (Roche NimbleGen Hotspot v1.0 array; 12 x 135K)
HMM
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
kaminsky_11_DD/ID/ASD_discovery_controls
NA
aCGH
Agilent 44K, Agilent 105K
Feature Extraction, DNA Analytics
kanduri_15_ASD_discovery_controls
Finnish
Solid phase hybridization
Illumina Infinium HD Human610-Quad BeadChip
QuantiSNP, PennCNV
Illumina BeadStudio
None
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
None
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
nguyen_13_DD/ID/MCA/ASD_discovery_controls
N/A
N/A
N/A
N/A
poultney_13_ASD_discovery_controls
European
WES
Agilent SureSelect Human All Exon v.2
XHMM
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
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)
43158934
43344645
185712
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case1240_3
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
43416460
43450962
34503
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case13157_1743
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
43288155
43344645
56491
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case14234_1920
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
43288155
43344645
56491
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case14234_1920
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
43380933
43457468
76536
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case14329_4430
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
43158934
43344645
185712
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case14350_4640
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
43158934
43344645
185712
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case14394_5030
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
43906694
43987055
80362
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case1947_301
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
43158934
43344645
185712
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case20032_1226001
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
43261678
43335936
74259
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case3098_3
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
43288155
43344645
56491
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case3098_3
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
43394867
43457468
62602
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case4243_1
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
43416460
43450962
34503
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case5273_3
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
43158934
43344645
185712
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case6227_4
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
43158934
43344645
185712
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case6384_3
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
43380933
43434336
53404
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case8419_201
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
43158934
43341441
182508
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)
43158934
43344645
185712
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case8743_202
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
43394867
43457468
62602
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case8743_202
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
43286599
43355513
68915
GRCh38
Deletion
No
gai_11_ASD_replication_cases-AU075308
Autism
47975960
48160500
184541
Unknown
Deletion
No
girirajan_11_ASD_discovery_cases-Si101
7
M
Autism
ADOS score: 7. Vineland composite score: 66.
Severe mental retardation/intellectual disability. Full-scale IQ, 39; Verbal IQ, 30; Non-verbal IQ, 48.
42723963
43271530
547568
GRCh38
Deletion
No
girirajan_11_ASD_discovery_cases-Si119
9
M
Autism
ADOS score: 10. Vineland composite score: 84.
No mental retardation/intellectual disability. Full-scale IQ, 90; Verbal IQ, 86; Non-verbal IQ, 94.
42723963
43069011
345049
GRCh38
Deletion
No
girirajan_11_ASD_discovery_cases-Si17
9
M
Autism
ADOS score: 7. Vineland composite score: 91.
No mental retardation/intellectual disability. Full-scale IQ, 100; Verbal IQ, 102; Non-verbal IQ, 100.
42723963
43271530
547568
GRCh38
Deletion
No
girirajan_11_ASD_discovery_cases-Si232
7
M
Autism
ADOS score: 8. Vineland composite score: 72.
No mental retardation/intellectual disability. Full-scale IQ, 77; Verbal IQ, 88; Non-verbal IQ, 71.
42689282
43034592
345311
GRCh38
Deletion
No
girirajan_11_ASD_discovery_cases-Si30
11
M
Autism
ADOS score: 8. Vineland composite score: 71.
No mental retardation/intellectual disability. Full-scale IQ, 106; Verbal IQ, 113; Non-verbal IQ, 102.
42689282
43271530
582249
GRCh38
Deletion
No
girirajan_11_ASD_discovery_cases-Si4
13
M
Autism
ADOS score: 6. Vineland composite score: 54.
Severe mental retardation/intellectual disability. Full-scale IQ, 34; Verbal IQ, 24; Non-verbal IQ, 39.
42757621
43204405
446785
GRCh38
Deletion
No
girirajan_11_ASD_discovery_cases-Si71
15
M
Autism
ADOS score: 5. Vineland composite score: 96.
No mental retardation/intellectual disability. Full-scale IQ, 127; Verbal IQ, 128; Non-verbal IQ, 124.
42723963
43069011
345049
GRCh38
Deletion
No
girirajan_11_ASD_discovery_cases-Si75
10
M
Autism
ADOS score: 5. Vineland composite score: 81.
No mental retardation/intellectual disability. Full-scale IQ, 87; Verbal IQ, 84; Non-verbal IQ, 90.
42757621
43069011
311391
GRCh38
Deletion
No
girirajan_11_ASD_discovery_cases-Si96
15
M
Autism
ADOS score: 9. Vineland composite score: 58.
Mild mental retardation/intellectual disability. Full-scale IQ, 56; Verbal IQ, 58; Non-verbal IQ, 55.
42864807
43305168
440362
GRCh38
Duplication
No
girirajan_13a_ASD_discovery_cases-AU1448301
N/A
N/A
ASD
Diagnosis of ASD based on meeting criteria on the Autism Diagnostic Observation Schedule (ADOS) and on the Autism Diagnostic Interview, Revised (ADI-R)
N/A
44403999
45174902
770904
GRCh38
Deletion
No
girirajan_13a_ASD_discovery_cases-AU3019302
N/A
N/A
ASD
Diagnosis of ASD based on meeting criteria on the Autism Diagnostic Observation Schedule (ADOS) and on the Autism Diagnostic Interview, Revised (ADI-R)
N/A
44403999
45174902
770904
GRCh38
Deletion
No
girirajan_13b_ASD_discovery_cases-20604100546
N/A
N/A
Autism
Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Caucasian
N/A
42689282
43204405
515124
GRCh38
Deletion
No
girirajan_13b_ASD_discovery_cases-21908109957
N/A
N/A
Autism
Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Caucasian
N/A
42689282
43204405
515124
GRCh38
Deletion
No
girirajan_13b_ASD_discovery_cases-29905103852
N/A
N/A
Autism
Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Hispanic
N/A
42757621
43069011
311391
GRCh38
Deletion
No
girirajan_13b_ASD_discovery_cases-3309110754
N/A
N/A
Autism
Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Caucasian
N/A
42655366
43034592
379227
GRCh38
Deletion
No
girirajan_13b_ASD_discovery_cases-33608110351
N/A
N/A
Autism
Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Caucasian
N/A
43001131
43338887
337757
GRCh38
Deletion
No
girirajan_13b_ASD_discovery_cases-40406106815
N/A
N/A
Autism
Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Asian
N/A
42723963
43271530
547568
GRCh38
Deletion
No
girirajan_13b_ASD_discovery_cases-45905104126
N/A
N/A
Autism
Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Asian
N/A
42689282
43204405
515124
GRCh38
Deletion
No
girirajan_13b_ASD_discovery_cases-62005104652
N/A
N/A
Autism
Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: African American
N/A
42689282
43271530
582249
GRCh38
Deletion
No
girirajan_13b_ASD_discovery_cases-909110667
N/A
N/A
Autism
Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Caucasian
N/A
42757621
43271530
513910
GRCh38
Deletion
No
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000805
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
42738643
43237158
498516
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000873
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
42738643
43237158
498516
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000980
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
42738643
43237158
498516
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004184
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
43303334
43576458
273125
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005332
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
43338231
43853163
514933
GRCh38
Duplication
Yes
kanduri_15_ASD_discovery_cases-case1591
N/A
N/A
ASD
Diagnosis of ASD based on DSM-IV, 4th edition, or ICD-10 criteria; patient screened based on Childhood Autism Rating Scale (CARS), Asperger Syndrome Screening Questionnaire, and/or Asperger's Syndrome Diagnostic Interview.
