10q23.1CNV Type: Deletion-Duplication
Largest CNV size: 146429 bp
Statistics Box:
Number of Reports: 25
Number of Reports: 25
Summary Information
Summary statement in development
Additional Locus Information
References
Major Reports
Title
Author, Year
Report Class
CNV Type
An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabili...
Deletion-Duplication
Evaluation of copy number variations reveals novel candidate genes in autism spectrum disorder-associated pathways.
Deletion
Refinement and discovery of new hotspots of copy-number variation associated with autism spectrum disorder.
Deletion-Duplication
Convergence of genes and cellular pathways dysregulated in autism spectrum disorders.
Deletion
Performance of chromosomal microarray for patients with intellectual disabilities/developmental delay, autism, and multiple congenital anomalies in...
Deletion
Minor Reports
Title
Author, Year
Report Class
CNV Type
Recurrent 10q22-q23 deletions: a genomic disorder on 10q associated with cognitive and behavioral abnormalities.
Deletion
Rare structural variation of synapse and neurotransmission genes in autism.
Deletion
Reduced transcript expression of genes affected by inherited and de novo CNVs 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 deletions at the neurexin 3 locus in autism spectrum disorder.
Deletion
A discovery resource of rare copy number variations in individuals with autism spectrum disorder.
Deletion-Duplication
Contribution of copy number variants involving nonsense-mediated mRNA decay pathway genes to neuro-developmental disorders.
Deletion
Global increases in both common and rare copy number load associated with autism.
Duplication
Diagnostic yield of array comparative genomic hybridization in adults with autism spectrum disorders.
Deletion
Identification of small exonic CNV from whole-exome sequence data and application to autism spectrum disorder.
Duplication
Copy number variation in Han Chinese individuals with autism spectrum disorder.
Deletion
Performance of case-control rare copy number variation annotation in classification of autism.
Deletion-Duplication
Copy-number variations are enriched for neurodevelopmental genes in children with developmental coordination disorder.
Deletion
Rare Inherited and De Novo CNVs Reveal Complex Contributions to ASD Risk in Multiplex Families.
Duplication
Chromosomal microarray in clinical diagnosis: a study of 337 patients with congenital anomalies and developmental delays or intellectual disability.
Deletion
Chromosomal microarray analysis in a cohort of underrepresented population identifies SERINC2 as a novel candidate gene for autism spectrum disorder.
Deletion
Genetic testing including targeted gene panel in a diverse clinical population of children with autism spectrum disorder: Findings and implications.
Duplication
Cases
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
balciuniene_07_ASD_discovery_cases
Three unrelated patients with behavioral and/or neurodevelopmental abnormalities who presented to clinics at the University of Minnesota (n=1) and Johns Hopkins Hospital (n=2).
3
Autism (n=1; diagnosis based on ADOS); developmental delay (n=1); learning disability (n=1)
Range, 18 mos.-11 yrs.
100% Male
96000
1
0
1
chaves_19_ASD/DD/ID_discovery_cases
Patients from the south of Brazil with neurodevelopmental disorders
420
Developmental delay/intellectual disability present in 80% of cases, ASD in 32%
Range, 0-49 years (mean 9.5 9.73 years)
61.90% Male
399403
2
0
2
chong_14_DD/ID/ASD/MCA_discovery_cases
Patients referred to clinical genetics service and recruited for CMA application study
105
Developmental delay/intellectual disability (DD/ID), autism (ASD), and/or multiple congenital anomalies (MCA)
N/A
N/A
130000
1
0
1
digregorio_17_DD/ID_discovery_cases
Consecutive cases examined in the Medical Genetics Unit at the "Citta della Salte e della Scienza" University Hospital (Turin, Italy) from 2008 to 2014 (cases with CNVs are present in DECIPHER database)
1015
Cases diagnosed with idiopathic developmental delay and/or intellectual disability (DD/ID)
N/A
N/A
99000
0
1
1
engchuan_15_ASD_discovery_cases
Samples from the Autism Genome Project (AGP)
1892
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
N/A
85.78% Male
292152
2
2
4
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
33472
2
0
2
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
21575
1
0
1
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
86469
1
8
9
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
323845
0
1
1
griswold_12_ASD_discovery_cases
Unrelated ASD cases from the Collaborative Autism Project (CAP) ascertained through clinical groups at the University of Miami (HIHG), the University of South Carolina, and Vanderbilt University. 260 cases from multiplex families, 483 from simplex families, 62 from families with siblings having autistic-like traits without a confirmed ASD diagnosis, and 8 from families with monozygotic twins.
813
Daignosis of ASD/autism. Inclusion criteria: (1) age between 3-21 years, (2) presumptive clinical diagnosis of autism, (3) expert clinical determination of autism diagnosis using DSM-IV criteria supported by ADI-R in the majority of cases and all available clinical information, (4) minimal developmental level of 18 months as determined by VABS or VABS-II or IQ equivalent >35. Exclusion criteria: severe sensory problems, significant motor impairments, or previously identified metabolic, genetic, or progressive neurological disorder.
Range, 3-21 yrs.
NA
84276
1
0
1
hnoonual_17_ASD_discovery_cases
Cohort of 114 Thai ASD probands (68 retrospective ASD cases with the use of chromosomal microarray/CMA as a second line test; 46 prospective ASD and developmental delay cases with the use of CMA as the first-tier test)
114
68 cases with non-syndromic ASD (61 of which also presented with intellectual disability) were diagnosed with ASD based on meeting DSM-IV criteria for ASD, whereas an additional 46 prospective ASD and DD cases were given a clinical diagnosis of ASD based on DSM-5 criteria.
Range, 1-18 years (at time of recruitment)
79.82% Male
97000
1
0
1
kalsner_17_ASD_discovery_cases
Consecutive children with ASD evaluated in the Connecticut Children's Medical Center (CCMC) Autism Neurogenetics Program
100
All children enrolled in this study (i) had a confirmed diagnosis of ASD by a developmental-behavioral pediatrician or child neurologist experienced in ASD, (ii) scored in the full autism range on ADOS-2 and (iii) either met DSM-5 criteria for ASD or scored in the autism range on CARS-2
Range, 21 mos.-17 yrs.
