4q31.3CNV Type: Deletion-Duplication
Largest CNV size: 388008 bp
Statistics Box:
Number of Reports: 16
Number of Reports: 16
Summary Information
Summary statement in development
Additional Locus Information
References
Major Reports
Title
Author, Year
Report Class
CNV Type
Structural variation of chromosomes in autism spectrum disorder.
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...
Duplication
Excess of rare, inherited truncating mutations in autism.
Deletion-Duplication
Paternally inherited cis-regulatory structural variants are associated with autism.
Deletion
Cross-Disorder Analysis of Genic and Regulatory Copy Number Variations in Bipolar Disorder
Deletion
Genomic analysis of 116 autism families strengthens known risk genes and highlights promising candidates
Duplication
Minor Reports
Title
Author, Year
Report Class
CNV Type
Rare structural variation of synapse and neurotransmission genes in autism.
Deletion
Multiple recurrent de novo CNVs, including duplications of the 7q11.23 Williams syndrome region, are strongly associated with autism.
Deletion-Duplication
Rare de novo and transmitted copy-number variation in autistic spectrum disorders.
Deletion
A discovery resource of rare copy number variations in individuals with autism spectrum disorder.
Deletion-Duplication
Refinement and discovery of new hotspots of copy-number variation associated with autism spectrum disorder.
Deletion
Identification of small exonic CNV from whole-exome sequence data and application to autism spectrum disorder.
Deletion
Both rare and de novo copy number variants are prevalent in agenesis of the corpus callosum but not in cerebellar hypoplasia or polymicrogyria.
Duplication
Performance of case-control rare copy number variation annotation in classification of autism.
Deletion-Duplication
Genome-wide analysis of copy number variations identifies PARK2 as a candidate gene for autism spectrum disorder.
Duplication
Cases
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
brandler_18_ASD_discovery_cases
Affected individuals from the Relating Genes with Adolescent and Child Health (REACH) cohort (362 cases from 311 families; 54 multiplex, 243 simplex) and the Simons Simplex 1 (SSC1) cohort (518 cases from simplex quad families)
880
REACH cohort: 285 cases diagnosed with ASD, 43 cases diagnosed with PDD-NOS, 10 cases diagnosed with ADHD, and 24 cases presenting with speech delay, epilepsy, anxiety, or other related developmental disorders that were classified as cases for bioinformatics analyses; Simons Simplex Collection 1 (SSC1) cohort: all 518 cases were diagnosed with ASD
N/A
N/A
8282
1
0
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
129877
1
1
2
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
106642
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
310000
1
0
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
579045
0
2
2
krumm_15_ASD_discovery_cases
Probands from the Simons Simplex Collection
2377
Diagnosis of ASD
N/A
N/A
387779
3
2
5
kushima_22_ASD_discovery_cases
Japanese ASD probands evaluated for copy number variation from an initial cohort of 1,236 probands before quality control.
1205
Cases diagnosed with autism spectrum disorder (ASD) according to DSM-5 criteria.
Median age, 19 yrs.
77.6% Male
290060
1
0
1
levy_11_ASD_discovery_cases
Autistic probands from 887 families from the Simons Simplex Collection (SSC)
858
ASD
87.06% Male
98403
1
0
1
marshall_08_ASD_discovery_cases
Cohort of ASD families (237 simplex, 189 mulitplex) recruited from the Hospital for Sick Children, McMaster Univ., Memorial Univ., and other sites
427
ASD
388008
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
129878
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)
4415
1
0
1
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
105020
2
1
3
sajan_13_ACC/CBLH/PMG_discovery_cases
Individuals with severe congenital brain malformations [agenesis of the corpus callosum (ACC), cerebellar hypoplasia (CBLH), and/or polymicrogyria (PMG)] and additional neurodevelopmental phenotypes
487
Diagnosis of agenesis of the corpus callosum (ACC), cerebellar hypoplasia (CBLH), and/or polymicrogyria (PMG); additional diagnoses of autism spectrum disorder (ASD), developmental delay (DD), intellectual disability (ID) and/or seizures in some patients
N/A
N/A
379255
0
1
1
sanders_11_ASD_discovery_cases
Autistic probands from the Simons Simplex Collection (SSC). 872 probands in quartet families, 272 probands in trios.
