16q22.1CNV Type: Deletion-Duplication
Largest CNV size: 890000 bp
Statistics Box:
Number of Reports: 23
Number of Reports: 23
Summary Information
Summary statement in development
Additional Locus Information
References
Major Reports
Title
Author, Year
Report Class
CNV Type
Novel submicroscopic chromosomal abnormalities detected in autism spectrum disorder.
Duplication
Functional impact of global rare copy number variation in autism spectrum disorders.
Duplication
An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabili...
Deletion-Duplication
Use of array CGH to detect exonic copy number variants throughout the genome in autism families detects a novel deletion in TMLHE.
Deletion
Refinement and discovery of new hotspots of copy-number variation associated with autism spectrum disorder.
Duplication
De novo mutations in the genome organizer CTCF cause intellectual disability.
Deletion
Excess of rare, inherited truncating mutations in autism.
Deletion-Duplication
CTCF deletion syndrome: clinical features and epigenetic delineation.
Deletion
Minor Reports
Title
Author, Year
Report Class
CNV Type
Intra-family phenotypic heterogeneity of 16p11.2 deletion carriers in a three-generation Chinese family.
Deletion
Multiple recurrent de novo CNVs, including duplications of the 7q11.23 Williams syndrome region, are strongly associated with autism.
Deletion-Duplication
Relative burden of large CNVs on a range of neurodevelopmental phenotypes.
Deletion
Rare deletions at the neurexin 3 locus in autism spectrum disorder.
Duplication
Dual copy number variants involving 16p11 and 6q22 in a case of childhood apraxia of speech and pervasive developmental disorder.
Duplication
A discovery resource of rare copy number variations in individuals with autism spectrum disorder.
Duplication
Global increases in both common and rare copy number load associated with autism.
Deletion
Transmission disequilibrium of small CNVs in simplex autism.
Duplication
Identification of small exonic CNV from whole-exome sequence data and application to autism spectrum disorder.
Deletion-Duplication
Copy number variation in Han Chinese individuals with autism spectrum disorder.
Duplication
Performance of case-control rare copy number variation annotation in classification of autism.
Deletion-Duplication
Paternally inherited cis-regulatory structural variants are associated with autism.
Deletion
Cases
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
brandler_18_ASD_replication_cases
Affected individuals from MSSNG cohort (1395 cases from 1187 families) and the Simons Simplex 2 (SSC2) cohort (584 cases from simplex quad families)
1979
Cases diagnosed with ASD
N/A
N/A
5566
2
0
2
celestino-soper_11_ASD_discovery_cases
ASD probands from Simons Simplex Collection (SSC) trios. 90 of the probands in this study were also used in the Sanders et al. 2011 CNV report.
99
ASD
87.88% Male
20901
2
0
2
christian_08_ASD_discovery_cases
Subset of unrelated AGRE subjects (362 from multiplex families, 35 from simplex families)
397
ASD
58.4% Male
890000
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
407093
3
3
6
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
92336
0
1
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.
460029
2
0
2
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
1173656
0
4
4
girirajan_13a_DD_discovery_cases
Data from individuals with developmental delay derived from two published reports (Cooper et al., 2011 & Kaminsky et al., 2011)
31518
Developmental delay
NA
NA
0
0
0
0
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
597791
5
0
5
gregor_13_ID_discovery_cases
Female patient from DECIPHER database (DECIPHER ID# 2150) with deletion affecting the CTCF gene
1
Moderate intellectual disability and behavioral anomalies (autistic behavior, sleeping disturbances, temper tantrums)
15 yrs.
Female
280000
1
0
1
hori_17_DD_discovery_cases
Two Japanese female patients presenting with de novo 16q22.1 deletions encompassing the CTCF gene
2
Both cases presented with developmental delay, autistic behavior, growth delay, feeding difficulties, and dysmorphic features; one case also presented with epilepsy.
Range, 4-6 years
Female
1600000
2
0
2
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
1171265
1
3
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
58679
0
4
4
krumm_15_ASD_discovery_cases
Probands from the Simons Simplex Collection
2377
Diagnosis of ASD
N/A
N/A
58679
2
4
6
larson_17_ASD_discovery_cases
Participants with a dual diagnosis of ASD and psychosis that were recruited from clinical services in the public and independent sectors in the United Kingdom, as well as from charities and an Asperger's syndrome social networking website (study took place from January 2011 and April 2014)
116
All cases with a dual diagnosis of ASD and psychosis (affective, schizophrenic, and atypical)
N/A
N/A
155025
0
2
2
newbury_12_ASD/CAS_discovery_cases
Second-born child of healthy, non-consanguineous parents with no family history of speech delay, autistic disorders, and mental retardation
1
Diagnosis of PDD-NOS (according to DSM-IV) and childhood apraxia of speech (CAS)
14 yrs.
Male
48038
0
1
1
pinto_10_ASD_discovery_cases
Autism Genome Project (AGP) consortium patient cohort from families with at least two ASD individuals
996
ASD (ADI-R and ADOS): strict, broad, or spectrum ASD
220283
0
1
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)
223151
1
3
4
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
119701
0
2
2
sanders_11_ASD_discovery_cases
Autistic probands from the Simons Simplex Collection (SSC). 872 probands in quartet families, 272 probands in trios.
1124
ASD diagnosis: 89.5% autism; 8.5% PDD-NOS, 2% Asperger syndrome. Mean full-scale IQ 85.1 1.5 (mean verbal IQ, 81.9 1.7; mean non-verbal IQ, 88.4 1.4)
Mean, 9.1 yrs.
86.1% Male
194344
6
7
13
shen_10b_ASD_discovery_cases
Father and son from a three-generation Chinese family with ASD and language delay.
2
Diagnosis of ASD based upon DSM-IV criteria.
Range, 12-41 yrs.
100% Male
188770
2
0
2
tan_23_ID_discovery_cases
Individual with a 16q22.1 microdeletion of unknown origin affecting the CTCF gene recruited from the Second Affiliated Hospital of Chongqing Medical University (Chongqing, China).
1
Case presented with moderate intellectual disability, short stature (height <3rd %ile), strabismus, and scoliosis.
22 yrs.
Female
9504
1
0
1
vaags_11_ASD_discovery_cases
Discovery cohort of Canadian individuals with ASD
1158
ASD
NA
NA
21243
0
1
1
yuan_23_ASD_discovery_cases
ASD probands from 353 pedigrees (338 simplex trios, 15 multiplex families) recruited from the Department of Child and Adolescent Psychiatry, Shanghai Mental Health Center (Shanghai, China).
369
Cases diagnosed with ASD using DSM-IV.
NA
NA
18219
0
1
1
Controls
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
brandler_18_ASD_replication_controls
Unaffected individuals from the Simons Simplex 2 (SSC2) cohort (584 controls from simplex quad families)
584
Control (unaffected siblings from simplex quad families)
N/A
N/A
4980
1
0
1
christian_08_ASD_discovery_controls
Control subjects from NIMH Genetics Initiative Control sample set, characterized for Axis I disorders
372
Controls
890000
0
0
0
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
219833
3
10
13
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.