76.0% Male
1800000
0
1
1
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
1788703
1
2
3
krumm_15_ASD_discovery_cases
Probands from the Simons Simplex Collection
2377
Diagnosis of ASD
N/A
N/A
16446
0
4
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
1600000
0
1
1
mosca_16_DCD_discovery_cases
Participants recruited as part of a multidisciplinary study at the Alberta Children's Hospital (Calgary, Alberta, Canada)
82
All cases met diagnostic criteria for developmental coordination disorder (DCD) with or without co-occurring ADHD and/or reading disorder.
Range, 8-17 years (Mean, 10.06 2.92 yrs.)
N/A
65639
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
1683773
1
0
1
nord_11_ASD_discovery_cases
Youth with ASD (as part of mother-father-child trios)
41
ASD
85.4% Male
19177
2
0
2
pinto_14_ASD_discovery_cases
ASD probands from simplex and multiplex families collected as part of stage 2 of the Autism Genome Project (AGP) after quality control (1,604 before QC)
1359
Cases classified according to ADOS and ADI-R
N/A
N/A
84277
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)
16450
0
3
3
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
23307
2
1
3
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
146429
50
5
55
sansovic_17_DD/ID/ASD_discovery_cases
Unrelated patients from Croatia referred to the Department of Medical Genetics and Reproductive Health, Children's Hospital Zagreb, University of Zagreb School of Medicine
337
Cases diagnosed by clinical geneticists or pediatricians to have developmental delay/intellectual disability (DD/ID), ASD, congenital anomalies, or a combination of those features
Mean, 7 years (range, 1 month-25 years)
N/A
14000
1
0
1
stobbe_13_ASD_discovery_cases
Adult ASD cases referred for genetic evaluation of autism from July 2009 through April 2012
36
Diagnosis of ASD confirmed in 34 of 36 patients; diagnosis of ASD based on DSM-IV criteria and confirmed by chart review by neurologist specializing in autism.
Range, 18-45 yrs. (mean 25.3 yrs.)
77.78% Male
45000
1
0
1
vaags_11_ASD_discovery_cases
Discovery cohort of Canadian individuals with ASD
1158
ASD
NA
NA
12179
1
0
1
Controls
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
brandler_18_ASD_discovery_controls
Unaffected individuals from the Relating Genes with Adolescent and Child Health (REACH) cohort (112 individuals from 311 families) and the Simons Simplex 1 (SSC1) cohort (518 controls from simplex quad families)
630
Control
N/A
N/A
36112
1
0
1
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
531241
4
2
6
girirajan_13a_ASD_discovery_controls1
NIMH control cohort consisting of 207 DNA samples obtained from Rutgers Univ. Cell and DNA Repository, and 373 individuals from ClinSeq study of artherosclerotic disease
580
Control. Individuals from NIMH control cohort negative for DSM-IV criteria for major depression and history of bipolar disorder or psychosis.
NA
NA
0
0
0
0
girirajan_13a_ASD_discovery_controls2
Controls characterized through the Wellcome Trust Case-Control Consortium (WTCCC) for smaller hotspot regions and candidate-gene events
2090
Control
NA
NA
N/A
N/A
N/A
N/A
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
0
0
0
0
griswold_12_ASD_discovery_controls
Children recruited as pediatric controls from HIHG (Miami, FL) and preterm birth study at Centennial Medical Center (Nashville, TN)
592
Control
Range, preterm-21 yrs.
NA
84276
0
0
0
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
4061
3
0
3
krumm_15_ASD_discovery_controls
Unaffected siblings from quad families from the Simons Simplex Collection
1786
Control
N/A
N/A
0
0
0
0
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
N/A
N/A
N/A
nord_11_ASD_discovery_controls
Samples from 367 total control individuals (319 European American, 48 African American) used to test for differences in rare CNV prevalence compared with autism cases
123
Controls (no history of psychiatric symptoms by self-report)
30 yrs.
958776
0
1
1
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)
23307
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.
146429
45
2
47
Cases
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
balciuniene_07_ASD_discovery_cases
1 African-American, 2 NA
aCGH
None
chaves_19_ASD/DD/ID_discovery_cases
Brazil
Array SNP
Affymetrix CytoScan 750K, Affymetrix CytoScan HD
Affymetrix ChAS
None
chong_14_DD/ID/ASD/MCA_discovery_cases
Chinese
aCGH
High-resolution 180K oligoarray
aCGH (NimbleGen)
digregorio_17_DD/ID_discovery_cases
Italian
aCGH
Agilent 60K (SurePrint G3 Human CGH Microarray 8x60K)
ADM-2
Agilent CGH Analytics software ver. 4.0.81
None
engchuan_15_ASD_discovery_cases
Caucasian
Solid phase hybridization
Illumina 1M
None
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
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
aCGH (NimbleGen 135K array)
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
griswold_12_ASD_discovery_cases
Range of self-reported ethnicities (specifics NA)
Solid phase hybridization
Illumina Human 1M-v1_C BeadChip, Illumina 1M-DuoV3 BeadChip
Penn CNV, QuantiSNP
BeadStudio
qPCR
hnoonual_17_ASD_discovery_cases
Thai
Solid phase hybridization
Illumina Infinium CytoSNP-850K v1.1 BeadChip
BlueFuse Multi v4.3, GenomeStudio Data Analysis v.2011.1
None
kalsner_17_ASD_discovery_cases
52 Caucasian (not Latino), 14.5 Hispanic/Latino, 7 African-American, 5 Asian, 21 more than one race/ethnicity
CMA
Platform not reported
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
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
mosca_16_DCD_discovery_cases
Canada
Solid phase hybridization
Illumina HumanOmni2.5-Quad BeadChip
iPattern, PennCNV, QuantiSNP, CNVPartition
None
nguyen_13_DD/ID/MCA/ASD_discovery_cases
N/A
aCGH
SignatureChip BACs aCGH, SignatureChip Oligo whole-genome microarray
N/A
nord_11_ASD_discovery_cases
29 European American, 3 Asian American, 2 Hispanic, 2 African American, 5 unknown ancestry
aCGH
NimbleGen HD2
Sliding-window algorithm, ~10 kb minumum size threshold
None
pinto_14_ASD_discovery_cases
Predominantly European
Solid phase hybridization
Illumina 1M (v.1 and v.3)
qPCR, MLPA, long-range PCR
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
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
sansovic_17_DD/ID/ASD_discovery_cases
Croatia
aCGH
Agilent SurePrint G3 Unrestricted CGH ISCA v2
Agilent Feature Extraction (v12.0), Agilent CytoGenomics (v3.0 and v4.0)
None
stobbe_13_ASD_discovery_cases
N/A
aCGH
NimbleGen CGX-3v1.0
ADM-1
NimbleScan 2.5, DNA Analytics 4.0
None
vaags_11_ASD_discovery_cases
Canadian
aCGH, array SNP, solid phase hybridization
Affymetrix 6.0, Illumina Infinium 1M, Illumina Omni 2.5M, Agilent 1M
None
Controls
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