1124
ASD diagnosis: 89.5% autism; 8.5% PDD-NOS, 2% Asperger syndrome. Mean full-scale IQ 85.1 1.5 (mean verbal IQ, 81.9 1.7; mean non-verbal IQ, 88.4 1.4)
Mean, 9.1 yrs.
86.1% Male
80670
42
1
43
viggiano_24_ASD_discovery_cases
ASD probands from 116 families (89 simplex, 25 multiplex, and two monozygotic twin pairs) recruited by UOSI Disturbi dello Spettro Autistico (IRCCS Istituto delle Scienze Neurologiche, Bologna, Italy)
144
Cases clinically diagnosed with ASD according to DSM-5 criteria and assessed using ADOS-2 and CARS-2.
Age of diagnosis, 40.1 +/- 22.4 mos. (range, 17-181 mos.)
76.39% Male
60624
0
1
1
yin_16_ASD_discovery_cases
Discovery cohort of ASD cases recruited from the Department of Psychiatry of National Taiwan University Hospital (NTUH), Chang Gung Memorial Hospital (CGMH), Taoyuan, and Taoyuan Mental Hospital (TMH), Taiwan.
335
Cases diagnosed with autistic disorder according to DSM-IV and confirmed by using the Chinese version of ADI-R. Cases' autistic behaviors assessed by Social Responsiveness Scale (SRS), and cognitive functions assessed by the Weschler Intelligence Scale for Children-Third Edition (WISC-III) and the Wisconsin Card Sorting Test (WCST).
Mean, 9.39 4.04 yrs.
89.3% Male
9797
0
1
1
Controls
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
engchuan_15_ASD_discovery_controls
Platform-matched controls from three large studies: SAGE (Study of Addiction Genetics and Environment), Ontario Colorectal Cancer study, and HABC (Health Aging and Body Composition)
2342
Controls; subjects had no previous psychiatric history
N/A
46.67% Male
410828
1
3
4
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
2526
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
343291
0
1
1
krumm_15_ASD_discovery_controls
Unaffected siblings from quad families from the Simons Simplex Collection
1786
Control
N/A
N/A
387779
1
3
4
kushima_22_ASD/BPD/SCZ_discovery_controls
Psychiatrically normal control individuals selected from the general population evaluated for copy number variation from an initial cohort of 2,713 control individuals before quality control.
2671
Controls were psychiatrically normal and had no history of mental disorders based on responses to questionnaires or self-reporting.
Median age, 36 yrs.
47.8% Male
0
0
0
0
levy_11_ASD_discovery_controls
Unaffected siblings of autistic probands from 887 families from the Simons Simplex Collection (SSC)
863
Control
47.97% Male
404454
0
1
1
marshall_08_ASD_discovery_controls_1
German PopGen project and entries from Database of Genomic Variants
500
Controls
0
0
0
0
marshall_08_ASD_discovery_controls_2
Non-disease controls from Ontario population
1152
Controls
0
0
0
0
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)
7830
1
0
1
prasad_12_ASD_discovery_controls
PDx controls [1000 DNA samples from reportedly healthy donors (50.2% male) from BioServe (Beltsville, MD)] and 4139 in-house controls previously reported in Krawcak et al. 2006, Stewart et al. 2009, and Bierut et al. 2010. CNVs identified in controls were used to define rare ASD-specific CNVs.
5139
Control
NA
NA (PDx controls 50.2% male)
105020
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.
398760
29
1
30
yin_16_ASD_discovery_controls
Individuals from the Han Chinese Cell and Genome Bank (HCCGB) in Taiwan
1093
Controls
Mean, 68.07 10.12 yrs.