1347821
1
5
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
0
0
0
0
girirajan_13a_ASD_discovery_controls3
Controls assessed for CNVs within 120 SD-mediated hotspots; includes 2090 controls from Wellcome Trust Case-Control Consortium (girirajan_13_ASD_discovery_controls2)
8329
Control
NA
NA
0
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
470567
5
1
6
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
62403
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
58679
1
2
3
krumm_15_ASD_discovery_controls
Unaffected siblings from quad families from the Simons Simplex Collection
1786
Control
N/A
N/A
58679
2
3
5
larson_17_ASD_discovery_controls
Entries listed in the Database of Genomic Variants (up to October 2017)
N/A
Control
N/A
N/A
155025
0
1
1
leblond_19_ASD_discovery_controls
Control cohort consisting of 136 unaffected relatives of ASD cases and 185 non-autism controls
321
Control
N/A
N/A
208780
0
1
1
levy_11_ASD_discovery_controls
Unaffected siblings of autistic probands from 887 families from the Simons Simplex Collection (SSC)
863
Control
47.97% Male
60988
0
1
1
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.
53285
2
1
3
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)
370088
0
3
3
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)
119701
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.
220713
6
4
10
Cases
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
brandler_18_ASD_replication_cases
N/A
WGS
Illumina HiSeq X10
ForestSV, Lumpy, Manta, Mobster, SV2
None
celestino-soper_11_ASD_discovery_cases
aCGH
Agilent 1M
ADM-2
Agilent Feature Extraction v10.7.3.1, Agilent DNA Analytics v4.0.76
Solid phase hybridization (Illumina 1M SNP), aCGH (Agilent 4x180K or 8x60K)
christian_08_ASD_discovery_cases
235 White/Not Hispanic, 28 White/Hispanic, 9 Asians, 4 Blacks, 14 Mixed/Not Hispanic, 7 Mixed/Hispanic, 98 Unknown
aCGH
RPCI 19K BAC microarray
FISH, microsatellite, qPCR
engchuan_15_ASD_discovery_cases
Caucasian
Solid phase hybridization
Illumina 1M
None
gazzellone_14_ASD_discovery_cases
Han Chinese
Array SNP
Affymetrix CytoScan HD
ChAS, iPattern, Nexus, Partek
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
aCGH (NimbleGen 135K array)
girirajan_13a_DD_discovery_cases
NA
N/A
N/A
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
gregor_13_ID_discovery_cases
N/A
aCGH
Agilent 244K
MLPA
hori_17_DD_discovery_cases
Japanese
aCGH
Agilent SurePrint G3 Human CGH Microarray Kit 2x400K
Agilent CytoGenomics V.2.0.6.0
FISH
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_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)
larson_17_ASD_discovery_cases
United Kingdom
Array SNP
Affymetrix CytoScan HD 2.8M, Affymetrix Cytogenetics
SNP-FASST2 Segmentation
Nexus Copy Number 7 (BioDiscovery), Affymetrix ChAS
None
newbury_12_ASD/CAS_discovery_cases
European (Caucasian)
aCGH
Agilent 244K
Agilent Feature Extraction v8.5, Agilent CGH Analytics v3.4
None
pinto_10_ASD_discovery_cases
European
Solid phase hybridization
Illumina Infinium 1M SNP microarray
QuantiSNP, iPattern
qPCR, long-range PCR (LR-PCR), MLPA, FISH, aCGH (Agilent 1M), array SNP (Affymetrix 500K)
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
shen_10b_ASD_discovery_cases
Chinese
aCGH
Agilent 244K
DNA Analytics
tan_23_ID_discovery_cases
China
WES
Illumina HiSeq 4000
NA
ExomeDepth
CNV-seq, qPCR
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
yuan_23_ASD_discovery_cases
China
WES
Illumina HiSeq
NA
GATK v.4.2.0.0.
None
Controls
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
brandler_18_ASD_replication_controls
N/A
WGS
Illumina HiSeq X10
ForestSV, Lumpy, Manta, Mobster, SV2
None
christian_08_ASD_discovery_controls
262 Caucasians, 100 African-Americans
aCGH
RPCI 19K BAC microarray
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
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_13a_ASD_discovery_controls3
NA
Array SNP
N/A
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
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)
larson_17_ASD_discovery_controls
N/A
N/A
N/A
leblond_19_ASD_discovery_controls
Faroe Islands
Solid phase hybridization, WES
Illumina Infinium IlluminaOmni5-4 BeadChip, AgilentSureSelect Human All Exon V5
PennCNV, QuantiSNP
XHMM
None
levy_11_ASD_discovery_controls
aCGH
NimbleGen HD2
HMM
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
None
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
brandler_18_ASD_replication_cases-caseAU3786301
N/A
M
ASD
Case from MSSNG cohort
68118895
68124460
5566
GRCh38
Deletion
No
brandler_18_ASD_replication_cases-caseSSC12172
N/A
M
ASD
Case from SSC_phase2 cohort
70529874
70534853
4980
GRCh38
Deletion
No
celestino-soper_11_ASD_discovery_cases-11006
NA
M
ASD
NA
NA
70140963
70161864
20902
GRCh38
Deletion
Yes
celestino-soper_11_ASD_discovery_cases-11399
NA
M
ASD
NA
NA
67029009
67029463
455
GRCh38
Deletion
No
christian_08_ASD_discovery_cases-AU002905
NA
F
ASD
NA
NA
71399983
72290545
890563
GRCh38
Duplication
Yes
engchuan_15_ASD_discovery_cases-case13069_823
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
69964182
70107659
143478
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case3308_4
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
69964182
70136283
172102
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case3429_3
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
68569895
68976988
407094
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case4210_1
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
66881543
67124372
242830
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case5456_3
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
69964182
70184464
220283
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case8588_201
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
69964185
70107212
143028
GRCh38
Deletion
No
gazzellone_14_ASD_discovery_cases-case678-3
N/A
F
ASD
ASD; no other clinical information provided
N/A
68250580
68342916
92337
GRCh38
Duplication
No
girirajan_11_ASD_discovery_cases-Si225
11
F
Autism
ADOS score: 8. Vineland composite score: 69.
Moderate mental retardation/intellectual disability. Full-scale IQ, 42; Verbal IQ, 30; Non-verbal IQ, 49.
69979050
70161637
182588
GRCh38
Deletion
No
girirajan_11_ASD_discovery_cases-Si7
17
M
Autism
ADOS score: NA. Vineland composite score: 67.
No mental retardation/intellectual disability. Full-scale IQ, 77; Verbal IQ, 88; Non-verbal IQ, 73.
69701608
70161637
460030
GRCh38
Deletion
No
girirajan_13a_ASD_discovery_cases-13769.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
70291648
71216782
925135
GRCh38
Duplication
Yes
girirajan_13a_ASD_discovery_cases-AU1300302
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
70332991
70370445
37455
GRCh38
Duplication
Yes
girirajan_13a_ASD_discovery_cases-AU1551302
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
70241369
71415025
1173657
GRCh38
Duplication
Yes
girirajan_13a_ASD_discovery_cases-AU1699302
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
70331701
70372703
41003
GRCh38
Duplication
Yes
girirajan_13b_ASD_discovery_cases-13107107988
N/A
N/A
Autism
Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Caucasian
N/A
69936654
70161637
224984
GRCh38
Deletion
No
girirajan_13b_ASD_discovery_cases-15910112885
N/A
N/A
Autism
Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Hispanic
N/A
69979050
70161637
182588
GRCh38
Deletion
No
girirajan_13b_ASD_discovery_cases-20207108119
N/A
N/A
Autism
Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Caucasian
N/A
69835737
70161637
325901
GRCh38
Deletion
No
girirajan_13b_ASD_discovery_cases-3007107649
N/A
N/A
Autism
Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Caucasian
N/A
69563846
70161637
597792
GRCh38
Deletion
No
girirajan_13b_ASD_discovery_cases-9505103679
N/A
N/A
Autism
Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Hispanic
N/A
70013917
70161637
147721
GRCh38
Deletion
No
gregor_13_ID_discovery_cases-I4
15 yrs.