brandler_18_ASD_discovery_controls
N/A
WGS
Illumina HiSeq X10 or HiSeq 2500
ForestSV, Lumpy, Manta, Mobster, SV2
PCR, array SNP
engchuan_15_ASD_discovery_controls
Caucasian
Solid phase hybridization
Illumina 1M
None
girirajan_13a_ASD_discovery_controls1
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_13a_ASD_discovery_controls2
NA
Solid phase hybridization
Illumina 1.2M SNP microarray
None
girirajan_13b_ASD_discovery_controls
116 European, 70 Hispanic, 27 Mixed Race, 7 Asian, 3 African-American
aCGH
Roche NimbleGen custom targeted hotspot array comprised of 135,000 probes with higher density probe coverage in genomic hotspots (regions flanked by segmental duplications)
DNA Copy Number v1.6
griswold_12_ASD_discovery_controls
Caucasian
Solid phase hybridization
Illumina Human 1M-v1_C BeadChip, Illumina 1M-DuoV3 BeadChip
Penn CNV, QuantiSNP
BeadStudio
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_15_ASD_discovery_controls
N/A
WES
CoNIFER, XHMM
None
nguyen_13_DD/ID/MCA/ASD_discovery_controls
N/A
N/A
N/A
N/A
nord_11_ASD_discovery_controls
aCGH
NimbleGen HD2
Sliding-window algorithm, ~10 kb minumum size threshold
None
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
balciuniene_07_ASD_discovery_cases-case3
11 yrs.
M
Learning disability
Presented to Genetic Clinics, Johns Hopkins Hospital, at 18 months for evaluation of presumptive Bannayan-Riley-Ruvalcaba syndrome (BRRS), with a history of macrosomia at birth, persistent macrocephaly due to megencephaly, subcutaneous lipomas, gastrointestinal polyps, and developmental delay. Underwent colectomy at 3 years of age.
Mild learning disabilities, but attending regular classes
82575044
82671226
96000
Unknown
Deletion
No
chaves_19_ASD/DD/ID_discovery_cases-case248
N/A
M
Developmental delay
Abnormal brain structure, developmental delay, speech and/or language delay or impairment, facial dysmorphism and microcephaly
85632525
86031927
399403
GRCh38
Deletion
No
chaves_19_ASD/DD/ID_discovery_cases-case255
N/A
M
Developmental delay
Developmental delay
85931710
86083870
152161
GRCh38
Deletion
No
chong_14_DD/ID/ASD/MCA_discovery_cases-caseaCGH3832
N/A
F
Developmental delay
Mild to moderate developmental delay, mild ataxia
Mild to moderate developmental delay
82080307
82213188
132882
GRCh38
Deletion
Yes
digregorio_17_DD/ID_discovery_cases-DECIPHER_296557
N/A
F
Developmental delay/intellectual disability
80412353
80511100
98748
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case14153_2520
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
80620909
80913061
292153
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case14383_1300
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
80620909
80912912
292004
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case4446_1
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
86005021
86089297
84277
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case8663_201
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
82265827
82331275
65449
GRCh38
Deletion
No
gai_11_ASD_replication_cases-AU001203
Autism
83958683
83992154
33472
Unknown
Deletion
No
gai_11_ASD_replication_cases-AU001204
Autism
83958683
83992154
33472
Unknown
Deletion
No
gazzellone_14_ASD_discovery_cases-case485-3
N/A
M
ASD
ASD; no other clinical information provided
N/A
85578646
85600221
21576
GRCh38
Deletion
No
girirajan_13a_ASD_discovery_cases-11545.p1
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
80334950
80356863
21914
GRCh38
Duplication
Yes
girirajan_13a_ASD_discovery_cases-12378.p1
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
80334950
80356863
21914
GRCh38
Duplication
Yes
girirajan_13a_ASD_discovery_cases-13611.p1
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
80334950
80356863
21914
GRCh38
Duplication
Yes
girirajan_13a_ASD_discovery_cases-13634.p1
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
80334950
80356863
21914
GRCh38
Duplication
Yes
girirajan_13a_ASD_discovery_cases-13889.p1
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
82844100
82930569
86470
GRCh38
Duplication
Yes
girirajan_13a_ASD_discovery_cases-14055.p1
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
80334950
80356863
21914
GRCh38
Duplication
Yes
girirajan_13a_ASD_discovery_cases-14343.p1
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
80334950
80356863
21914
GRCh38
Duplication
Yes
girirajan_13a_ASD_discovery_cases-14348.p1
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
80610197
80616467
6271
GRCh38
Deletion
Yes
girirajan_13a_ASD_discovery_cases-AU1763301
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
80334950
80356863
21914
GRCh38
Duplication
Yes
girirajan_13b_ASD_discovery_cases-44106106924
N/A
N/A
Autism
Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Caucasian
N/A
85398279
85722123
323845
GRCh38
Duplication
No
griswold_12_ASD_discovery_cases-case37276
NA
NA
ASD/autism
NA
NA
86005021
86089297
84277
GRCh38
Deletion
Yes
hnoonual_17_ASD_discovery_cases-casePS37-3
N/A
M
ASD
Seizures
82257852
82355261
97410
GRCh38
Deletion
No
kalsner_17_ASD_discovery_cases-case8
N/A
N/A
ASD
Case (i) had a confirmed diagnosis of ASD by a developmental behavioral pediatrician or child neurologist experienced in ASD, (ii) scored in the full autism range on ADOS-2 and (iii) either met DSM-5 criteria for ASD or scored in the autism range on CARS-2
83524214
85350860
1826647
GRCh38
Duplication
No
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001665
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
82081625
83870328
1788704
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002246
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
82794503
84537954
1743452
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002272
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
82322554
82359096
36543
GRCh38
Deletion
Yes
krumm_15_ASD_discovery_cases-case11545.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Trio
80336155
80352601
16447
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_cases-case12378.p1
N/A
Female
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Trio
80336155
80352601
16447
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_cases-case13634.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
80336155
80352601
16447
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_cases-case14343.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
80336155
80352601
16447
GRCh38
Duplication
Yes
leppa_16_ASD_discovery_cases-AU3057301
N/A
F
ASD
83346244
84899244
1553001
GRCh38
Duplication
No
mosca_16_DCD_discovery_cases-case113903
N/A
M
DCD (with or without ADHD and/or RD)
Ancestry: unknown. Family history: maternal diagnosis unknown; paternal diagnosis unknown.