43678696
43835935
157240
Unknown
Deletion
No
kanduri_15_ASD_discovery_cases-case1592
N/A
N/A
ASD
Diagnosis of ASD based on DSM-IV, 4th edition, or ICD-10 criteria; patient screened based on Childhood Autism Rating Scale (CARS), Asperger Syndrome Screening Questionnaire, and/or Asperger's Syndrome Diagnostic Interview.
43678696
43835935
157240
Unknown
Deletion
No
kanduri_15_ASD_discovery_cases-case1831
N/A
N/A
ASD
Diagnosis of ASD based on DSM-IV, 4th edition, or ICD-10 criteria; patient screened based on Childhood Autism Rating Scale (CARS), Asperger Syndrome Screening Questionnaire, and/or Asperger's Syndrome Diagnostic Interview.
43647130
43695840
48711
Unknown
Deletion
No
kanduri_15_ASD_discovery_cases-case3062
N/A
N/A
ASD
Diagnosis of ASD based on DSM-IV, 4th edition, or ICD-10 criteria; patient screened based on Childhood Autism Rating Scale (CARS), Asperger Syndrome Screening Questionnaire, and/or Asperger's Syndrome Diagnostic Interview.
43666697
43835935
169239
Unknown
Deletion
No
krumm_13_ASD_discovery_cases-case13509.p1
N/A
F
ASD
ASD proband from SSC quad family 13509. SRS score of 89.
Full-scale IQ (FSIQ) score of 70.
43415880
43418397
2518
GRCh38
Deletion
No (not tested)
krumm_15_ASD_discovery_cases-case11141.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Trio
43415880
43418397
2518
GRCh38
Deletion
Yes
krumm_15_ASD_discovery_cases-case11161.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
44217792
44298903
81112
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_cases-case11526.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Trio
43494701
43497279
2579
GRCh38
Deletion
Yes
krumm_15_ASD_discovery_cases-case12461.p1
N/A
Female
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Trio
43415880
43418397
2518
GRCh38
Deletion
Yes
krumm_15_ASD_discovery_cases-case13509.p1
N/A
Female
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
43415880
43418397
2518
GRCh38
Deletion
Yes
krumm_15_ASD_discovery_cases-case13537.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
43415880
43418397
2518
GRCh38
Deletion
Yes
krumm_15_ASD_discovery_cases-case14210.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
43416098
43418397
2300
GRCh38
Deletion
Yes
levy_11_ASD_discovery_cases-11161.p1
NA
M
ASD
NA
NA
44214700
44308582
93883
GRCh38
Duplication
No
levy_11_ASD_discovery_cases-12366.p1
NA
M
ASD
NA
NA
42706891
43295965
589075
GRCh38
Deletion
No
lionel_13_ASD/SCZ/EP_discovery_cases-proband1
13 yrs.
F
ASD
Diagnosis of high-functioning ASD made following assessment at 13 years of age using ADOS and ADI-R. Birth/neonatal history: uncomplicated pregnancy; delivery at 38 weeks of gestation. Developmental milestones: walking at 12 months, otherwise had slow motor development and gait issues, which prompted ergotherapy; language delay with no speech at 2 yrs., followed by gradual speech development by 4 yrs. Language and communication evaluation: episodes of echolalia. Behavioral/psychiatric evaluation: up to 6 years of age, case continued to desire swaddling and had hypersensitivty to light and sound associated with self-injury (head banging, tearing hair). Dysmorphic features: none reported. Family history: non-consanguineous parents; no reported medical or neuropsychiatric conditions in parents or two older siblings.
Completed secondary school degree with exception of mathematics
43198881
43252085
53205
GRCh38
Deletion
No
nguyen_13_DD/ID/MCA/ASD_discovery_cases-patient235
N/A
N/A
DD/ID/MCA
N/A
N/A
N/A
N/A
N/A
GRCh37
Deletion
N/A
nguyen_13_DD/ID/MCA/ASD_discovery_cases-patient236
N/A
N/A
DD/ID/MCA
N/A
N/A
N/A
N/A
N/A
GRCh37
Deletion
N/A
nguyen_13_DD/ID/MCA/ASD_discovery_cases-patient237
N/A
N/A
DD/ID/MCA
N/A
N/A
N/A
N/A
N/A
GRCh37
Deletion
N/A
nguyen_13_DD/ID/MCA/ASD_discovery_cases-patient238
N/A
N/A
DD/ID/MCA
N/A
N/A
N/A
N/A
N/A
GRCh37
Duplication
N/A
nguyen_13_DD/ID/MCA/ASD_discovery_cases-patient239
N/A
N/A
DD/ID/MCA
N/A
N/A
N/A
N/A
N/A
GRCh37
Duplication
N/A
nguyen_13_DD/ID/MCA/ASD_discovery_cases-patient240
N/A
N/A
DD/ID/MCA
N/A
N/A
N/A
N/A
N/A
GRCh37
Duplication
N/A
o'roak_12_ASD_discovery_cases-case11141.p1
NA
M
ASD/Autism
No additional clinical info available.