48.0% Male
9797
0
0
0
Cases
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
brandler_18_ASD_discovery_cases
N/A
WGS
Illumina HiSeq X10 or HiSeq 2500
ForestSV, Lumpy, Manta, Mobster, SV2
PCR, array SNP
engchuan_15_ASD_discovery_cases
Caucasian
Solid phase hybridization
Illumina 1M
None
gai_11_ASD_replication_cases
European
Solid phase hybridization
Illumina Infinium II HumanHap550 BeadChip
BeadStudio 3.0
None
girirajan_13a_ASD_discovery_cases
NA
aCGH
Custom microarray with a high density of probes targeted to 1,367 regions with a susceptible genomic architecture
ADM-2
Agilent Genomic Workbench
None
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)
kushima_22_ASD_discovery_cases
Japan
aCGH
NimbleGen 720K Whole-Genome Tiling, Agilent SurePrint G3 Human CGH 400K
Fast Adaptive States Segmentation Technique 2
BioDiscovery Nexus Copy Number v.9.0
qRT-PCR
levy_11_ASD_discovery_cases
aCGH
NimbleGen HD2
HMM
marshall_08_ASD_discovery_cases
90% European, 4.5% European-mixed, 4.5% Asian, 0.07% African
Array SNP, karotyping
Affymetrix 500K
dChip, CNAG, GEMCA
qPCR, qmPCR
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
sajan_13_ACC/CBLH/PMG_discovery_cases
81.31% Caucasian
Solid phase hybridization
Illumina InfiniumII HumanHap610
PennCNV
None (not tested or failure to confirm by qPCR)
sanders_11_ASD_discovery_cases
White non-Hispanic, 74.5%; mixed, 9.3%, Asian, 4.3%, White Hispanic, 4.0%, African-American, 3.8%; other, 4.2&
Solid phase hybridization
Illumina 1M v1, Illumina 1M v3
PennCNV, QuantiSNP, GNOSIS
viggiano_24_ASD_discovery_cases
Italy
Array SNP, WGS
Illumina Infinium PsychArray
PennCNV, QuantiSNP, CNVPartition
Canvas
Array SNP or WGS
yin_16_ASD_discovery_cases
Han Chinese
Array SNP
Affymetrix 6.0
Affymetrix Genotyping Console v.4.1
None
Controls
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
engchuan_15_ASD_discovery_controls
Caucasian
Solid phase hybridization
Illumina 1M
None
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)
kushima_22_ASD/BPD/SCZ_discovery_controls
Japan
aCGH
NimbleGen 720K Whole-Genome Tiling, Agilent SurePrint G3 Human CGH 400K
Fast Adaptive States Segmentation Technique 2
BioDiscovery Nexus Copy Number v.9.0
qRT-PCR
levy_11_ASD_discovery_controls
aCGH
NimbleGen HD2
HMM
marshall_08_ASD_discovery_controls_1
European
Array SNP, karotyping
Affymetrix 500K
dChip, CNAG, GEMCA
marshall_08_ASD_discovery_controls_2
European
Array SNP, karotyping
Affymetrix 500K
dChip, CNAG, GEMCA
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
yin_16_ASD_discovery_controls
Han Chinese
Array SNP
Affymetrix 6.0
Affymetrix Genotyping Console v.4.1
None
Cases
Patient ID
Author, Year
Age
Gender
Primary Diagnosis
Clinical Profile
Cognitive Profile
CNV Start
CNV End
CNV Size
Genome Build
Type Method
Validation
brandler_18_ASD_discovery_cases-caseSSC03013
N/A
M
ASD
Case from SSC_phase1 cohort
153475189
153483471
8283
GRCh38
Deletion
Yes
engchuan_15_ASD_discovery_cases-case5005_3
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
151375736
151505613
129878
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case5369_4
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
151956998
152000504
43507
GRCh38
Deletion
No
gai_11_ASD_replication_cases-AU080003
Autism
151753995
151860636
106642
Unknown
Deletion
No
gai_11_ASD_replication_cases-AU080005
Autism
151753995
151860636
106642
Unknown
Deletion
No
girirajan_13a_ASD_discovery_cases-12750.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
150759398
151069398
310001
GRCh38
Deletion
No
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001743
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
150703713
151282758
579046
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002559
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
149956405
150119840
163436
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_cases-case11407.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
150914194
150929065
14872
GRCh38
Deletion
Yes
krumm_15_ASD_discovery_cases-case11547.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Trio
151282147
151283286
1140
GRCh38
Deletion
Yes
krumm_15_ASD_discovery_cases-case13437.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Trio
151282147
151283288
1142
GRCh38
Deletion
Yes
krumm_15_ASD_discovery_cases-case13503.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
154587511
154590687
3177
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_cases-case14412.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
150761782
151149561
387780
GRCh38
Duplication
Yes
kushima_22_ASD_discovery_cases-caseASD0740
NA
NA
ASD
Diagnosis of ASD according to DSM-5 criteria.