80666929
80732567
65639
GRCh38
Deletion
No
nguyen_13_DD/ID/MCA/ASD_discovery_cases-251690
N/A
F
Developmental delay/intellectual disability
Database: DECIPHER. Indication for study: intellectual disability/developmental delay
Developmental delay/intellectual disability
80711826
82395599
1683774
GRCh38
Deletion
N/A
nord_11_ASD_discovery_cases-239-1
ASD
87428567
87438790
10224
Unknown
Deletion
No
nord_11_ASD_discovery_cases-239-1
ASD
84003515
84022691
19177
Unknown
Deletion
No
pinto_14_ASD_discovery_cases2-case4446_1
N/A
M
ASD
Clinical profile: N/A.
Cognitive profile: N/A.
86005021
86089297
84277
GRCh38
Deletion
Yes
poultney_13_ASD_discovery_cases-case05HI2544A
N/A
M
ASD
ASD case from AGRE (AGRE ID AU0911302; NDAR ID NDAR_INVBZ963FL8)
80338465
80352603
14139
GRCh38
Duplication
No
poultney_13_ASD_discovery_cases-case05HI4548A
N/A
M
ASD
ASD case from AGRE (AGRE ID AU1549303; NDAR ID NDAR_INVVJ971KMF)
80336154
80352603
16450
GRCh38
Duplication
No
poultney_13_ASD_discovery_cases-case98HI0245A
N/A
F
ASD
ASD case from AGRE (AGRE ID AU009205; NDAR ID NDAR_INVCY103EWN)
80336154
80352603
16450
GRCh38
Duplication
No
prasad_12_ASD_discovery_cases-case139157
NA
F
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
87190259
87208882
18624
Unknown
Deletion
No
prasad_12_ASD_discovery_cases-case55310
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
83770261
83793567
23307
Unknown
Deletion
No
prasad_12_ASD_discovery_cases-case60635
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
82084686
82105154
20469
Unknown
Duplication
No
sanders_11_ASD_discovery_cases-11073.p1
9.7
M
Autism
NA
Full-scale IQ, 100; non-verbal IQ, 100; verbal IQ, 101
82953362
82956767
3406
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11114.p1
8.8
F
Autism
NA
Full-scale IQ, 40; non-verbal IQ, 45; verbal IQ, 30
81119963
81128126
8164
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11133.p1
17
M
Autism
NA
Full-scale IQ, 128; non-verbal IQ, 110; verbal IQ 140
83768092
83779789
11698
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11144.p1
10.9
M
Autism
NA
Full-scale IQ, 111; non-verbal IQ, 127; verbal IQ, 99
82504001
82505413
1413
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11165.p1
5.2
M
Autism
NA
Full-scale IQ, 104; non-verbal IQ, 112; verbal IQ 89
81118160
81133375
15216
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11205.p1
7.9
M
Autism
NA
Full-scale IQ, 63; non-verbal IQ, 70; verbal IQ, 61
81177862
81185794
7933
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11218.p1
10.5
M
Autism
NA
Full-scale IQ, 109; non-verbal IQ, 119; verbal IQ, 98
81119963
81128126
8164
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11232.p1
8.7
M
ASD
NA
Full-scale IQ, 74; non-verbal IQ, 68; verbal IQ 91
81119963
81128126
8164
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11294.p1
6.2
M
Autism
NA
Full-scale IQ, 80; non-verbal IQ, 79; verbal IQ 87
81119963
81128126
8164
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11429.p1
11.3
M
Autism
NA
Full-scale IQ, 99; non-verbal IQ, 97; verbal IQ, 102
81797431
81807191
9761
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11458.p1
16.4
M
Autism
NA
Full-scale IQ, 117; non-verbal IQ, 106; verbal IQ, 126
81118732
81128126
9395
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11472.p1
13.7
F
Autism
NA
Full-scale IQ, 30; non-verbal IQ, 30; verbal IQ, 31
81177862
81185794
7933
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11504.p1
8.2
M
Autism
NA
Full-scale IQ, 112; non-verbal IQ, 108; verbal IQ, 119
81115973
81128126
12154
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11540.p1
8.2
M
Autism
NA
Full-scale IQ, 59; non-verbal IQ, 67; verbal IQ, 55
82953362
82956767
3406
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11545.p1
7.9
M
Autism
NA
Full-scale IQ, 103; non-verbal IQ, 114; verbal IQ, 83
80340672
80352732
12061
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11592.p1
10.1
M
Autism
NA
Full-scale IQ, 115; non-verbal IQ, 109; verbal IQ, 122
81125293
81128126
2834
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11630.p1
10.6
M
Autism
NA
Full-scale IQ, 104; non-verbal IQ, 105; verbal IQ, 106
81119963
81128126
8164
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11711.p1
5.3
M
Autism
NA
Full-scale IQ, 94; non-verbal IQ, 97; verbal IQ, 93
81119963
81128126
8164
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11712.p1
5.5
M
ASD
NA
Full-scale IQ, 79; non-verbal IQ, 94; verbal IQ, 60
81177862
81185794
7933
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11740.p1
11.7
M
Autism
NA
Full-scale IQ, 98; non-verbal IQ, 89; verbal IQ, 115
81119963
81128126
8164
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11768.p1
8.4
M
Autism
NA
Full-scale IQ, 85; non-verbal IQ, 84; verbal IQ, 89
81119963
81128126
8164
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11972.p1
8.5
F
Autism
NA
Full-scale IQ, 77; non-verbal IQ, 80; verbal IQ, 77
81119963
81128126
8164
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11982.p1
9.3
M
Autism
NA
Full-scale IQ, 79; non-verbal IQ, 78; verbal IQ, 86
81119963
81128126
8164
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12029.p1
8.6
M
Autism
NA
Full-scale IQ, 103; non-verbal IQ, 108; verbal IQ, 94
81118160
81128126
9967
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12030.p1
6.8
M
Autism
NA
Full-scale IQ, 107; non-verbal IQ, 109; verbal IQ, 101
81119963
81128126
8164
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
82650138
82670332
20195
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12096.p1