High IQ. Non verbal IQ, 93
43416460
43455962
39503
GRCh38
Deletion
Yes
pinto_10_ASD_discovery_cases-case1240_3
NA
M
ASD
NA
NA
43416460
43450962
34503
GRCh38
Deletion
Yes
poultney_13_ASD_discovery_cases-case01HI2115A
N/A
M
ASD
ASD case from AGRE (AGRE ID AU058304; NDAR ID NDAR_INVUY327HPB)
43353853
43355783
1931
GRCh38
Deletion
No
poultney_13_ASD_discovery_cases-case04HI2957A
N/A
M
ASD
ASD case from AGRE (AGRE ID AU1242303; NDAR ID NDAR_INVRN798YE0)
43837053
44158119
321067
GRCh38
Duplication
No
poultney_13_ASD_discovery_cases-case04HI3174A
N/A
M
ASD
ASD case from AGRE (AGRE ID AU1087301; NDAR ID NDAR_INVRB961XT0)
43837053
44340541
503489
GRCh38
Duplication
No
poultney_13_ASD_discovery_cases-case99HI0922A
N/A
M
ASD
ASD case from AGRE (AGRE ID AU047903; NDAR ID NDAR_INVZX727FUX)
43837053
44340541
503489
GRCh38
Duplication
No
poultney_13_ASD_discovery_cases-case99HI0933A
N/A
M
ASD
ASD case from AGRE (AGRE ID AU017305; NDAR ID N/A)
43837053
44289198
452146
GRCh38
Duplication
No
prasad_12_ASD_discovery_cases-case103953
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
49040558
49060330
19773
Unknown
Duplication
No
prasad_12_ASD_discovery_cases-case58016
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
48575060
48653223
78164
Unknown
Duplication
No
quintela_17_DD/ID_discovery_cases-caseID_54
6 yrs.
M
Intellectual disability
Language delay, dysmorphic facial features
Intellectual disability
43856051
44015943
159893
GRCh38
Deletion
No
sajan_13_ACC/CBLH/PMG_discovery_cases-caseLR04-088
N/A
N/A
CBLH
Diagnosis of cerebellar hypoplasia (CBLH).
43117005
43322798
205794
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11141.p1
6.7
M
Autism
NA
Full-scale IQ, 87; non-verbal IQ, 93; verbal IQ, 81
43416460
43450962
34503
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11161.p1
7
M
Autism
NA
Full-scale IQ, 65; non-verbal IQ, 74; verbal IQ, 59
44217546
44294115
76570
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11526.p1
7.6
M
Autism
NA
Full-scale IQ, 89; non-verbal IQ, 92; verbal IQ, 85
43487828
43497227
9400
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12347.p1
8.8
M
Autism
NA
Full-scale IQ, 121; non-verbal IQ, 125; verbal IQ, 107
43659802
43661302
1501
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12362.p1
7.5
M
Autism
NA
Full-scale IQ, 122; non-verbal IQ, 119; verbal IQ, 121
43659802
43661302
1501
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12444.p1
9.5
F
Autism
NA
Full-scale IQ, 65; non-verbal IQ, 59; verbal IQ, 79
43659802
43661302
1501
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12998.p1
4.3
M
Autism
NA
Full-scale IQ, 109; non-verbal IQ, 116; verbal IQ, 93
43659802
43662223
2422
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-13039.p1
6.3
M
Autism
NA
Full-scale IQ, 121; non-verbal IQ, 135; verbal IQ, 93
43659802
43661302
1501
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-13196.p1
8.8
M
Autism
NA
Full-scale IQ, 92; non-verbal IQ, 91; verbal IQ, 95
43659802
43661302
1501
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-control110036018513_
N/A
N/A
Control
No previous psychiatric history
43158934
43344645
185712
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-control110036022341_
N/A
N/A
Control
No previous psychiatric history
43288155
43344645
56491
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-control110036023786_
N/A
N/A
Control
No previous psychiatric history
43158934
43344645
185712
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlB263027_1007875546
N/A
N/A
Control
No previous psychiatric history
43158934
43344645
185712
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlB391087_1007840223
N/A
N/A
Control
No previous psychiatric history
43158934
43344645
185712
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlB438744_1007854063
N/A
N/A
Control
No previous psychiatric history
43158934
43344645
185712
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlB877576_1007874042
N/A
N/A
Control
No previous psychiatric history
43158934
43344645
185712
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlHABC_900061_900061
N/A
N/A
Control
No previous psychiatric history
43416460
43450962
34503
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlHABC_900285_900285
N/A
N/A
Control
No previous psychiatric history