F
Intellectual disability and autistic features
Case present in DECIPHER database (DECIPHER ID# 2150). Birth/neonatal history: birth at 40 weeks; birth weight 2900 g, birth length 49 cm, birth OFC not determined; feeding difficulties. Developmental milestones: walking at age of 30 months, first words at age of 2 years. Motor and musculoskeletal evaluation: muscular hypotonia. Behavioral/psychiatric evaluation: behavioral anomalies include autistic behavior, sleeping disturbances, and temper tantrums. Brain imaging: CT at age of 1 year revealed dilated left ventricle. Dysmorphic features: high forehead, hypertelorism, thick eyebrows, long eyelashes, epicanthic folds, low-set posteriorly rotated ears, long philtrum, thin lips, hypertrichosis, sandal gaps, broad 1st toe. Growth parameters: weight of 40.5 kg (-1.74 SD), height of 156 cm (-1.94 SD), and OFC of 54 cm (-0.84 SD). Family history: N/A.
Moderate intellectual disability
67367083
67644007
276925
GRCh38
Deletion
Yes
hori_17_DD_discovery_cases-case1
4 yrs.
F
Developmental delay and autistic behavior
Birth/neonatal history: born by vaginal delivery at 39 weeks gestation with no perinatal abnormalities; birth weight of 2515 g (-1.2 SD), length of 47.0 cm (-0.67 SD), and OFC of 31 cm (-1.6 SD); feeding difficulties. Developmental milestones: moderate developmental delay (able to hold her head up by 5 months, crawling at 2 years, standing while holding on to things at 3 years, walking while holding on to something at 4 years). Language and communication evaluation: absent speech (no meaningful words at 4 years). Motor and musculoskeletal evaluation: bilateral short fifth fingers. Behavioral/psychiatric evaluation: autistic behavior. Dysmorphic features: hypertelorism, epicanthus, short philtrum, bilateral nail dysplasia of fifth fingers. Growth parameters: growth delay, microcephaly; weight -2.3 SD, height -3.2 SD, and OFC of -2.8 SD at 4 years. Family history: no family history of any relevant diseases; non-consanguineous parents; three healthy older brothers.
Development Quotient Score of 19 (Kyoto Scale of Psychological Development)
67066097
68166097
1100001
GRCh38
Deletion
Yes
hori_17_DD_discovery_cases-case2
6 yrs.
F
Developmental delay, autistic behavior, and epilepsy
Birth/neonatal history: born by vaginal delivery at 39 weeks gestation with no perinatal abnormalities; birth weight of 2490 g (-1.3 SD), length of 45.0 cm (-1.62 SD), and OFC of 31 cm (-1.6 SD); feeding difficulties. Developmental milestones: mild-moderate developmental delay (able to sit up without support at 1 year 1 month, walking without support at 1 year 11 months, able to speak meaningful words at 1 year 9 months). Motor and musculoskeletal evaluation: muscular hypotonia (low muscle tone); tapering fingers. Behavioral/psychiatric evaluation: autistic behavior. Epilepsy/seizures: epileptic seizures. Additional medical history: growth hormone deficiency. Dysmorphic features: hypertelorism, epicanthus, short philtrum, thin upper lip, horizontal eyebrows. Growth parameters: growth delay; weight -2.6 SD, height -3.5 SD, and OFC -2.1 SD before growth hormone therapy; weight -0.9 SD, height -1.4 SD, and OFC -1.3 SD after GH therapy. Family history: no family history of any relevant diseases; non-consanguineous parents.
IQ score of 63 (Tanaka-Binet Test)
67266097
68866097
1600001
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001700
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
66694180
67865445
1171266
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001992
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
68611956
68888428
276473
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002239
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
68611956
68888428
276473
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004521
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
66963495
67004242
40748
GRCh38
Duplication
Yes
krumm_13_ASD_discovery_cases-case12100.p1
N/A
M
ASD
ASD proband from SSC quad family 12100. SRS score of 90.
Full-scale IQ (FSIQ) score of 71.
70680793
70681025
233
GRCh38
Duplication
No (not tested)
krumm_13_ASD_discovery_cases-case12790.p1
N/A
M
ASD
ASD proband from SSC quad family 12790. SRS score of 84.
Full-scale IQ (FSIQ) score of 31.
70329291
70371563
42273
GRCh38
Duplication
No (not tested)
krumm_13_ASD_discovery_cases-case13825.p1
N/A
F
ASD
ASD proband from SSC quad family 13825. SRS score of 90.
Full-scale IQ (FSIQ) score of 58.
68190767
68249446
58680
GRCh38
Duplication
No (not tested)
krumm_13_ASD_discovery_cases-case14201.p1
N/A
M
ASD
ASD proband from SSC quad family 14201. SRS score of 90.
Full-scale IQ (FSIQ) score of 43.
68676384
68679974
3591
GRCh38
Duplication
No (not tested)
krumm_15_ASD_discovery_cases-case11223.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Trio
70253267
70261157
7891
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_cases-case11377.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
69714963
69718534
3572
GRCh38
Deletion
Yes
krumm_15_ASD_discovery_cases-case11544.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
70253267
70265102
11836
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_cases-case12648.p1
N/A
Female
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
70276485
70282763
6279
GRCh38
Deletion
Yes
krumm_15_ASD_discovery_cases-case12790.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
70333501
70371565
38065
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_cases-case13825.p1
N/A
Female
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
68190767
68249446
58680
GRCh38
Duplication
Yes
larson_17_ASD_discovery_cases-case103
N/A
N/A
ASD and psychosis
No additional clinical information available. Patient carries CNV that is present in DGV (less than 1.5%) but was not present in 1124 ASD cases without psychosis from the Simons Simplex Collection.
70008826
70163851
155026
GRCh38
Duplication
No
larson_17_ASD_discovery_cases-case104
N/A
N/A
ASD and psychosis
No additional clinical information available. Patient carries CNV that is present in DGV (less than 1.5%) but was not present in 1124 ASD cases without psychosis from the Simons Simplex Collection.
70008826
70163851
155026
GRCh38
Duplication
No
newbury_12_ASD/CAS_discovery_cases-case1
14 yrs.
M
PDD-NOS and CAS
Diagnosis of PDD-NOS (according to DSM-IV) and childhood apraxia of speech (CAS). Developmental milestones: normal early development until age of 1.5 years (evidence of social withdrawal). Language and communication evaluation: assessment with Vineland Adaptive Behavior Scale (VABS) showed remarkable impairment in langauge and communication; at age of 14 years, case scored at an age equivalent of 3 years and 3 months in the communication domain, with major impairment in expressive subdomain. Behavioral/psychiatric evaluation: displayed stereotypic movements and behavioral disturbances with self-aggressive episodes. Vision and hearing evaluation: normal. Dysmorphic features: heavy eyebrows with mild synophris, down-slanting palpebral fissures, hypertelorism, short philtrum, carp shaped mouth, full lips. Growth parameters: normal height & weight, macrocephaly. Family history: second-born child of unrelated and healthy parents; parents were clinically normal with no family history of speech delay, autistic disorders or mental retardation.