11.7
M
Autism
NA
Full-scale IQ, 119; non-verbal IQ, 119; verbal IQ, 114
81125293
81128126
2834
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12108.p1
13.9
M
Autism
NA
Full-scale IQ, 66; non-verbal IQ, 63; verbal IQ, 74
81119963
81128126
8164
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12162.p1
4.3
M
Autism
NA
Full-scale IQ, 67; non-verbal IQ, 68; verbal IQ, 75
80688425
80834854
146430
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12224.p1
4.3
M
Autism
NA
Full-scale IQ, 80; non-verbal IQ, 85; verbal IQ, 78
81115973
81128126
12154
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12227.p1
12.4
M
Autism
NA
Full-scale IQ, 137; non-verbal IQ, 146; verbal IQ, 106
81598168
81634964
36797
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12238.p1
8
M
Autism
NA
Full-scale IQ, 87; non-verbal IQ, 90; verbal IQ, 84
81150002
81160611
10610
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12287.p1
7.9
M
Autism
NA
Full-scale IQ, 43; non-verbal IQ, 55; verbal IQ, 28
85056582
85086388
29807
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12296.p1
15.3
M
Autism
NA
Full-scale IQ, 73; non-verbal IQ, 88; verbal IQ, 52
81119963
81126219
6257
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12306.p1
8.4
M
Autism
NA
Full-scale IQ, 66; non-verbal IQ, 57; verbal IQ, 84
81119963
81128126
8164
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12315.p1
5.8
M
ASD
NA
Full-scale IQ, 53; non-verbal IQ, 54; verbal IQ, 61
82650138
82670332
20195
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12337.p1
11.6
M
ASD
NA
Full-scale IQ, 121; non-verbal IQ, 112; verbal IQ, 131
80810297
80813434
3138
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12361.p1
4.8
M
ASD
NA
Full-scale IQ, 115; non-verbal IQ, 123; verbal IQ, 98
81119963
81128126
8164
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12378.p1
6.2
F
Autism
NA
Full-scale IQ, 82; non-verbal IQ, 84; verbal IQ, 81
80340672
80353117
12446
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12429.p1
4.8
M
Autism
NA
Full-scale IQ, 74; non-verbal IQ, 71; verbal IQ, 82
83761496
83794477
32982
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12493.p1
15.3
F
ASD
NA
Full-scale IQ, 88; non-verbal IQ, 92; verbal IQ, 86
81119963
81128126
8164
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12552.p1
8.7
M
Autism
NA
Full-scale IQ, 104; non-verbal IQ, 107; verbal IQ, 98
81125293
81128126
2834
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12579.p1
6.6
M
Autism
NA
Full-scale IQ, 33; non-verbal IQ, 52; verbal IQ, 18
81125293
81128126
2834
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12603.p1
11.7
M
Autism
NA
Full-scale IQ, 23; non-verbal IQ, 26; verbal IQ, 20
81119963
81128126
8164
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12607.p1
5.3
M
ASD
NA
Full-scale IQ, 105; non-verbal IQ, 104; verbal IQ, 104
81119963
81128126
8164
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12628.p1
11.2
M
Autism
NA
Full-scale IQ, 118; non-verbal IQ, 102; verbal IQ, 120
81119963
81128126
8164
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12656.p1
10.9
M
Autism
NA
Full-scale IQ, 40; non-verbal IQ, 46; verbal IQ, 29
81119963
81128126
8164
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12708.p1
10.3
M
Autism
NA
Full-scale IQ, 79; non-verbal IQ, 91; verbal IQ, 63
81119963
81128126
8164
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12764.p1
15.2
F
ASD
NA
Full-scale IQ, 94; non-verbal IQ, 99; verbal IQ, 86
81115973
81128126
12154
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12799.p1
4
M
Autism
NA
Full-scale IQ, 58; non-verbal IQ, 55; verbal IQ, 49
83768092
83794477
26386
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12969.p1
12.2
M
Autism
NA
Full-scale IQ, 73; non-verbal IQ, 78; verbal IQ, 70
81115973
81128126
12154
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-13057.p1
4.2
M
Autism
NA
Full-scale IQ, 108; non-verbal IQ, 118; verbal IQ, 87
81177862
81185794
7933
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-13070.p1
8.9
M
Autism
NA
Full-scale IQ, 86; non-verbal IQ, 96; verbal IQ, 85
81119963
81128126
8164
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-13096.p1
5.6
M
Autism
NA
Full-scale IQ, 107; non-verbal IQ, 111; verbal IQ, 99
81119963
81128126
8164
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-13322.p1
16.9
M
Autism
NA
Full-scale IQ, 59; non-verbal IQ, 62; verbal IQ, 56
81119963
81128126
8164
GRCh38
Deletion
No
sansovic_17_DD/ID/ASD_discovery_cases-case29
8 yrs.
F
Developmental delay/intellectual disability
Developmental delay/intellectual disability, Congenital anomalies, Dysmorphism
82510252
82523786
13535
GRCh38
Deletion
No
stobbe_13_ASD_discovery_cases-case6
26 yrs.
M
Autism and epilepsy
Family history: paternal grandmother with epilepsy. Karyotype: not performed. Fragile X testing: normal.
82380463
82425994
45532
GRCh38
Deletion
No
vaags_11_ASD_discovery_cases-probandF2-003
3 yrs. 5 mos.
M
Autism
Diagnosis of autism based on ADI-R and ADOS-1. Language: Oral and Written Language Scales/OWLS, incomplete; Peabody Picture Vocabulary Test/PPVT-4, SS = 67 (<1%). Adaptive Behavior (measured by VABS-II): adaptive behavior composite (ABC) = 61 (<1%), communication (COM) = 63 (1%), daily living skills (DLS) = 60 (<1%), socialization (SOC) = 59 (<1%), and motor skills (MOT) = 72 (3%). Born at 31 weeks, asthma, juvenile arthritis. Family history: proband was one of three trizygotic triplets; sister with autism & nonabsent seizures (has NRXN3 deletion).