43416460
43450962
34503
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlHABC_900313_900313
N/A
N/A
Control
No previous psychiatric history
43412564
43450962
38399
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlHABC_900408_900408
N/A
N/A
Control
No previous psychiatric history
43158934
43344645
185712
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlHABC_900481_900481
N/A
N/A
Control
No previous psychiatric history
43158934
43344645
185712
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlHABC_900651_900651
N/A
N/A
Control
No previous psychiatric history
43158934
43344645
185712
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlHABC_900888_900888
N/A
N/A
Control
No previous psychiatric history
43286599
43355513
68915
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlHABC_900888_900888
N/A
N/A
Control
No previous psychiatric history
43380933
43457468
76536
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlHABC_901081_901081
N/A
N/A
Control
No previous psychiatric history
43158934
43344645
185712
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlHABC_901094_901094
N/A
N/A
Control
No previous psychiatric history
43158934
43362297
203364
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlHABC_901260_901260
N/A
N/A
Control
No previous psychiatric history
43158934
43344645
185712
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlHABC_902757_902757
N/A
N/A
Control
No previous psychiatric history
44174753
44275635
100883
GRCh38
Deletion
No
girirajan_13b_ASD_discovery_controls-12110113024
N/A
N/A
Control
Ethnicity: Caucasian
N/A
42622105
43069011
446907
GRCh38
Deletion
No
girirajan_13b_ASD_discovery_controls-20209111301
N/A
N/A
Control
Ethnicity: Caucasian
N/A
42723963
43271530
547568
GRCh38
Deletion
No
girirajan_13b_ASD_discovery_controls-24907108358
N/A
N/A
Control
Ethnicity: Caucasian
N/A
42723963
43305168
581206
GRCh38
Deletion
No
girirajan_13b_ASD_discovery_controls-27309111520
N/A
N/A
Control
Ethnicity: Caucasian
N/A
42723963
43271530
547568
GRCh38
Deletion
No
girirajan_13b_ASD_discovery_controls-30705103901
N/A
N/A
Control
Ethnicity: Hispanic
N/A
42723963
43204405
480443
GRCh38
Deletion
No
girirajan_13b_ASD_discovery_controls-3208108937
N/A
N/A
Control
Ethnicity: Mixed Race
N/A
42792465
43305168
512704
GRCh38
Deletion
No
girirajan_13b_ASD_discovery_controls-33006106538
N/A
N/A
Control
Ethnicity: Asian
N/A
42757621
43238282
480662
GRCh38
Deletion
No
girirajan_13b_ASD_discovery_controls-40706106823
N/A
N/A
Control
Ethnicity: Hispanic
N/A
42723963
43238282
514320
GRCh38
Deletion
No
girirajan_13b_ASD_discovery_controls-45706106971
N/A
N/A
Control
Ethnicity: Caucasian
N/A
42723963
43238282
514320
GRCh38
Deletion
No
girirajan_13b_ASD_discovery_controls-46506107005
N/A
N/A
Control
Ethnicity: Caucasian
N/A
42655366
43069011
413646
GRCh38
Deletion
No
girirajan_13b_ASD_discovery_controls-9905103520
N/A
N/A
Control
Ethnicity: Hispanic
N/A
42655366
43238282
582917
GRCh38
Deletion
No
kanduri_15_ASD_discovery_controls-control_split286
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
43647130
43695840
48711
Unknown
Deletion
No
krumm_13_ASD_discovery_controls-control12394.s1
N/A
M
Control
Unaffected sibling from SSC quad family 12394. SRS score of 36.
43415880
43418397
2518
GRCh38
Deletion
No (not tested)
krumm_13_ASD_discovery_controls-control13509.s1
N/A
F
Control
Unaffected sibling from SSC quad family 13509. SRS score of 44.
43415880
43418397
2518
GRCh38
Deletion
No (not tested)
krumm_15_ASD_discovery_controls-control11208.s1
N/A
Female
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
43415880
43418397
2518
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_controls-control13319.s1
N/A
Male
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
43415880
43418397
2518
GRCh38
Deletion
Yes
krumm_15_ASD_discovery_controls-control13509.s1
N/A
Female
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
43415880
43418397
2518
GRCh38
Deletion
Yes
krumm_15_ASD_discovery_controls-control13537.s1
N/A
Male
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
43415880
43418397
2518
GRCh38
Deletion
Yes
levy_11_ASD_discovery_controls-11208.s1
NA
F
Control
NA
NA
43398689
43456953
58265
GRCh38
Duplication
No
levy_11_ASD_discovery_controls-12366.s1