150636501
150926560
290060
GRCh38
Deletion
Yes
levy_11_ASD_discovery_cases-11191.p1
NA
M
ASD
NA
NA
153426594
153524996
98403
GRCh38
Deletion
No
marshall_08_ASD_discovery_cases-SK0012-003
NA
M
ASD
NA
NA
151714243
152102250
388008
GRCh38
Duplication
Yes
pinto_10_ASD_discovery_cases-case5005_3
NA
M
ASD
NA
NA
151375736
151505613
129878
GRCh38
Duplication
Yes
poultney_13_ASD_discovery_cases-case98HI0668A
N/A
M
ASD
ASD case from AGRE (AGRE ID AU023504; NDAR ID N/A)
152960563
152964977
4415
GRCh38
Deletion
No
prasad_12_ASD_discovery_cases-case134846
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
151041795
151051383
9589
Unknown
Deletion
No
prasad_12_ASD_discovery_cases-case48301L
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
152541258
152646277
105020
Unknown
Duplication
No
prasad_12_ASD_discovery_cases-case82503
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
153097058
153139576
42519
Unknown
Deletion
No
sajan_13_ACC/CBLH/PMG_discovery_cases-case1208-0
N/A
N/A
ACC
Diagnosis of agenesis of the corpus callosum (ACC). ASD: no. Seizures: no.
Developmental delay: yes. Intellectual disability: no.
150754667
151133921
379255
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11023.p1
10.4
M
Autism
NA
Full-scale IQ, 111; non-verbal IQ, 110; verbal IQ, 110
152069903
152073038
3136
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11080.p1
5.1
F
ASD
NA
Full-scale IQ, 51; non-verbal IQ, 50; verbal IQ 66
151869282
151871639
2358
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11255.p1
12.7
M
Autism
NA
Full-scale IQ, 117; non-verbal IQ, 108; verbal IQ 130
151869282
151871639
2358
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11258.p1
14.8
M
Autism
NA
Full-scale IQ, 108; non-verbal IQ, 119; verbal IQ, 96
152069903
152073038
3136
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
151869282
151871639
2358
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11347.p1
15.7
M
Autism
NA
Full-scale IQ, 59; non-verbal IQ, 75; verbal IQ, 37
151869428
151870502
1075
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11365.p1
14.7
M
Autism
NA
Full-scale IQ, 62; non-verbal IQ, 63; verbal IQ, 64
152069903
152073038
3136
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11407.p1
11.6
M
Autism
NA
Full-scale IQ, 94; non-verbal IQ, 105; verbal IQ, 77
150919600
150939735
20136
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11532.p1
9.1
M
Autism
NA
Full-scale IQ, 59; non-verbal IQ, 65; verbal IQ, 60
151869282
151871639
2358
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11554.p1
6.5
M
Autism
NA
Full-scale IQ, 105; non-verbal IQ, 104; verbal IQ, 104
152069903
152071589
1687
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11634.p1
5.7
M
Autism
NA
Full-scale IQ, 55; non-verbal IQ, 56; verbal IQ, 63
151869282
151871639
2358
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11700.p1
6.5
M
Autism
NA
Full-scale IQ, 88; non-verbal IQ, 96; verbal IQ, 80
151869282
151871639
2358
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11780.p1
4.3
M
Autism
NA
Full-scale IQ, 117; non-verbal IQ, 112; verbal IQ, 120
151869282
151871639
2358
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11913.p1
4.5
F
Autism
NA
Full-scale IQ, 102; non-verbal IQ, 99; verbal IQ, 105
151869282
151871639
2358
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11942.p1
10.3
M
Autism
NA
Full-scale IQ, 50; non-verbal IQ, 44; verbal IQ, 62
151869282
151871639
2358
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12003.p1
4.3
M
ASD
NA
Full-scale IQ, 115; non-verbal IQ, 120; verbal IQ, 103
151869282
151871639
2358
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12026.p1
6.6
M
Autism
NA
Full-scale IQ, 51; non-verbal IQ, 72; verbal IQ, 36
151869282
151870502
1221
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12052.p1