Leiter-R IQ: incomplete (test attempted but proband failed to complete)
81119490
81131668
12179
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
brandler_18_ASD_discovery_controls-controlSSC08632
N/A
M
Control
Control from SSC cohort
80974588
81010700
36113
GRCh38
Deletion
Yes
engchuan_15_ASD_discovery_controls-controlB248665_1007854152
N/A
N/A
Control
No previous psychiatric history
82528792
82581943
53152
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlB524961_1007872292
N/A
N/A
Control
No previous psychiatric history
85179517
85274340
94824
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlHABC_900270_900270
N/A
N/A
Control
No previous psychiatric history
80302905
80348854
45950
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlHABC_900270_900270
N/A
N/A
Control
No previous psychiatric history
80445650
80976891
531242
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlHABC_900629_900629
N/A
N/A
Control
No previous psychiatric history
82528792
82575935
47144
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlHABC_902550_902550
N/A
N/A
Control
No previous psychiatric history
82528792
82575935
47144
GRCh38
Deletion
No
kanduri_15_ASD_discovery_controls-control_split1305
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
84502161
84505577
3417
Unknown
Deletion
No
kanduri_15_ASD_discovery_controls-control_split1394
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
83950540
83954600
4061
Unknown
Deletion
No
kanduri_15_ASD_discovery_controls-control_split1522
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
83950540
83954600
4061
Unknown
Deletion
No
nord_11_ASD_discovery_controls-04C27962
Control
84445724
85404499
958776
Unknown
Duplication
sanders_11_ASD_discovery_controls-11032.s1
3.7
M
Control (matched sibling)
NA
NA
80340672
80353117
12446
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11051.s1
9.6
F
Control (matched sibling)
NA
NA
81118732
81128126
9395
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11205.s1
4.8
F
Control (matched sibling)
NA
NA
81177862
81185794
7933
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11218.s1
8.5
M
Control (matched sibling)
NA
NA
81119963
81128126
8164
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11325.s1
12.3
M
Control (matched sibling)
NA
NA
81115973
81128126
12154
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11429.s1
18.6
M
Control (matched sibling)
NA
NA
81797431
81807191
9761
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11433.s1
11.8
F
Control (matched sibling)
NA
NA
81177862
81185794
7933
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11446.s1
11
F
Control (matched sibling)
NA
NA
81119963
81128126
8164
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11450.s1
12.5
F
Control (matched sibling)
NA
NA
81115973
81128126
12154
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11488.s1
7.7
M
Control (matched sibling)
NA
NA
81119963
81128126
8164
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11504.s1
5.8
M
Control (matched sibling)
NA
NA
81118732
81128126
9395
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11518.s1
12.2
F
Control (matched sibling)
NA
NA
81119963
81128126
8164
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11545.s1
11.2
M
Control (matched sibling)
NA
NA
80340672
80355863
15192
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11554.s1
4.6
M
Control (matched sibling)
NA
NA
82080137
82128587
48451
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11592.s1
8
F
Control (matched sibling)
NA
NA
81119963
81128126
8164
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11600.s1
19.2
M
Control (matched sibling)
NA
NA
81119963
81128126
8164
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11712.s1
8.6
F
Control (matched sibling)
NA
NA
81177862
81185794
7933
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11715.s1
6.6
F
Control (matched sibling)
NA
NA
81172427
81185794
13368
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11722.s1
9.8
M
Control (matched sibling)
NA
NA
83768092
83773742
5651
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11740.s1
9.3
M
Control (matched sibling)
NA
NA
81119963
81128126
8164
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11798.s1
7.2
F
Control (matched sibling)
NA
NA
82777611
82806095
28485
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11798.s1
7.2
F
Control (matched sibling)
NA
NA
81119963
81128126
8164
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11920.s1
18.3
M
Control (matched sibling)
NA
NA
81119963
81128126
8164
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11982.s1
5.1
F
Control (matched sibling)
NA
NA
81119963
81128126
8164
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12052.s1
5.4
F
Control (matched sibling)
NA
NA
83394530
83454968
60439
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12162.s1
11
F
Control (matched sibling)
NA
NA
80688425
80834854
146430
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12162.s1
11
F
Control (matched sibling)
NA
NA
81119963
81128126
8164
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12225.s1
16.4
M
Control (matched sibling)
NA
NA
81119963
81133375
13413
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12227.s1
10.3
M
Control (matched sibling)
NA
NA
81598168
81634964
36797
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12238.s1
11
F
Control (matched sibling)
NA
NA
81150002
81160611
10610
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12261.s1
21.5
M
Control (matched sibling)
NA
NA
82528792
82589963
61172
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12337.s1
13.3
M
Control (matched sibling)
NA
NA
80810297
80813434
3138
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12351.s1
15.3
F
Control (matched sibling)
NA
NA
81119963
81133375
13413
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12361.s1
7.3
M
Control (matched sibling)
NA
NA
81119963
81128126
8164
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12382.s1
12.4
M
Control (matched sibling)
NA
NA
81119963
81133375
13413
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12435.s1
9
F
Control (matched sibling)
NA
NA
81119963
81128126
8164
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12536.s1
4.9
F
Control (matched sibling)
NA
NA
81119963
81128126
8164
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12579.s1
7.8
F
Control (matched sibling)
NA
NA
81119963
81128126
8164
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12603.s1
11.7
M
Control (matched sibling)
NA
NA
81119963
81128126
8164
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12628.s1
13.6
F
Control (matched sibling)
NA
NA
81119963
81128126
8164