NA
F
Control
NA
NA
42706891
43295965
589075
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11208.s1
11.4
F
Control (matched sibling)
NA
NA
43394867
43457468
62602
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-12073.s1
7.3
F
Control (matched sibling)
NA
NA
43655981
43658145
2165
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12106.s1
10.9
F
Control (matched sibling)
NA
NA
43659802
43661302
1501
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12150.s1
10.3
F
Control (matched sibling)
NA
NA
43659802
43661302
1501
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12229.s1
7.8
F
Control (matched sibling)
NA
NA
43659802
43661302
1501
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12334.s1
4.2
M
Control (matched sibling)
NA
NA
42625292
42630526
5235
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12343.s1
8
F
Control (matched sibling)
NA
NA
43659802
43661302
1501
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12832.s1
4.5
F
Control (matched sibling)
NA
NA
43562706
43565498
2793
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
CEACAMP11,CEACAMP4,PSG5,PSG4,CEACAMP10,PSG9
engchuan_15_ASD_discovery_cases-case1240_3
Unknown
TEX101
engchuan_15_ASD_discovery_cases-case13157_1743
Unknown
CEACAMP4
engchuan_15_ASD_discovery_cases-case14234_1920
Unknown
CEACAMP4
engchuan_15_ASD_discovery_cases-case14234_1920
Unknown
TEX101
engchuan_15_ASD_discovery_cases-case14329_4430
Unknown
CEACAMP11,CEACAMP4,PSG5,PSG4,CEACAMP10,PSG9
engchuan_15_ASD_discovery_cases-case14350_4640
Unknown
CEACAMP11,CEACAMP4,PSG5,PSG4,CEACAMP10,PSG9
engchuan_15_ASD_discovery_cases-case14394_5030
Unknown
ZNF45,ZNF221,ZNF155
engchuan_15_ASD_discovery_cases-case1947_301
Unknown
CEACAMP11,CEACAMP4,PSG5,PSG4,CEACAMP10,PSG9
engchuan_15_ASD_discovery_cases-case20032_1226001
Unknown
CEACAMP11,CEACAMP4,PSG9
engchuan_15_ASD_discovery_cases-case3098_3
Unknown
CEACAMP4
engchuan_15_ASD_discovery_cases-case3098_3
Unknown
TEX101
engchuan_15_ASD_discovery_cases-case4243_1
Unknown
TEX101
engchuan_15_ASD_discovery_cases-case5273_3
Unknown
CEACAMP11,CEACAMP4,PSG5,PSG4,CEACAMP10,PSG9
engchuan_15_ASD_discovery_cases-case6227_4
Unknown
CEACAMP11,CEACAMP4,PSG5,PSG4,CEACAMP10,PSG9
engchuan_15_ASD_discovery_cases-case6384_3
Unknown
TEX101
engchuan_15_ASD_discovery_cases-case8419_201
Unknown
CEACAMP11,CEACAMP4,PSG5,PSG4,CEACAMP10,PSG9
engchuan_15_ASD_discovery_cases-case8636_201
Unknown
CEACAMP11,CEACAMP4,PSG5,PSG4,CEACAMP10,PSG9
engchuan_15_ASD_discovery_cases-case8743_202
Unknown
TEX101
engchuan_15_ASD_discovery_cases-case8743_202
Unknown
CEACAMP4,CD177
gai_11_ASD_replication_cases-AU075308
Inherited
PSG10, PSG1, PSG6, PSG7
girirajan_11_ASD_discovery_cases-Si101
Unknown
Simplex
CEACAMP6,PSG8-AS1,CEACAMP7,CEACAMP9,PSG8,PSG10P,PSG1,PSG6,PSG7,PSG11,CEACAMP8,PSG2,PSG5,PSG4,CEACAMP10,PSG3,PSG9
girirajan_11_ASD_discovery_cases-Si119
Unknown
Simplex
CEACAMP6,PSG8-AS1,CEACAMP7,PSG8,PSG10P,PSG1,PSG6,PSG7,PSG11,CEACAMP8,PSG2,PSG3
girirajan_11_ASD_discovery_cases-Si17
Unknown
Simplex
CEACAMP6,PSG8-AS1,CEACAMP7,CEACAMP9,PSG8,PSG10P,PSG1,PSG6,PSG7,PSG11,CEACAMP8,PSG2,PSG5,PSG4,CEACAMP10,PSG3,PSG9
girirajan_11_ASD_discovery_cases-Si232
Unknown
Simplex
CEACAMP6,PSG8-AS1,CEACAMP7,PSG8,PSG10P,PSG1,PSG6,PSG7,PSG11,PSG3
girirajan_11_ASD_discovery_cases-Si30
Unknown
Simplex
CEACAMP6,PSG8-AS1,CEACAMP7,CEACAMP9,PSG8,PSG10P,PSG1,PSG6,PSG7,PSG11,CEACAMP8,PSG2,PSG5,PSG4,CEACAMP10,PSG3,PSG9
girirajan_11_ASD_discovery_cases-Si4
Unknown
Simplex
CEACAMP6,PSG8-AS1,CEACAMP7,CEACAMP9,PSG8,PSG10P,PSG1,PSG6,PSG7,PSG11,CEACAMP8,PSG2,PSG5,PSG4
girirajan_11_ASD_discovery_cases-Si71
Unknown
Simplex
CEACAMP6,PSG8-AS1,CEACAMP7,PSG8,PSG10P,PSG1,PSG6,PSG7,PSG11,CEACAMP8,PSG2,PSG3
girirajan_11_ASD_discovery_cases-Si75
Unknown
Simplex
CEACAMP6,PSG8-AS1,CEACAMP7,PSG8,PSG10P,PSG1,PSG6,PSG7,PSG11,CEACAMP8,PSG2
girirajan_11_ASD_discovery_cases-Si96
Unknown
Simplex
CEACAMP7,CEACAMP9,CEACAMP11,CEACAMP4,PSG1,PSG6,PSG7,PSG11,CEACAMP8,PSG2,PSG5,PSG4,CEACAMP10,PSG9
girirajan_13a_ASD_discovery_cases-AU1448301
Unknown
Multiplex
Unknown
ZNF285B,MIR4531,CEACAM16,BCL3,MIR8085,APOC1,APOC1P1,APOC4,APOC4-APOC2,APOC2,RNU6-611P,EIF5AP3,ZNF180,CEACAM20,IGSF23,PVR,CEACAM19,CBLC,BCAM,NECTIN2,TOMM40,APOE,RELB,CLASRP,ZNF296,PPP1R37,NKPD1,TRAPPC6A,ZNF229,CEACAM22P,CLPTM1,GEMIN7-AS1,GEMIN7,MARK4