70114836
70162874
48039
GRCh38
Duplication
No
pinto_10_ASD_discovery_cases-case5456_3
NA
M
ASD
NA
NA
69964182
70184464
220283
GRCh38
Duplication
Yes
poultney_13_ASD_discovery_cases-case00HI1504A
N/A
F
ASD
ASD case from AGRE (AGRE ID AU031204; NDAR ID NDAR_INVEA742BMB)
68867079
68880630
13552
GRCh38
Duplication
No
poultney_13_ASD_discovery_cases-case05HI3885A
N/A
F
ASD
ASD case from AGRE (AGRE ID AU1094302; NDAR ID NDAR_INVCD419FWA)
69954332
70153573
199242
GRCh38
Deletion
No
poultney_13_ASD_discovery_cases-case05HI4420A
N/A
M
ASD
ASD case from AGRE (AGRE ID AU1056301; NDAR ID NDAR_INVBK224THK)
69954332
70153573
199242
GRCh38
Duplication
No
poultney_13_ASD_discovery_cases-case99HI1075A
N/A
M
ASD
ASD case from AGRE (AGRE ID AU024105; NDAR ID NDAR_INVFC762XU2)
69954332
70177482
223151
GRCh38
Duplication
No
prasad_12_ASD_discovery_cases-case36773
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
68021196
68140896
119701
Unknown
Duplication
No
prasad_12_ASD_discovery_cases-case85287L
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
68925000
68961522
36523
Unknown
Duplication
No
sanders_11_ASD_discovery_cases-11001.p1
7.8
M
Autism
NA
Full-scale IQ, 124; non-verbal IQ, 123; verbal IQ, 113
66639465
66660940
21476
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
69964182
70136283
172102
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11270.p1
6
M
Autism
NA
Full-scale IQ, 46; non-verbal IQ, 49; verbal IQ, 47
69976555
70107659
131105
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11446.p1
8.3
M
Autism
NA
Full-scale IQ, 68; non-verbal IQ, 76; verbal IQ, 63
70468707
70475707
7001
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11544.p1
15.5
M
Autism
NA
Full-scale IQ, 115; non-verbal IQ, 112; verbal IQ, 113
70249433
70258907
9475
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11550.p1
8.1
M
Autism
NA
Full-scale IQ, 99; non-verbal IQ, 99; verbal IQ, 99
69990399
70162409
172011
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11680.p1
8
M
Autism
NA
Full-scale IQ, 71; non-verbal IQ, 82; verbal IQ, 54
69193820
69197349
3530
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11931.p1
6.6
M
Autism
NA
Full-scale IQ, 58; non-verbal IQ, 69; verbal IQ, 51
66644319
66660940
16622
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12119.p1
5.2
M
Autism
NA
Full-scale IQ, 48; non-verbal IQ, 55; verbal IQ, 41
70127341
70216651
89311
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12648.p1
9.8
F
Autism
NA
Full-scale IQ, 97; non-verbal IQ, 96; verbal IQ, 100
70275334
70279689
4356
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-13076.p1
6.7
M
ASD
NA
Full-scale IQ, 89; non-verbal IQ, 85; verbal IQ, 102
70148122
70194942
46821
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-13089.p1
8.4
M
Autism
NA
Full-scale IQ, 77; non-verbal IQ, 88; verbal IQ, 48
69990399
70159583
169185
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-13193.p1
6.3
M
Autism
NA
Full-scale IQ, 81; non-verbal IQ, 86; verbal IQ, 81
69964185
70158529
194345
GRCh38
Duplication
No
shen_10b_ASD_discovery_cases-caseII:5
41 yrs.
M
ASD
Diagnosis of ASD based upon DSM-IV criteria. Birth/neonatal history: born at 40 weeks gestation, normal delivery. Developmental milestones: significant learning disability during childhood, speech delay. Language and communication evaluation: non-communicative. Motor and musculoskeletal evaluation: normal gait. Behavioral/psychiatric evaluation: repetitive motor mannerisms; social difficulty. History of alcohol abuse. Other medical concerns and comorbidities: elevated serum lipid and uric acid levels. Dysmorphic features: flat face, down-slanting eyes, broad nasal bridge, large submaxilla, thick upper lip, low-set ears, terminal broadening of fingers. Growth parameters: height, 160 cm; weight, 67 kg; BMI, 26.17; OFC, NA.
IQ not tested; significant childhood learning disability
68606309
68795079
188770
Unknown
Deletion
No
shen_10b_ASD_discovery_cases-caseIII:1
12 yrs.
M
ASD
Diagnosis of ASD based upon DSM-IV criteria. Birth/neonatal history: exposure to traditional Chinese medicine and second-hand smoke during pregnancy, born at 40 weeks gestation, normal delivery. Developmental milestones: growth delay; gross motor delay (sitting at 10 months, walking at 2 years); fine motor delay; speech delay (said "Mama and "Dada" at 2 years). Language and communication evaluation: no formal psychiatric evaluation; impairment in social interaction and communication, repetitive motor mannerisms, murmured to himself, irritability, unhappy mood. Motor and musculoskeletal evaluation: unsteady gait, scoliosis in chest and lumbar spine; wedge-shaped hemivertebra, or half vertebra in T7, L3. Behavioral/psychiatric evaluation:. EEG: normal. MRI: normal. Vision: bilateral myopia with right strabismus and ptosis. Other medical concerns and comorbidities: congenital heart defect (atrial septal defect/ASD). Dysmorphic features: low posterior hairline, significant hair growth on back, long and flat face, hypertelorism, down-slanting eyes, ptosis, strabismus in right eye, flat and broad nasal bridge, large submaxilla, retrognathia, thick lower lip, high palate, low-set ears, short webbed neck, terminal broadening of fingers, clinodactyly, single transverse palmar crease. Growth parameters: height, 135 cm (<3rd %ile; short stature); weight, 35 kg (50th %ile); BMI, 19.20; OFC, 53 cm (25th-50th %ile). Family history: father with ASD; brother with language delay but no ASD (also inherited 16p11.2 deletion from autistic father).
Mental retardation. WISC IQ score of 46.
68606309
68795079
188770
Unknown
Deletion
No
tan_23_ID_discovery_cases-case1
22 yrs.
F
Intellectual disability
Short stature (height <3rd %ile), strabismus, scoliosis.
Moderate intellectual disability
67628369
67637872
9504
GRCh38
Deletion
Yes
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)
70140763
70162005
21243
GRCh38
Duplication
No
yuan_23_ASD_discovery_cases-qma01340s000
NA
NA
ASD
Case diagnosed with ASD according to DSM-IV criteria.