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12653.s1
8.5
F
Control (matched sibling)
NA
NA
81125293
81128126
2834
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12708.s1
11.8
F
Control (matched sibling)
NA
NA
81119963
81128126
8164
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12817.s1
15.7
F
Control (matched sibling)
NA
NA
81119963
81128126
8164
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12933.s1
7.2
F
Control (matched sibling)
NA
NA
81119963
81128126
8164
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12969.s1
5.8
M
Control (matched sibling)
NA
NA
81119963
81128126
8164
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-13057.s1
4.2
F
Control (matched sibling)
NA
NA
81177862
81185794
7933
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-13070.s1
11.6
M
Control (matched sibling)
NA
NA
81119963
81128126
8164
GRCh38
Deletion
No
Cases
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
balciuniene_07_ASD_discovery_cases-case3
Unknown
Unknown
Unknown
0 genes
chaves_19_ASD/DD/ID_discovery_cases-case248
Unknown
RN7SKP238,GRID1
chaves_19_ASD/DD/ID_discovery_cases-case255
Unknown
RNA5SP322,GRID1
chong_14_DD/ID/ASD/MCA_discovery_cases-caseaCGH3832
Nimblegen aCGH
De novo
Unknown
Unknown
NRG3
digregorio_17_DD/ID_discovery_cases-DECIPHER_296557
Unknown
PRXL2A,TSPAN14
engchuan_15_ASD_discovery_cases-case14153_2520
Unknown
RPS7P9,FARSBP1,SH2D4B
engchuan_15_ASD_discovery_cases-case14383_1300
Unknown
RPS7P9,FARSBP1,SH2D4B
engchuan_15_ASD_discovery_cases-case4446_1
Unknown
RNA5SP322,GRID1
engchuan_15_ASD_discovery_cases-case8663_201
Unknown
NRG3
gai_11_ASD_replication_cases-AU001203
Inherited
NRG3 (intronic)
gai_11_ASD_replication_cases-AU001204
Inherited
NRG3 (intronic)
gazzellone_14_ASD_discovery_cases-case485-3
Unknown
Unknown
Unknown
GRID1-AS1,GRID1
girirajan_13a_ASD_discovery_cases-11545.p1
aCGH (NimbleGen 135K array)
Maternal
Simplex
Unknown
DYDC1,DYDC2
girirajan_13a_ASD_discovery_cases-12378.p1
aCGH (NimbleGen 135K array)
Maternal
Simplex
Unknown
DYDC1,DYDC2
girirajan_13a_ASD_discovery_cases-13611.p1
aCGH (NimbleGen 135K array)
Maternal
Simplex
Unknown
DYDC1,DYDC2
girirajan_13a_ASD_discovery_cases-13634.p1
aCGH (NimbleGen 135K array)
Paternal
Simplex
Unknown
DYDC1,DYDC2
girirajan_13a_ASD_discovery_cases-13889.p1
aCGH (NimbleGen 135K array)
Maternal
Simplex
Unknown
NRG3
girirajan_13a_ASD_discovery_cases-14055.p1
aCGH (NimbleGen 135K array)
Maternal
Simplex
Unknown
DYDC1,DYDC2
girirajan_13a_ASD_discovery_cases-14343.p1
aCGH (NimbleGen 135K array)
Maternal
Simplex
Unknown
DYDC1,DYDC2
girirajan_13a_ASD_discovery_cases-14348.p1
aCGH (NimbleGen 135K array)
Paternal
Simplex
Unknown
SH2D4B
girirajan_13a_ASD_discovery_cases-AU1763301
aCGH (NimbleGen 135K array)
Maternal
Multiplex
Unknown
DYDC1,DYDC2
girirajan_13b_ASD_discovery_cases-44106106924
Unknown
Unknown
Unknown
RNU6-325P,RN7SKP238,LINC01520,GRID1-AS1,GRID1
griswold_12_ASD_discovery_cases-case37276
qPCR
Paternal
Simplex
Not segregated
RNA5SP322,GRID1
hnoonual_17_ASD_discovery_cases-casePS37-3
Maternal
RNU6-441P,NRG3
kalsner_17_ASD_discovery_cases-case8
Maternal
Unknown
Unknown
RNU6-129P,RNU1-65P,HMGN2P8,CERNA2,LRIT2,LRIT1,LINC00858,RPL12P29,TNPO1P1,CACYBPP1,RPS3AP5,C10orf99,CDHR1,RGR,GHITM,CCSER2,LINC01519
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001665
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
RNU6-441P,RNU6-478P,RNU6-129P,NRG3-AS1,MARK2P15,NRG3
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002246
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Maternal
Unknown
Unknown
RNU6-478P,RNU6-129P,RNU1-65P,HMGN2P8,CERNA2,LRIT2,LRIT1,LINC00858,RPL12P29,TNPO1P1,CACYBPP1,MARK2P15,C10orf99,CDHR1,RGR,GHITM,CCSER2,NRG3
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002272
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
RNU6-441P,NRG3
krumm_15_ASD_discovery_cases-case11545.p1
Illumina 1M
Maternal
Simplex
Segregated
DYDC1,DYDC2
krumm_15_ASD_discovery_cases-case12378.p1
Illumina 1MDuo
Maternal
Simplex
Segregated
DYDC1,DYDC2
krumm_15_ASD_discovery_cases-case13634.p1
1M-Duov3
Paternal
Simplex
Segregated
DYDC1,DYDC2
krumm_15_ASD_discovery_cases-case14343.p1
Omni2.5-4v1
Maternal
Simplex
Segregated
DYDC1,DYDC2
leppa_16_ASD_discovery_cases-AU3057301
Maternal
Multiplex
Not segregated (CNV not present in affected sibling)
RNU6-129P,RNU1-65P,HMGN2P8,CERNA2,LRIT2,LRIT1,LINC00858,RPL12P29,TNPO1P1,CACYBPP1,RPS3AP5,C10orf99,CDHR1,RGR,GHITM,CCSER2
mosca_16_DCD_discovery_cases-case113903
Unknown
Unknown
Unknown
RPS7P9
nguyen_13_DD/ID/MCA/ASD_discovery_cases-251690
Unknown
Unknown
Unknown
RPS7P9,FARSBP1,WARS2P1,RPA2P2,RNU6-441P,NRG3-AS1,NRG3
nord_11_ASD_discovery_cases-239-1
Maternal
GRID1
nord_11_ASD_discovery_cases-239-1
Paternal
NRG3
pinto_14_ASD_discovery_cases2-case4446_1
qPCR (Griswold et al. 2011, PMID: 21360829)
Paternal
Simplex
(not tested)
RNA5SP322,GRID1
poultney_13_ASD_discovery_cases-case05HI2544A
Unknown
Unknown (likely multiplex/AGRE)
Unknown
DYDC1,DYDC2
poultney_13_ASD_discovery_cases-case05HI4548A
Unknown
Unknown (likely multiplex/AGRE)
Unknown
DYDC1,DYDC2
poultney_13_ASD_discovery_cases-case98HI0245A
Unknown
Unknown (likely multiplex/AGRE)
Unknown
DYDC1,DYDC2
prasad_12_ASD_discovery_cases-case139157
Unknown
Unknown
Unknown
0 genes
prasad_12_ASD_discovery_cases-case55310
Unknown
Simplex
Unknown
NRG3
prasad_12_ASD_discovery_cases-case60635
Unknown
Unknown
Unknown
DYDC1
sanders_11_ASD_discovery_cases-11073.p1
Paternal
Simplex (quad-proband matched)
Not segregated
NRG3
sanders_11_ASD_discovery_cases-11114.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11133.p1
Unknown
Simplex (trio)
NA
sanders_11_ASD_discovery_cases-11144.p1
Maternal
Simplex (quad-proband matched)
Not segregated
NRG3
sanders_11_ASD_discovery_cases-11165.p1
Maternal
Simplex (trio)
NA
sanders_11_ASD_discovery_cases-11205.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11218.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11232.p1
Paternal
Simplex (quad-proband unmatched)
Unknown
sanders_11_ASD_discovery_cases-11294.p1
Maternal
Simplex (trio)
NA
sanders_11_ASD_discovery_cases-11429.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11458.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11472.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11504.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11540.p1
Maternal
Simplex (quad-proband matched)
Not segregated
NRG3
sanders_11_ASD_discovery_cases-11545.p1
Maternal
Simplex (quad-proband matched)
Not segregated
DYDC1,DYDC2
sanders_11_ASD_discovery_cases-11592.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11630.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11711.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11712.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11740.p1