girirajan_13a_ASD_discovery_cases-AU3019302
Unknown
Multiplex
Unknown
ZNF285B,MIR4531,CEACAM16,BCL3,MIR8085,APOC1,APOC1P1,APOC4,APOC4-APOC2,APOC2,RNU6-611P,EIF5AP3,ZNF180,CEACAM20,IGSF23,PVR,CEACAM19,CBLC,BCAM,NECTIN2,TOMM40,APOE,RELB,CLASRP,ZNF296,PPP1R37,NKPD1,TRAPPC6A,ZNF229,CEACAM22P,CLPTM1,GEMIN7-AS1,GEMIN7,MARK4
girirajan_13b_ASD_discovery_cases-20604100546
Unknown
Unknown
Unknown
CEACAMP6,PSG8-AS1,CEACAMP7,CEACAMP9,PSG8,PSG10P,PSG1,PSG6,PSG7,PSG11,CEACAMP8,PSG2,PSG5,PSG4,PSG3
girirajan_13b_ASD_discovery_cases-21908109957
Unknown
Unknown
Unknown
CEACAMP6,PSG8-AS1,CEACAMP7,CEACAMP9,PSG8,PSG10P,PSG1,PSG6,PSG7,PSG11,CEACAMP8,PSG2,PSG5,PSG4,PSG3
girirajan_13b_ASD_discovery_cases-29905103852
Unknown
Unknown
Unknown
CEACAMP6,PSG8-AS1,CEACAMP7,PSG8,PSG10P,PSG1,PSG6,PSG7,PSG11,CEACAMP8,PSG2
girirajan_13b_ASD_discovery_cases-3309110754
Unknown
Unknown
Unknown
RPS10P28,CEACAMP6,PSG8-AS1,CEACAMP7,CEACAMP5,PSG8,PSG10P,PSG1,PSG6,PSG7,PSG11,PSG3
girirajan_13b_ASD_discovery_cases-33608110351
Unknown
Unknown
Unknown
CEACAMP9,CEACAMP11,CEACAMP4,PSG11,CEACAMP8,PSG2,PSG5,PSG4,CEACAMP10,PSG9
girirajan_13b_ASD_discovery_cases-40406106815
Unknown
Unknown
Unknown
CEACAMP6,PSG8-AS1,CEACAMP7,CEACAMP9,PSG8,PSG10P,PSG1,PSG6,PSG7,PSG11,CEACAMP8,PSG2,PSG5,PSG4,CEACAMP10,PSG3,PSG9
girirajan_13b_ASD_discovery_cases-45905104126
Unknown
Unknown
Unknown
CEACAMP6,PSG8-AS1,CEACAMP7,CEACAMP9,PSG8,PSG10P,PSG1,PSG6,PSG7,PSG11,CEACAMP8,PSG2,PSG5,PSG4,PSG3
girirajan_13b_ASD_discovery_cases-62005104652
Unknown
Unknown
Unknown
CEACAMP6,PSG8-AS1,CEACAMP7,CEACAMP9,PSG8,PSG10P,PSG1,PSG6,PSG7,PSG11,CEACAMP8,PSG2,PSG5,PSG4,CEACAMP10,PSG3,PSG9
girirajan_13b_ASD_discovery_cases-909110667
Unknown
Unknown
Unknown
CEACAMP6,PSG8-AS1,CEACAMP7,CEACAMP9,PSG8,PSG10P,PSG1,PSG6,PSG7,PSG11,CEACAMP8,PSG2,PSG5,PSG4,CEACAMP10,PSG9
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000805
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
CEACAMP6,PSG8-AS1,CEACAMP7,CEACAMP9,PSG8,PSG10P,PSG1,PSG6,PSG7,PSG11,CEACAMP8,PSG2,PSG5,PSG4,CEACAMP10,PSG3,PSG9
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000873
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
CEACAMP6,PSG8-AS1,CEACAMP7,CEACAMP9,PSG8,PSG10P,PSG1,PSG6,PSG7,PSG11,CEACAMP8,PSG2,PSG5,PSG4,CEACAMP10,PSG3,PSG9
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000980
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
CEACAMP6,PSG8-AS1,CEACAMP7,CEACAMP9,PSG8,PSG10P,PSG1,PSG6,PSG7,PSG11,CEACAMP8,PSG2,PSG5,PSG4,CEACAMP10,PSG3,PSG9
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004184
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Paternal
Unknown
Unknown
CEACAMP4,CD177,CD177P1,LYPD3,TEX101,PHLDB3,ZNF575,XRCC1,ETHE1
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005332
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
CD177,CD177P1,LYPD3,IRGQ,RN7SL368P,IRGC,TEX101,PHLDB3,ZNF575,XRCC1,PINLYP,ZNF576,SRRM5,ZNF428,CADM4,SMG9,LYPD5,ZNF283,ETHE1,PLAUR,KCNN4
kanduri_15_ASD_discovery_cases-case1591
Maternal
Unknown
Unknown
PSG4,PSG5,PSG9
kanduri_15_ASD_discovery_cases-case1592
Maternal
Unknown
Unknown
PSG4,PSG5,PSG9
kanduri_15_ASD_discovery_cases-case1831
Paternal
Unknown
Unknown
PSG5
kanduri_15_ASD_discovery_cases-case3062
Paternal
Unknown
Unknown
PSG4,PSG5,PSG9
krumm_13_ASD_discovery_cases-case13509.p1
Maternal
Simplex
Not segregated
TEX101
krumm_15_ASD_discovery_cases-case11141.p1
Illumina 1M
Maternal
Simplex
Segregated
TEX101
krumm_15_ASD_discovery_cases-case11161.p1
Illumina 1MDuo
Maternal
Simplex
Segregated
NDUFA3P1,ZNF227,ZNF233,ZNF235
krumm_15_ASD_discovery_cases-case11526.p1
Illumina 1M
Maternal
Simplex
Segregated
PHLDB3
krumm_15_ASD_discovery_cases-case12461.p1
1M-Duov3
Paternal
Simplex
Segregated
TEX101
krumm_15_ASD_discovery_cases-case13509.p1
1M-Duov3
Maternal
Simplex
Not segregated (CNV in unaffected sibling)
TEX101
krumm_15_ASD_discovery_cases-case13537.p1
1M-Duov3
Maternal
Simplex
Not segregated (CNV in unaffected sibling)
TEX101
krumm_15_ASD_discovery_cases-case14210.p1
Omni2.5-4v1
Maternal
Simplex
Segregated
TEX101
levy_11_ASD_discovery_cases-11161.p1
Maternal
Simplex
Segregated
NDUFA3P1,ZNF227,ZNF233,ZNF235
levy_11_ASD_discovery_cases-12366.p1
Paternal
Simplex
Not segregated