67610584
67628802
18219
GRCh38
Duplication
No
Controls
Patient ID
Author, Year
Age
Gender
Primary Diagnosis
Clinical Profile
Cognitive Profile
CNV Start
CNV End
CNV Size
Genome Build
Type Method
Validation
brandler_18_ASD_replication_controls-controlSSC12178
N/A
F
control
Control from SSC_phase2 cohort
70529874
70534853
4980
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlB198132_1007872242
N/A
N/A
Control
No previous psychiatric history
70072296
70136283
63988
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlB228755_1007841231
N/A
N/A
Control
No previous psychiatric history
69964182
70157430
193249
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlB277390_1007875280
N/A
N/A
Control
No previous psychiatric history
69942576
70162409
219834
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlB658466_1007853295
N/A
N/A
Control
No previous psychiatric history
70030086
70219303
189218
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlB978910_1007853764
N/A
N/A
Control
No previous psychiatric history
69964182
70173905
209724
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlHABC_900048_900048
N/A
N/A
Control
No previous psychiatric history
69956416
70107659
151244
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlHABC_900575_900575
N/A
N/A
Control
No previous psychiatric history
70534338
70576655
42318
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlHABC_900605_900605
N/A
N/A
Control
No previous psychiatric history
69964185
70127341
163157
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlHABC_900705_900705
N/A
N/A
Control
No previous psychiatric history
69166588
69204261
37674
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlHABC_900884_900884
N/A
N/A
Control
No previous psychiatric history
69982478
70197778
215301
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlHABC_902501_902501
N/A
N/A
Control
No previous psychiatric history
70048728
70194942
146215
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlHABC_902521_902521
N/A
N/A
Control
No previous psychiatric history
70123665
70197778
74114
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlHABC_902749_902749
N/A
N/A
Control
No previous psychiatric history
70105639
70216651
111013
GRCh38
Duplication
No
girirajan_11_ASD_discovery_controls-NIMH_103
NA
NA
Control
NA
NA
69194678
70542499
1347822
GRCh38
Deletion
No
girirajan_11_ASD_discovery_controls-NIMH_200
NA
NA
Control
NA
NA
70081001
70239430
158430
GRCh38
Duplication
No
girirajan_11_ASD_discovery_controls-NIMH_209
NA
NA
Control
NA
NA
70114842
70271829
156988
GRCh38
Duplication
No
girirajan_11_ASD_discovery_controls-NIMH_239
NA
NA
Control
NA
NA
70047922
70195037
147116
GRCh38
Duplication
No
girirajan_11_ASD_discovery_controls-NIMH_305
NA
NA
Control
NA
NA
70631700
70688727
57028
GRCh38
Duplication
No
girirajan_11_ASD_discovery_controls-NIMH_77
NA
NA
Control
NA
NA
70645311
70715320
70010
GRCh38
Duplication
No
girirajan_13b_ASD_discovery_controls-10905103688
N/A
N/A
Control
Ethnicity: Hispanic
N/A
70013917
70161637
147721
GRCh38
Deletion
No
girirajan_13b_ASD_discovery_controls-21209111345
N/A
N/A
Control
Ethnicity: Caucasian
N/A
70114842
70269833
154992
GRCh38
Deletion
No
girirajan_13b_ASD_discovery_controls-27909111544
N/A
N/A
Control
Ethnicity: Hispanic
N/A
70013917
70195037
181121
GRCh38
Deletion
No
girirajan_13b_ASD_discovery_controls-33505103850
N/A
N/A
Control
Ethnicity: Hispanic
N/A
69869256
70195037
325782
GRCh38
Deletion
No
girirajan_13b_ASD_discovery_controls-55009112409
N/A
N/A
Control
Ethnicity: Hispanic
N/A
67983087
68453654
470568
GRCh38
Deletion
No
girirajan_13b_ASD_discovery_controls-71704102974
N/A
N/A
Control
Ethnicity: Hispanic
N/A
70114842
70271829
156988
GRCh38
Duplication
No
kanduri_15_ASD_discovery_controls-control_split140
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
70716742
70779144
62403
Unknown
Deletion
No
krumm_13_ASD_discovery_controls-control13169.s1
N/A
M
Control
Unaffected sibling from SSC quad family 13169. SRS score of 40.
70252720
70262524
9805
GRCh38
Duplication
No (not tested)
krumm_13_ASD_discovery_controls-control13227.s1
N/A
F
Control
Unaffected sibling from SSC quad family 13227. SRS score of 39.
66933986
66938241
4256
GRCh38
Deletion
No (not tested)
krumm_13_ASD_discovery_controls-control13825.s1
N/A
F
Control
Unaffected sibling from SSC quad family 13825. SRS score of 71.
68190767
68249446
58680
GRCh38
Duplication
No (not tested)
krumm_15_ASD_discovery_controls-control11544.s1
N/A
Male
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
70252720
70261157
8438
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_controls-control12512.s1
N/A
Female
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
70654537
70659755
5219
GRCh38
Deletion
Yes
krumm_15_ASD_discovery_controls-control12648.s1
N/A
Female
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
70276485
70282763
6279
GRCh38
Deletion
Yes
krumm_15_ASD_discovery_controls-control13169.s1
N/A
Male
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
70252720
70262524
9805
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_controls-control13825.s1
N/A
Female
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
68190767
68249446
58680
GRCh38
Duplication
Yes
leblond_19_ASD_discovery_controls-controlPN400282
N/A
F
Control
Non-autism control
69939786
70148560
208775
GRCh38
Duplication
No
levy_11_ASD_discovery_controls-11555.s1
NA
F
Control
NA
NA
70590292
70651279
60988
GRCh38
Duplication
No
nord_11_ASD_discovery_controls-04C26744