7.4
M
Autism
NA
Full-scale IQ, 85; non-verbal IQ, 100; verbal IQ, 64
152069903
152071589
1687
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12056.p1
11
M
Autism
NA
Full-scale IQ, 103; non-verbal IQ, 92; verbal IQ, 124
152446105
152491242
45138
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12073.p1
5.9
F
Autism
NA
Full-scale IQ, 110; non-verbal IQ, 111; verbal IQ, 105
151869282
151871639
2358
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12093.p1
6
M
ASD
NA
Full-scale IQ, 113; non-verbal IQ, 120; verbal IQ, 97
152069903
152071589
1687
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12120.p1
5.1
M
Autism
NA
Full-scale IQ, 105; non-verbal IQ, 115; verbal IQ, 85
151869282
151871639
2358
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12139.p1
4.3
M
ASD
NA
Full-scale IQ, 98; non-verbal IQ, 106; verbal IQ, 86
151869282
151870502
1221
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12144.p1
4.9
M
Autism
NA
Full-scale IQ, 86; non-verbal IQ, 93; verbal IQ, 81
151869282
151871639
2358
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12185.p1
7.2
M
Autism
NA
Full-scale IQ, 90; non-verbal IQ, 94; verbal IQ, 86
151869282
151871639
2358
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12189.p1
8.8
M
Autism
NA
Full-scale IQ, 82; non-verbal IQ, 87; verbal IQ, 78
151869282
151871639
2358
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12206.p1
17.1
M
Aspergers
NA
Full-scale IQ, 130; non-verbal IQ, 141; verbal IQ, 113
151869282
151870502
1221
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12360.p1
6.8
M
Autism
NA
Full-scale IQ, 104; non-verbal IQ, 104; verbal IQ, 101
151869282
151870502
1221
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12392.p1
7
M
ASD
NA
Full-scale IQ, 103; non-verbal IQ, 102; verbal IQ, 105
151869282
151870502
1221
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12405.p1
6.3
M
Autism
NA
Full-scale IQ, 101; non-verbal IQ, 102; verbal IQ, 99
151869282
151871639
2358
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12415.p1
12.8
M
Autism
NA
Full-scale IQ, 94; non-verbal IQ, 97; verbal IQ, 89
151869282
151870502
1221
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12429.p1
4.8
M
Autism
NA
Full-scale IQ, 74; non-verbal IQ, 71; verbal IQ, 82
151869282
151871639
2358
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12472.p1
5.6
F
Autism
NA
Full-scale IQ, 106; non-verbal IQ, 101; verbal IQ, 112
151869282
151870502
1221
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12494.p1
7.9
M
Autism
NA
Full-scale IQ, 59; non-verbal IQ, 67; verbal IQ, 56
151869282
151870502
1221
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12606.p1
11.8
M
Autism
NA
Full-scale IQ, 59; non-verbal IQ, 59; verbal IQ, 62
151869282
151870502
1221
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12653.p1
11
M
Autism
NA
Full-scale IQ, 77; non-verbal IQ, 69; verbal IQ, 97
151869282
151871639
2358
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12790.p1
7.9
M
Autism
NA
Full-scale IQ, 31; non-verbal IQ, 44; verbal IQ, 18
151869282
151871639
2358
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12798.p1
4.8
M
Autism
NA
Full-scale IQ, 67; non-verbal IQ, 73; verbal IQ, 65
151869282
151871639
2358
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-13048.p1
12.9
F
Autism
NA
Full-scale IQ, 35; non-verbal IQ, 40; verbal IQ, 26
151869282
151870502
1221
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-13080.p1
8.3
F
Autism
NA
Full-scale IQ, 111; non-verbal IQ, 104; verbal IQ, 121
151869282
151871639
2358
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-13088.p1
6
M
Autism
NA
Full-scale IQ, 79; non-verbal IQ, 91; verbal IQ, 67
151869282
151870502
1221
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-13146.p1
10.4
M
Autism
NA