CEACAMP6,PSG8-AS1,CEACAMP7,CEACAMP9,CEACAMP11,PSG8,PSG10P,PSG1,PSG6,PSG7,PSG11,CEACAMP8,PSG2,PSG5,PSG4,CEACAMP10,PSG3,PSG9
lionel_13_ASD/SCZ/EP_discovery_cases-proband1
Unknown
Simplex
Unknown
PSG4,CEACAMP10,PSG9
nguyen_13_DD/ID/MCA/ASD_discovery_cases-patient235
Unknown
Unknown
Unknown
Minimum CNV gene content: SMG9
nguyen_13_DD/ID/MCA/ASD_discovery_cases-patient236
Unknown
Unknown
Unknown
Minimum CNV gene content: SMG9
nguyen_13_DD/ID/MCA/ASD_discovery_cases-patient237
Unknown
Unknown
Unknown
Minimum CNV gene content: SMG9
nguyen_13_DD/ID/MCA/ASD_discovery_cases-patient238
Unknown
Unknown
Unknown
Minimum CNV gene content: SMG9
nguyen_13_DD/ID/MCA/ASD_discovery_cases-patient239
Unknown
Unknown
Unknown
Minimum CNV gene content: SMG9
nguyen_13_DD/ID/MCA/ASD_discovery_cases-patient240
Unknown
Unknown
Unknown
Minimum CNV gene content: SMG9
o'roak_12_ASD_discovery_cases-case11141.p1
aCGH, Sanger sequencing
Maternal
Simplex (quad)
Unknown
TEX101
pinto_10_ASD_discovery_cases-case1240_3
Illumina550;Affy5.0
maternal
NA
NA
TEX101
poultney_13_ASD_discovery_cases-case01HI2115A
Unknown
Unknown (likely multiplex/AGRE)
Unknown
CD177
poultney_13_ASD_discovery_cases-case04HI2957A
Unknown
Unknown (likely multiplex/AGRE)
Unknown
ZNF222,RNU6-902P,ZNF283,ZNF404,ZNF45,ZNF221,ZNF155,ZNF230,ZNF223,ZNF284,ZNF224,ZNF225,ZNF234
poultney_13_ASD_discovery_cases-case04HI3174A
Unknown
Unknown (likely multiplex/AGRE)
Unknown
ZNF222,RNU6-902P,NDUFA3P1,ZNF283,ZNF404,ZNF45,ZNF221,ZNF155,ZNF230,ZNF223,ZNF284,ZNF224,ZNF225,ZNF234,ZNF227,ZNF233,ZNF112,ZNF226,ZNF235
poultney_13_ASD_discovery_cases-case99HI0922A
Unknown
Unknown (likely multiplex/AGRE)
Unknown
ZNF222,RNU6-902P,NDUFA3P1,ZNF283,ZNF404,ZNF45,ZNF221,ZNF155,ZNF230,ZNF223,ZNF284,ZNF224,ZNF225,ZNF234,ZNF227,ZNF233,ZNF112,ZNF226,ZNF235
poultney_13_ASD_discovery_cases-case99HI0933A
Unknown
Unknown (likely multiplex/AGRE)
Unknown
ZNF222,RNU6-902P,ZNF283,ZNF404,ZNF45,ZNF221,ZNF155,ZNF230,ZNF223,ZNF284,ZNF224,ZNF225,ZNF234,ZNF227,ZNF233,ZNF226,ZNF235
prasad_12_ASD_discovery_cases-case103953
Unknown
Unknown
Unknown
ZNF283
prasad_12_ASD_discovery_cases-case58016
Unknown
Unknown
Unknown
TEX101
quintela_17_DD/ID_discovery_cases-caseID_54
Unknown
Unknown
ZNF404,ZNF45,ZNF221,ZNF155,ZNF230
sajan_13_ACC/CBLH/PMG_discovery_cases-caseLR04-088
Not tested by qPCR
Unknown
Unknown
Unknown
CEACAMP11,CEACAMP4,PSG5,PSG4,CEACAMP10,PSG9
sanders_11_ASD_discovery_cases-11141.p1
Maternal
Simplex (quad-proband matched)
Segregated
TEX101
sanders_11_ASD_discovery_cases-11161.p1
Maternal
Simplex (quad-proband matched)
Segregated
ZNF227,ZNF233,ZNF235
sanders_11_ASD_discovery_cases-11526.p1
Maternal
Simplex (quad-proband matched)
Not segregated
PHLDB3
sanders_11_ASD_discovery_cases-12347.p1
Unknown
Simplex (quad-proband matched)
Not segregated
RN7SL368P,PLAUR
sanders_11_ASD_discovery_cases-12362.p1
Unknown
Simplex (trio)
NA
RN7SL368P,PLAUR
sanders_11_ASD_discovery_cases-12444.p1
Both parents
Simplex (quad-proband matched)
Segregated
RN7SL368P,PLAUR
sanders_11_ASD_discovery_cases-12998.p1
Unknown
Simplex (trio)
NA
RN7SL368P,PLAUR
sanders_11_ASD_discovery_cases-13039.p1
Unknown
Simplex (quad-proband matched)
Not segregated
RN7SL368P,PLAUR
sanders_11_ASD_discovery_cases-13196.p1
Unknown
Simplex (quad-proband matched)
Not segregated
RN7SL368P,PLAUR
Controls
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
engchuan_15_ASD_discovery_controls-control110036018513_
Unknown
CEACAMP11,CEACAMP4,PSG5,PSG4,CEACAMP10,PSG9
engchuan_15_ASD_discovery_controls-control110036022341_
Unknown
CEACAMP4
engchuan_15_ASD_discovery_controls-control110036023786_
Unknown
CEACAMP11,CEACAMP4,PSG5,PSG4,CEACAMP10,PSG9
engchuan_15_ASD_discovery_controls-controlB263027_1007875546
Unknown
CEACAMP11,CEACAMP4,PSG5,PSG4,CEACAMP10,PSG9
engchuan_15_ASD_discovery_controls-controlB391087_1007840223
Unknown
CEACAMP11,CEACAMP4,PSG5,PSG4,CEACAMP10,PSG9
engchuan_15_ASD_discovery_controls-controlB438744_1007854063
Unknown
CEACAMP11,CEACAMP4,PSG5,PSG4,CEACAMP10,PSG9
engchuan_15_ASD_discovery_controls-controlB877576_1007874042
Unknown
CEACAMP11,CEACAMP4,PSG5,PSG4,CEACAMP10,PSG9
engchuan_15_ASD_discovery_controls-controlHABC_900061_900061
Unknown
TEX101
engchuan_15_ASD_discovery_controls-controlHABC_900285_900285
Unknown
TEX101
engchuan_15_ASD_discovery_controls-controlHABC_900313_900313
Unknown