Both parents
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11768.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11972.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11982.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12029.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12030.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12076.p1
Maternal
Simplex (quad-proband matched)
Not segregated
NRG3
sanders_11_ASD_discovery_cases-12096.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12108.p1
Paternal
Simplex (quad-proband unmatched)
Unknown
sanders_11_ASD_discovery_cases-12162.p1
Maternal
Simplex (quad-proband matched)
Not segregated
RPS7P9,FARSBP1
sanders_11_ASD_discovery_cases-12224.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12227.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12238.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12287.p1
Maternal
Simplex (trio)
NA
sanders_11_ASD_discovery_cases-12296.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12306.p1
Both parents
Simplex (trio)
NA
sanders_11_ASD_discovery_cases-12315.p1
Maternal
Simplex (trio)
NA
NRG3
sanders_11_ASD_discovery_cases-12337.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12361.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12378.p1
Maternal
Simplex (quad-proband matched)
Not segregated
DYDC1,DYDC2
sanders_11_ASD_discovery_cases-12429.p1
Unknown
Simplex (trio)
NA
RNU6-129P
sanders_11_ASD_discovery_cases-12493.p1
Paternal
Simplex (quad-proband unmatched)
Unknown
sanders_11_ASD_discovery_cases-12552.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12579.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12603.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12607.p1
Paternal
Simplex (trio)
NA
sanders_11_ASD_discovery_cases-12628.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12656.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12708.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12764.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12799.p1
Unknown
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12969.p1
Both parents
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-13057.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-13070.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-13096.p1
Maternal
Simplex (quad-proband unmatched)
Unknown
sanders_11_ASD_discovery_cases-13322.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sansovic_17_DD/ID/ASD_discovery_cases-case29
Unknown
NRG3
stobbe_13_ASD_discovery_cases-case6
Unknown
Unknown (possible simplex)
Unknown
NRG3
vaags_11_ASD_discovery_cases-probandF2-003
Unknown
Multiplex
Unknown
Controls
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
brandler_18_ASD_discovery_controls-controlSSC08632
SNP VCF
De novo
engchuan_15_ASD_discovery_controls-controlB248665_1007854152
Unknown
NRG3
engchuan_15_ASD_discovery_controls-controlB524961_1007872292
Unknown
LINC01519
engchuan_15_ASD_discovery_controls-controlHABC_900270_900270
Unknown
DYDC1,DYDC2
engchuan_15_ASD_discovery_controls-controlHABC_900270_900270
Unknown
RPS7P9,FARSBP1,WARS2P1,TSPAN14,SH2D4B
engchuan_15_ASD_discovery_controls-controlHABC_900629_900629
Unknown
NRG3
engchuan_15_ASD_discovery_controls-controlHABC_902550_902550
Unknown
NRG3
kanduri_15_ASD_discovery_controls-control_split1305
Unknown
NRG3 (intronic)
kanduri_15_ASD_discovery_controls-control_split1394
Unknown
NRG3 (intronic)
kanduri_15_ASD_discovery_controls-control_split1522
Unknown
NRG3 (intronic)
nord_11_ASD_discovery_controls-04C27962
NRG3
sanders_11_ASD_discovery_controls-11032.s1
Maternal
Simplex (quad)
NA
DYDC1,DYDC2
sanders_11_ASD_discovery_controls-11051.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11205.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11218.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11325.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11429.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11433.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11446.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11450.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11488.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11504.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11518.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11545.s1
Maternal
Simplex (quad)
NA
DYDC1,DYDC2
sanders_11_ASD_discovery_controls-11554.s1
Maternal
Simplex (quad)
NA
NRG3
sanders_11_ASD_discovery_controls-11592.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11600.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11712.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11715.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11722.s1
Unknown
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11740.s1
Both parents
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11798.s1
Maternal
Simplex (quad)
NA
NRG3
sanders_11_ASD_discovery_controls-11798.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11920.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11982.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12052.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12162.s1
Maternal
Simplex (quad)
NA
RPS7P9,FARSBP1
sanders_11_ASD_discovery_controls-12162.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12225.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12227.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12238.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12261.s1
Paternal
Simplex (quad)
NA
NRG3
sanders_11_ASD_discovery_controls-12337.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12351.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12361.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12382.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12435.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12536.s1
Both parents
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12579.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12603.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12628.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12653.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12708.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12817.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12933.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12969.s1
Both parents
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-13057.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-13070.s1
Paternal
Simplex (quad)
NA
No Animal Model Data Available