Full-scale IQ, 106; non-verbal IQ, 107; verbal IQ, 104
149953678
150034348
80671
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-13162.p1
9.8
M
Autism
NA
Full-scale IQ, 74; non-verbal IQ, 78; verbal IQ, 72
151869282
151870502
1221
GRCh38
Deletion
No
viggiano_24_ASD_discovery_cases-case11.3
M
ASD
Case diagnosed with ASD according to DSM-5 criteria and assessed using ADOS-2 and CARS-2. Family history: duplication also present in an unaffected brother.
150267053
150327676
60624
GRCh38
Duplication
Yes
yin_16_ASD_discovery_cases-case211
N/A
N/A
ASD
Cases diagnosed with autistic disorder according to DSM-IV and confirmed by using the Chinese version of ADI-R.
150252911
150262707
9797
GRCh38
Duplication
No
Controls
Patient ID
Author, Year
Age
Gender
Primary Diagnosis
Clinical Profile
Cognitive Profile
CNV Start
CNV End
CNV Size
Genome Build
Type Method
Validation
engchuan_15_ASD_discovery_controls-controlB228008_1007874610
N/A
N/A
Control
No previous psychiatric history
150746994
151149128
402135
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlB505135_1007854094
N/A
N/A
Control
No previous psychiatric history
152747330
152793005
45676
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlB774741_1007854360
N/A
N/A
Control
No previous psychiatric history
150738300
151149128
410829
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlHABC_901235_901235
N/A
N/A
Control
No previous psychiatric history
153371164
153404053
32890
GRCh38
Deletion
No
kanduri_15_ASD_discovery_controls-control_split241
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
151880765
151883290
2526
Unknown
Deletion
No
krumm_13_ASD_discovery_controls-control11959.s1
N/A
F
Control
Unaffected sibling from SSC quad family 11959. SRS score of 44.
150806270
151149561
343292
GRCh38
Duplication
No (not tested)
krumm_15_ASD_discovery_controls-control11959.s1
N/A
Female
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
150817123
151149561
332439
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_controls-control12784.s1
N/A
Male
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
154584123
154589562
5440
GRCh38
Deletion
Yes
krumm_15_ASD_discovery_controls-control13503.s1
N/A
Male
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
154587511
154604354
16844
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_controls-control14412.s1
N/A
Female
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
150761782
151149561
387780
GRCh38
Duplication
Yes
levy_11_ASD_discovery_controls-11959.s1
NA
F
Control
NA
NA
150746251
151150704
404454
GRCh38
Duplication
No
poultney_13_ASD_discovery_controls-control04C31229A
N/A
F
Control
NIMH Control (NIMH ID 22048)
153712475
153720304
7830
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11067.s1
16.7
F
Control (matched sibling)
NA
NA
152069903
152071589
1687
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11290.s1
13.4
F
Control (matched sibling)
NA
NA
151869282
151870502
1221
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11412.s1
10.5
F
Control (matched sibling)
NA
NA
152069903
152071589
1687
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11480.s1
13.8
F
Control (matched sibling)
NA
NA
151869282
151871639
2358
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11575.s1
15.1
F
Control (matched sibling)
NA
NA
152069903
152071589
1687
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11587.s1
10.3
F
Control (matched sibling)
NA
NA
152069903
152071589
1687
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11712.s1
8.6
F
Control (matched sibling)
NA
NA
151869282
151871639
2358
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11712.s1
8.6
F
Control (matched sibling)
NA
NA
152069903
152073038
3136
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11722.s1
9.8
M