Control
65820185
65840751
20567
Unknown
Deletion
nord_11_ASD_discovery_controls-04C26875
Control
65863815
65917099
53285
Unknown
Duplication
nord_11_ASD_discovery_controls-04C27669
Control
67761776
67780454
18679
Unknown
Deletion
poultney_13_ASD_discovery_controls-control04C27774A
N/A
F
Control
NIMH Control (NIMH ID 62995)
68557996
68928083
370088
GRCh38
Duplication
No
poultney_13_ASD_discovery_controls-control04C37985A
N/A
F
Control
NIMH Control (NIMH ID 75535)
69954332
70153573
199242
GRCh38
Duplication
No
poultney_13_ASD_discovery_controls-control05C39822A
N/A
F
Control
NIMH Control (NIMH ID 15431)
69954332
70153573
199242
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11218.s1
8.5
M
Control (matched sibling)
NA
NA
69964182
70136283
172102
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11229.s1
6.1
M
Control (matched sibling)
NA
NA
66644319
66651265
6947
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11266.s1
5.8
F
Control (matched sibling)
NA
NA
69964185
70015041
50857
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11328.s1
9.5
F
Control (matched sibling)
NA
NA
66644319
66660940
16622
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11328.s1
9.5
F
Control (matched sibling)
NA
NA
69289934
69295920
5987
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11642.s1
7.6
F
Control (matched sibling)
NA
NA
69964185
70184898
220714
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11794.s1
4.3
F
Control (matched sibling)
NA
NA
68723503
68745790
22288
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-13073.s1
6.6
M
Control (matched sibling)
NA
NA
69976555
70190757
214203
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-13076.s1
19.5
F
Control (matched sibling)
NA
NA
67553378
67564371
10994
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-13076.s1
19.5
F
Control (matched sibling)
NA
NA
67486708
67494673
7966
GRCh38
Deletion
No
Cases
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
brandler_18_ASD_replication_cases-caseAU3786301
No validation step reported
Maternal
NFATC3
brandler_18_ASD_replication_cases-caseSSC12172
No validation step reported
Paternal
SF3B3
celestino-soper_11_ASD_discovery_cases-11006
Solid phase hybridization (Illumina 1M SNP), aCGH (Agilent 4x180K or 8x60K)
De novo
Simplex
NA
PDPR
celestino-soper_11_ASD_discovery_cases-11399
Unknown
Simplex
NA
CBFB
christian_08_ASD_discovery_cases-AU002905
FISH, microsatellite
de novo
Multiplex
NA
RNU6-1061P,TAT,TAT-AS1,RNU6-208P,SNORA70D,SNORD71,ATP5F1AP3,LINC02136,ZNF23,ZNF19,CHST4,MARVELD3,AP1G1,ATXN1L,IST1,ZNF821,RPL39P31,DHODH,HP,HPR,DHX38,PMFBP1,TLE7,PHLPP2,PKD1L3,TXNL4B,LINC01572
engchuan_15_ASD_discovery_cases-case13069_823
Unknown
MIR1972-2,CLEC18A,PDXDC2P,PDXDC2P-NPIPB14P,NPIPB14P
engchuan_15_ASD_discovery_cases-case3308_4
Unknown
MIR1972-2,CLEC18A,PDXDC2P,PDXDC2P-NPIPB14P,NPIPB14P,PDPR
engchuan_15_ASD_discovery_cases-case3429_3
Unknown
HSPE1P5,RNA5SP429,FTLP14,ZFP90,CDH3,CDH1,TANGO6
engchuan_15_ASD_discovery_cases-case4210_1
Unknown
RRAD,CIAO2B,RN7SL543P,PDP2,CDH16,CES2,CES3,CES4A,CBFB,C16orf70
engchuan_15_ASD_discovery_cases-case5456_3
Unknown
MIR1972-2,CLEC18C,CLEC18A,PDXDC2P,PDXDC2P-NPIPB14P,NPIPB14P,PDPR
engchuan_15_ASD_discovery_cases-case8588_201
Unknown
MIR1972-2,CLEC18A,PDXDC2P,PDXDC2P-NPIPB14P,NPIPB14P
gazzellone_14_ASD_discovery_cases-case678-3
Unknown
Unknown
Unknown
RNU6-1262P,RNU4-30P,PLA2G15,PRMT7,SLC7A6,SLC7A6OS
girirajan_11_ASD_discovery_cases-Si225
Unknown
Simplex
MIR1972-2,PDXDC2P,PDXDC2P-NPIPB14P,NPIPB14P,PDPR
girirajan_11_ASD_discovery_cases-Si7
Unknown
Simplex
MIR140,MIR1972-2,NQO1,NOB1,CLEC18A,PDXDC2P,NFAT5,WWP2,PDXDC2P-NPIPB14P,NPIPB14P,PDPR
girirajan_13a_ASD_discovery_cases-13769.p1
aCGH (NimbleGen 135K array)
De novo
Simplex
Possibly segregated
RPS27P26,RNU6-23P,SNORD111B,SNORD111,RNU6ATAC25P,DDX19B,DDX19A,FUK,SF3B3,MTSS1L,VAC14-AS1,ST3GAL2,COG4,IL34,VAC14,HYDIN
girirajan_13a_ASD_discovery_cases-AU1300302
aCGH (NimbleGen 135K array)
Paternal
Multiplex
Unknown
DDX19B,DDX19A
girirajan_13a_ASD_discovery_cases-AU1551302
aCGH (NimbleGen 135K array)
Paternal
Multiplex
Segregated
EXOSC6,RN7SL279P,RPS27P26,RNU6-23P,SNORD111B,SNORD111,RNU6ATAC25P,SMG1P7,DDX19B,DDX19A,FUK,SF3B3,MTSS1L,VAC14-AS1,CMTR2,CALB2,LINC02136,ST3GAL2,COG4,IL34,VAC14,HYDIN,AARS
girirajan_13a_ASD_discovery_cases-AU1699302
aCGH (NimbleGen 135K array)
Maternal
Multiplex
Unknown
DDX19B,DDX19A
girirajan_13b_ASD_discovery_cases-13107107988
Unknown
Unknown
Unknown
MIR1972-2,CLEC18A,PDXDC2P,WWP2,PDXDC2P-NPIPB14P,NPIPB14P,PDPR
girirajan_13b_ASD_discovery_cases-15910112885
Unknown
Unknown
Unknown
MIR1972-2,PDXDC2P,PDXDC2P-NPIPB14P,NPIPB14P,PDPR
girirajan_13b_ASD_discovery_cases-20207108119
Unknown
Unknown
Unknown
MIR140,MIR1972-2,CLEC18A,PDXDC2P,WWP2,PDXDC2P-NPIPB14P,NPIPB14P,PDPR
girirajan_13b_ASD_discovery_cases-3007107649
Unknown
Unknown
Unknown
MIR1538,MIR140,MIR1972-2,NQO1,NOB1,CLEC18A,PDXDC2P,NFAT5,WWP2,PDXDC2P-NPIPB14P,NPIPB14P,PDPR
girirajan_13b_ASD_discovery_cases-9505103679
Unknown
Unknown
Unknown
MIR1972-2,PDXDC2P,PDXDC2P-NPIPB14P,PDPR
gregor_13_ID_discovery_cases-I4
MLPA
De novo
Unknown
Unknown
TPPP3,RNU1-123P,AGRP,ZDHHC1,HSD11B2,ATP6V0D1,RIPOR1,LRRC36,CTCF
hori_17_DD_discovery_cases-case1
FISH
De novo
Simplex
Likely segregated
B3GNT9,FBXL8,HSF4,KIAA0895L,EXOC3L1,E2F4,ELMO3,MIR328,TMEM208,TPPP3,RNU1-123P,AGRP,ACD,PARD6A,C16orf86,THAP11,NRN1L,PSMB10,LCAT,KARSP3,DPEP2NB,RNU6-359P,DDX28,CBFB,C16orf70,TRADD,NOL3,LRRC29,PLEKHG4,KCTD19,RN7SKP118,ZDHHC1,HSD11B2,ATP6V0D1,RIPOR1,CARMIL2,ENKD1,GFOD2,TSNAXIP1,CENPT,NUTF2,EDC4,CTRL,SLC12A4,DPEP3,DPEP2,FHOD1,SLC9A5,LRRC36,CTCF,RANBP10,PSKH1,DUS2,NFATC3