TEX101
engchuan_15_ASD_discovery_controls-controlHABC_900408_900408
Unknown
CEACAMP11,CEACAMP4,PSG5,PSG4,CEACAMP10,PSG9
engchuan_15_ASD_discovery_controls-controlHABC_900481_900481
Unknown
CEACAMP11,CEACAMP4,PSG5,PSG4,CEACAMP10,PSG9
engchuan_15_ASD_discovery_controls-controlHABC_900651_900651
Unknown
CEACAMP11,CEACAMP4,PSG5,PSG4,CEACAMP10,PSG9
engchuan_15_ASD_discovery_controls-controlHABC_900888_900888
Unknown
CEACAMP4,CD177
engchuan_15_ASD_discovery_controls-controlHABC_900888_900888
Unknown
TEX101
engchuan_15_ASD_discovery_controls-controlHABC_901081_901081
Unknown
CEACAMP11,CEACAMP4,PSG5,PSG4,CEACAMP10,PSG9
engchuan_15_ASD_discovery_controls-controlHABC_901094_901094
Unknown
CEACAMP11,CEACAMP4,CD177,PSG5,PSG4,CEACAMP10,PSG9
engchuan_15_ASD_discovery_controls-controlHABC_901260_901260
Unknown
CEACAMP11,CEACAMP4,PSG5,PSG4,CEACAMP10,PSG9
engchuan_15_ASD_discovery_controls-controlHABC_902757_902757
Unknown
ZNF227,ZNF233,ZNF226,ZNF235
girirajan_13b_ASD_discovery_controls-12110113024
Unknown
RPS10P28,CEACAMP6,PSG8-AS1,CEACAMP7,CEACAMP1,CEACAMP5,PSG8,PSG10P,PSG1,PSG6,PSG7,PSG11,CEACAMP8,PSG2,LIPE-AS1,PSG3
girirajan_13b_ASD_discovery_controls-20209111301
Unknown
CEACAMP6,PSG8-AS1,CEACAMP7,CEACAMP9,PSG8,PSG10P,PSG1,PSG6,PSG7,PSG11,CEACAMP8,PSG2,PSG5,PSG4,CEACAMP10,PSG3,PSG9
girirajan_13b_ASD_discovery_controls-24907108358
Unknown
CEACAMP6,PSG8-AS1,CEACAMP7,CEACAMP9,CEACAMP11,CEACAMP4,PSG8,PSG10P,PSG1,PSG6,PSG7,PSG11,CEACAMP8,PSG2,PSG5,PSG4,CEACAMP10,PSG3,PSG9
girirajan_13b_ASD_discovery_controls-27309111520
Unknown
CEACAMP6,PSG8-AS1,CEACAMP7,CEACAMP9,PSG8,PSG10P,PSG1,PSG6,PSG7,PSG11,CEACAMP8,PSG2,PSG5,PSG4,CEACAMP10,PSG3,PSG9
girirajan_13b_ASD_discovery_controls-30705103901
Unknown
CEACAMP6,PSG8-AS1,CEACAMP7,CEACAMP9,PSG8,PSG10P,PSG1,PSG6,PSG7,PSG11,CEACAMP8,PSG2,PSG5,PSG4,PSG3
girirajan_13b_ASD_discovery_controls-3208108937
Unknown
PSG8-AS1,CEACAMP7,CEACAMP9,CEACAMP11,CEACAMP4,PSG8,PSG10P,PSG1,PSG6,PSG7,PSG11,CEACAMP8,PSG2,PSG5,PSG4,CEACAMP10,PSG9
girirajan_13b_ASD_discovery_controls-33006106538
Unknown
CEACAMP6,PSG8-AS1,CEACAMP7,CEACAMP9,PSG8,PSG10P,PSG1,PSG6,PSG7,PSG11,CEACAMP8,PSG2,PSG5,PSG4,CEACAMP10,PSG9
girirajan_13b_ASD_discovery_controls-40706106823
Unknown
CEACAMP6,PSG8-AS1,CEACAMP7,CEACAMP9,PSG8,PSG10P,PSG1,PSG6,PSG7,PSG11,CEACAMP8,PSG2,PSG5,PSG4,CEACAMP10,PSG3,PSG9
girirajan_13b_ASD_discovery_controls-45706106971
Unknown
CEACAMP6,PSG8-AS1,CEACAMP7,CEACAMP9,PSG8,PSG10P,PSG1,PSG6,PSG7,PSG11,CEACAMP8,PSG2,PSG5,PSG4,CEACAMP10,PSG3,PSG9
girirajan_13b_ASD_discovery_controls-46506107005
Unknown
RPS10P28,CEACAMP6,PSG8-AS1,CEACAMP7,CEACAMP5,PSG8,PSG10P,PSG1,PSG6,PSG7,PSG11,CEACAMP8,PSG2,PSG3
girirajan_13b_ASD_discovery_controls-9905103520
Unknown
RPS10P28,CEACAMP6,PSG8-AS1,CEACAMP7,CEACAMP9,CEACAMP5,PSG8,PSG10P,PSG1,PSG6,PSG7,PSG11,CEACAMP8,PSG2,PSG5,PSG4,CEACAMP10,PSG3,PSG9
kanduri_15_ASD_discovery_controls-control_split286
Unknown
PSG5
krumm_13_ASD_discovery_controls-control12394.s1
Paternal
Simplex
TEX101
krumm_13_ASD_discovery_controls-control13509.s1
Maternal
Simplex
TEX101
krumm_15_ASD_discovery_controls-control11208.s1
Illumina 1M
Maternal
TEX101
krumm_15_ASD_discovery_controls-control13319.s1
1M-Duov3
Maternal
TEX101
krumm_15_ASD_discovery_controls-control13509.s1
1M-Duov3
Maternal
TEX101
krumm_15_ASD_discovery_controls-control13537.s1
1M-Duov3
Maternal
TEX101
levy_11_ASD_discovery_controls-11208.s1
Maternal
Simplex
NA
TEX101
levy_11_ASD_discovery_controls-12366.s1
Paternal
Simplex
NA
CEACAMP6,PSG8-AS1,CEACAMP7,CEACAMP9,CEACAMP11,PSG8,PSG10P,PSG1,PSG6,PSG7,PSG11,CEACAMP8,PSG2,PSG5,PSG4,CEACAMP10,PSG3,PSG9
sanders_11_ASD_discovery_controls-11208.s1
Maternal
Simplex (quad)
NA
TEX101
sanders_11_ASD_discovery_controls-12073.s1
Unknown
Simplex (quad)
NA
PLAUR
sanders_11_ASD_discovery_controls-12106.s1
Unknown
Simplex (quad)
NA
RN7SL368P,PLAUR
sanders_11_ASD_discovery_controls-12150.s1
Unknown
Simplex (quad)
NA
RN7SL368P,PLAUR
sanders_11_ASD_discovery_controls-12229.s1
Unknown
Simplex (quad)
NA
RN7SL368P,PLAUR
sanders_11_ASD_discovery_controls-12334.s1
Paternal
Simplex (quad)
NA
CEACAMP1,LIPE-AS1
sanders_11_ASD_discovery_controls-12343.s1
Unknown
Simplex (quad)
NA
RN7SL368P,PLAUR
sanders_11_ASD_discovery_controls-12832.s1
Maternal
Simplex (quad)
NA
XRCC1
No Animal Model Data Available