hori_17_DD_discovery_cases-case2
FISH
De novo
Simplex
Likely segregated
TPPP3,RNU1-123P,AGRP,ACD,PARD6A,C16orf86,THAP11,NRN1L,PSMB10,LCAT,KARSP3,DPEP2NB,RNU6-359P,DDX28,RPS12P27,ESRP2,MIR6773,RNU6-1262P,RNU4-30P,RPL35AP33,RNU4-36P,HSPE1P5,RNA5SP429,FTLP14,PLEKHG4,KCTD19,RN7SKP118,ZDHHC1,HSD11B2,ATP6V0D1,RIPOR1,CARMIL2,ENKD1,GFOD2,TSNAXIP1,CENPT,NUTF2,EDC4,CTRL,SLC12A4,DPEP3,DPEP2,PLA2G15,PRMT7,SLC9A5,LRRC36,CTCF,RANBP10,PSKH1,DUS2,SLC7A6,SLC7A6OS,SMPD3,ZFP90,CDH3,CDH1,TANGO6,NFATC3
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001700
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
De novo
Unknown
Unknown
RRAD,CIAO2B,RN7SL543P,B3GNT9,FBXL8,HSF4,KIAA0895L,EXOC3L1,E2F4,ELMO3,MIR328,TMEM208,TPPP3,RNU1-123P,AGRP,ACD,PARD6A,C16orf86,THAP11,CMTM4,DYNC1LI2,TERB1,PDP2,CDH16,CES2,CES3,CES4A,CBFB,C16orf70,TRADD,NOL3,LRRC29,PLEKHG4,KCTD19,RN7SKP118,ZDHHC1,HSD11B2,ATP6V0D1,RIPOR1,CARMIL2,ENKD1,GFOD2,TSNAXIP1,CENPT,NUTF2,NAE1,CA7,FHOD1,SLC9A5,LRRC36,CTCF,RANBP10
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001992
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Paternal
Unknown
Unknown
HSPE1P5,RNA5SP429,FTLP14,CDH3,CDH1,TANGO6
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002239
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Maternal
Unknown
Unknown
HSPE1P5,RNA5SP429,FTLP14,CDH3,CDH1,TANGO6
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004521
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
CES3,CES4A
krumm_13_ASD_discovery_cases-case12100.p1
Paternal
Simplex
Segregated
MTSS1L
krumm_13_ASD_discovery_cases-case12790.p1
Paternal
Simplex
Segregated
DDX19B,DDX19A
krumm_13_ASD_discovery_cases-case13825.p1
Maternal
Simplex
Not segregated
RPS12P27,ESRP2,MIR6773,PLA2G15,NFATC3
krumm_13_ASD_discovery_cases-case14201.p1
Maternal
Simplex
Segregated
CDH3
krumm_15_ASD_discovery_cases-case11223.p1
Illumina 1M
Maternal
Simplex
Segregated
AARS
krumm_15_ASD_discovery_cases-case11377.p1
Illumina 1M
Paternal
Simplex
Segregated
NQO1
krumm_15_ASD_discovery_cases-case11544.p1
Illumina 1M
Paternal
Simplex
Not segregated (CNV in unaffected sibling)
AARS
krumm_15_ASD_discovery_cases-case12648.p1
Illumina 1MDuo
Paternal
Simplex
Not segregated (CNV in unaffected sibling)
AARS
krumm_15_ASD_discovery_cases-case12790.p1
Illumina 1MDuo
Paternal
Simplex
Segregated
DDX19B,DDX19A
krumm_15_ASD_discovery_cases-case13825.p1
Omni2.5-4v1
Maternal
Simplex
Not segregated (CNV in unaffected sibling)
RPS12P27,ESRP2,MIR6773,PLA2G15,NFATC3
larson_17_ASD_discovery_cases-case103
Unknown
Unknown
MIR1972-2,PDXDC2P,PDXDC2P-NPIPB14P,PDPR
larson_17_ASD_discovery_cases-case104
Unknown
Unknown
MIR1972-2,PDXDC2P,PDXDC2P-NPIPB14P,PDPR
newbury_12_ASD/CAS_discovery_cases-case1
Unknown
Simplex
Unknown (common in DGV)
PDPR
pinto_10_ASD_discovery_cases-case5456_3
Agilent1M
paternal
NA
NA
MIR1972-2,CLEC18C,CLEC18A,PDXDC2P,PDXDC2P-NPIPB14P,NPIPB14P,PDPR
poultney_13_ASD_discovery_cases-case00HI1504A
Unknown
Unknown (likely multiplex/AGRE)
Unknown
TANGO6
poultney_13_ASD_discovery_cases-case05HI3885A
Unknown
Unknown (likely multiplex/AGRE)
Unknown
MIR1972-2,CLEC18A,PDXDC2P,PDXDC2P-NPIPB14P,NPIPB14P,PDPR
poultney_13_ASD_discovery_cases-case05HI4420A
Unknown
Unknown (likely multiplex/AGRE)
Unknown
MIR1972-2,CLEC18A,PDXDC2P,PDXDC2P-NPIPB14P,NPIPB14P,PDPR
poultney_13_ASD_discovery_cases-case99HI1075A
Unknown
Unknown (likely multiplex/AGRE)
Unknown
MIR1972-2,CLEC18C,CLEC18A,PDXDC2P,PDXDC2P-NPIPB14P,NPIPB14P,PDPR
prasad_12_ASD_discovery_cases-case36773
Unknown
Unknown
Unknown
CYB5B
prasad_12_ASD_discovery_cases-case85287L
Unknown
Unknown
Unknown
DDX19A,DDX19B
sanders_11_ASD_discovery_cases-11001.p1
Maternal
Simplex (trio)
NA
CMTM4
sanders_11_ASD_discovery_cases-11218.p1
Unknown
Simplex (quad-proband matched)
Segregated
MIR1972-2,CLEC18A,PDXDC2P,PDXDC2P-NPIPB14P,NPIPB14P,PDPR
sanders_11_ASD_discovery_cases-11270.p1
Paternal
Simplex (quad-proband matched)
Not segregated
MIR1972-2,PDXDC2P,PDXDC2P-NPIPB14P,NPIPB14P
sanders_11_ASD_discovery_cases-11446.p1
Both parents
Simplex (quad-proband matched)
Segregated
FUK
sanders_11_ASD_discovery_cases-11544.p1
Paternal
Simplex (quad-proband matched)
Not segregated
EXOSC6,AARS
sanders_11_ASD_discovery_cases-11550.p1
Paternal
Simplex (quad-proband matched)
Not segregated
MIR1972-2,PDXDC2P,PDXDC2P-NPIPB14P,NPIPB14P,PDPR
sanders_11_ASD_discovery_cases-11680.p1
Maternal
Simplex (trio)
NA
UTP4,SNTB2
sanders_11_ASD_discovery_cases-11931.p1
Unknown
Simplex (trio)
NA
CMTM4
sanders_11_ASD_discovery_cases-12119.p1
Maternal
Simplex (trio)
NA
CLEC18C,PDPR
sanders_11_ASD_discovery_cases-12648.p1
Paternal
Simplex (quad-proband matched)
Not segregated
RN7SL279P,AARS
sanders_11_ASD_discovery_cases-13076.p1
Paternal
Simplex (quad-proband matched)
Not segregated
CLEC18C,PDPR
sanders_11_ASD_discovery_cases-13089.p1
Maternal
Simplex (quad-proband matched)
Not segregated
MIR1972-2,PDXDC2P,PDXDC2P-NPIPB14P,NPIPB14P,PDPR
sanders_11_ASD_discovery_cases-13193.p1
Paternal
Simplex (quad-proband matched)
Not segregated
MIR1972-2,CLEC18A,PDXDC2P,PDXDC2P-NPIPB14P,NPIPB14P,PDPR
shen_10b_ASD_discovery_cases-caseII:5
Maternal
Simplex
Unknown
PDPR,CLEC18C
shen_10b_ASD_discovery_cases-caseIII:1
Paternal
Paternal
Simplex (ASD), Multiplex (language delay)
Not segregated
PDPR,CLEC18C
tan_23_ID_discovery_cases-case1
CNV-seq, qPCR
Unknown
CTCF
Reduced CTCF mRNA expression in patient-derived blood cells compared to controls.
vaags_11_ASD_discovery_cases-probandF2-003
Unknown
Multiplex
Unknown
PDPR
yuan_23_ASD_discovery_cases-qma01340s000
De novo
CTCF
Controls
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
brandler_18_ASD_replication_controls-controlSSC12178
No validation step reported
Paternal
SF3B3
engchuan_15_ASD_discovery_controls-controlB198132_1007872242
Unknown
PDPR
engchuan_15_ASD_discovery_controls-controlB228755_1007841231
Unknown
MIR1972-2,CLEC18A,PDXDC2P,PDXDC2P-NPIPB14P,NPIPB14P,PDPR
engchuan_15_ASD_discovery_controls-controlB277390_1007875280
Unknown
MIR1972-2,CLEC18A,PDXDC2P,PDXDC2P-NPIPB14P,NPIPB14P,PDPR
engchuan_15_ASD_discovery_controls-controlB658466_1007853295
Unknown
MIR1972-2,CLEC18C,PDXDC2P,PDXDC2P-NPIPB14P,PDPR
engchuan_15_ASD_discovery_controls-controlB978910_1007853764
Unknown
MIR1972-2,CLEC18C,CLEC18A,PDXDC2P,PDXDC2P-NPIPB14P,NPIPB14P,PDPR
engchuan_15_ASD_discovery_controls-controlHABC_900048_900048
Unknown
MIR1972-2,CLEC18A,PDXDC2P,PDXDC2P-NPIPB14P,NPIPB14P
engchuan_15_ASD_discovery_controls-controlHABC_900575_900575
Unknown
SNORD111,SF3B3
engchuan_15_ASD_discovery_controls-controlHABC_900605_900605
Unknown
MIR1972-2,CLEC18A,PDXDC2P,PDXDC2P-NPIPB14P,NPIPB14P,PDPR
engchuan_15_ASD_discovery_controls-controlHABC_900705_900705
Unknown
RNU6-22P,UTP4,SNTB2
engchuan_15_ASD_discovery_controls-controlHABC_900884_900884
Unknown
MIR1972-2,CLEC18C,PDXDC2P,PDXDC2P-NPIPB14P,NPIPB14P,PDPR
engchuan_15_ASD_discovery_controls-controlHABC_902501_902501
Unknown
CLEC18C,PDXDC2P,PDXDC2P-NPIPB14P,PDPR
engchuan_15_ASD_discovery_controls-controlHABC_902521_902521
Unknown
CLEC18C,PDPR
engchuan_15_ASD_discovery_controls-controlHABC_902749_902749
Unknown
CLEC18C,PDPR
girirajan_11_ASD_discovery_controls-NIMH_103
Unknown
PDF,NIP7,TMED6,MIR1538,MIR140,MIR1972-2,CLEC18C,EXOSC6,RN7SL279P,RPS27P26,RNU6-23P,SNORD111B,SNORD111,VPS4A,TERF2,CYB5B,NQO1,NOB1,CLEC18A,PDXDC2P,SMG1P7,DDX19B,DDX19A,FUK,SF3B3,COG8,NFAT5,WWP2,PDXDC2P-NPIPB14P,NPIPB14P,PDPR,ST3GAL2,COG4,UTP4,SNTB2,AARS
girirajan_11_ASD_discovery_controls-NIMH_200
Unknown
CLEC18C,SMG1P7,PDPR
girirajan_11_ASD_discovery_controls-NIMH_209
Unknown
CLEC18C,EXOSC6,SMG1P7,PDPR,AARS
girirajan_11_ASD_discovery_controls-NIMH_239
Unknown
CLEC18C,PDXDC2P,PDXDC2P-NPIPB14P,PDPR
girirajan_11_ASD_discovery_controls-NIMH_305
Unknown
MTSS1L,IL34,VAC14
girirajan_11_ASD_discovery_controls-NIMH_77
Unknown
MTSS1L,IL34,VAC14
girirajan_13b_ASD_discovery_controls-10905103688
Unknown
MIR1972-2,PDXDC2P,PDXDC2P-NPIPB14P,PDPR
girirajan_13b_ASD_discovery_controls-21209111345
Unknown
CLEC18C,EXOSC6,SMG1P7,PDPR,AARS
girirajan_13b_ASD_discovery_controls-27909111544
Unknown
MIR1972-2,CLEC18C,PDXDC2P,PDXDC2P-NPIPB14P,PDPR
girirajan_13b_ASD_discovery_controls-33505103850
Unknown
MIR140,MIR1972-2,CLEC18C,CLEC18A,PDXDC2P,WWP2,PDXDC2P-NPIPB14P,NPIPB14P,PDPR
girirajan_13b_ASD_discovery_controls-55009112409
Unknown
KARSP3,DPEP2NB,RNU6-359P,DDX28,RPS12P27,ESRP2,MIR6773,RNU6-1262P,RNU4-30P,DPEP2,PLA2G15,PRMT7,DUS2,SLC7A6,SLC7A6OS,SMPD3,NFATC3
girirajan_13b_ASD_discovery_controls-71704102974
Unknown
CLEC18C,EXOSC6,SMG1P7,PDPR,AARS
kanduri_15_ASD_discovery_controls-control_split140
Unknown
MTSS1L,VAC14
krumm_13_ASD_discovery_controls-control13169.s1
Paternal
Simplex
AARS
krumm_13_ASD_discovery_controls-control13227.s1
Maternal
Simplex
CIAO2B,CES2
krumm_13_ASD_discovery_controls-control13825.s1
Maternal
Simplex
RPS12P27,ESRP2,MIR6773,PLA2G15,NFATC3
krumm_15_ASD_discovery_controls-control11544.s1
Illumina 1M
Paternal
AARS
krumm_15_ASD_discovery_controls-control12512.s1
Illumina 1MDuo
De novo
IL34
krumm_15_ASD_discovery_controls-control12648.s1
Illumina 1MDuo
Paternal
AARS
krumm_15_ASD_discovery_controls-control13169.s1
Illumina 1MDuo
Paternal
AARS
krumm_15_ASD_discovery_controls-control13825.s1
Omni2.5-4v1
Maternal
RPS12P27,ESRP2,MIR6773,PLA2G15,NFATC3
leblond_19_ASD_discovery_controls-controlPN400282
Unknown
MIR1972-2,CLEC18A,PDXDC2P,WWP2,PDXDC2P-NPIPB14P,NPIPB14P,PDPR
levy_11_ASD_discovery_controls-11555.s1
Paternal
Simplex
NA
IL34
nord_11_ASD_discovery_controls-04C26744
FHOD1,SLC9A5,TMEM208
nord_11_ASD_discovery_controls-04C26875
PLEKHG4,KCTD19
nord_11_ASD_discovery_controls-04C27669
SNTB2
poultney_13_ASD_discovery_controls-control04C27774A
Unknown
HSPE1P5,RNA5SP429,FTLP14,ZFP90,CDH3,CDH1,TANGO6
poultney_13_ASD_discovery_controls-control04C37985A
Unknown
MIR1972-2,CLEC18A,PDXDC2P,PDXDC2P-NPIPB14P,NPIPB14P,PDPR
poultney_13_ASD_discovery_controls-control05C39822A
Unknown
MIR1972-2,CLEC18A,PDXDC2P,PDXDC2P-NPIPB14P,NPIPB14P,PDPR
sanders_11_ASD_discovery_controls-11218.s1
Paternal
Simplex (quad)
NA
MIR1972-2,CLEC18A,PDXDC2P,PDXDC2P-NPIPB14P,NPIPB14P,PDPR
sanders_11_ASD_discovery_controls-11229.s1
Unknown
Simplex (quad)
NA
CMTM4
sanders_11_ASD_discovery_controls-11266.s1
Paternal
Simplex (quad)
NA
CLEC18A,PDXDC2P,PDXDC2P-NPIPB14P,NPIPB14P
sanders_11_ASD_discovery_controls-11328.s1
Paternal
Simplex (quad)
NA
CMTM4
sanders_11_ASD_discovery_controls-11328.s1
Maternal
Simplex (quad)
NA
SNTB2
sanders_11_ASD_discovery_controls-11642.s1
Maternal
Simplex (quad)
NA
MIR1972-2,CLEC18C,CLEC18A,PDXDC2P,PDXDC2P-NPIPB14P,NPIPB14P,PDPR
sanders_11_ASD_discovery_controls-11794.s1
Paternal
Simplex (quad)
NA
RNA5SP429,CDH1
sanders_11_ASD_discovery_controls-13073.s1
Maternal
Simplex (quad)
NA
MIR1972-2,CLEC18C,PDXDC2P,PDXDC2P-NPIPB14P,NPIPB14P,PDPR
sanders_11_ASD_discovery_controls-13076.s1
Paternal
Simplex (quad)
NA
CTCF
sanders_11_ASD_discovery_controls-13076.s1
Paternal
Simplex (quad)
NA
No Animal Model Data Available