Control (matched sibling)
NA
NA
151869282
151870502
1221
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11753.s1
15.1
F
Control (matched sibling)
NA
NA
151869282
151871639
2358
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11775.s1
12.7
F
Control (matched sibling)
NA
NA
151869282
151870502
1221
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11828.s1
5.5
F
Control (matched sibling)
NA
NA
151869282
151871639
2358
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11888.s1
9.6
M
Control (matched sibling)
NA
NA
150292853
150295718
2866
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11913.s1
5.9
F
Control (matched sibling)
NA
NA
151869282
151871639
2358
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11959.s1
9.7
F
Control (matched sibling)
NA
NA
150746994
151145754
398761
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-12048.s1
10.3
F
Control (matched sibling)
NA
NA
151869282
151871639
2358
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12078.s1
5.8
F
Control (matched sibling)
NA
NA
151869282
151871639
2358
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12120.s1
7.8
F
Control (matched sibling)
NA
NA
151869282
151871639
2358
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12360.s1
7.9
F
Control (matched sibling)
NA
NA
151869282
151870502
1221
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12363.s1
21.9
M
Control (matched sibling)
NA
NA
151869282
151870502
1221
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12457.s1
5.6
M
Control (matched sibling)
NA
NA
151869282
151870502
1221
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12507.s1
26.1
F
Control (matched sibling)
NA
NA
151869282
151871639
2358
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12618.s1
6.8
M
Control (matched sibling)
NA
NA
151869282
151871639
2358
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12637.s1
5
M
Control (matched sibling)
NA
NA
151869282
151870502
1221
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12798.s1
8.1
F
Control (matched sibling)
NA
NA
151869282
151871639
2358
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12879.s1
6.3
M
Control (matched sibling)
NA
NA
151869282
151870502
1221
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12921.s1
6.5
F
Control (matched sibling)
NA
NA
151869282
151871639
2358
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-13018.s1
7.9
M
Control (matched sibling)
NA
NA
151869282
151870502
1221
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-13035.s1
12.8
F
Control (matched sibling)
NA
NA
151869282
151871639
2358
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-13162.s1
6.7
F
Control (matched sibling)
NA
NA
151869282
151870502
1221
GRCh38
Deletion
No
Cases
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
brandler_18_ASD_discovery_cases-caseSSC03013
PCR or SNP data validation
Maternal
TMEM131L
engchuan_15_ASD_discovery_cases-case5005_3
Unknown
FAM160A1-DT,FAM160A1
engchuan_15_ASD_discovery_cases-case5369_4
Unknown
RNA5SP169
gai_11_ASD_replication_cases-AU080003
Inherited
LRBA
gai_11_ASD_replication_cases-AU080005
Inherited
LRBA
girirajan_13a_ASD_discovery_cases-12750.p1
Unknown
Simplex
Unknown
RNA5SP168,AK4P6,LRBA
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001743
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Maternal
Unknown
Unknown
ZBTB8OSP1,RNA5SP168,AK4P6,RPS3A,SNORD73B,SNORD73A,PRSS48,SH3D19,LRBA
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002559
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
DCLK2
krumm_15_ASD_discovery_cases-case11407.p1
Illumina 1MDuo
Paternal
Simplex
Segregated
LRBA
krumm_15_ASD_discovery_cases-case11547.p1
Illumina 1M
Paternal
Simplex
Segregated
PRSS48,SH3D19
krumm_15_ASD_discovery_cases-case13437.p1
1M-Duov3
Paternal
Simplex
Segregated
PRSS48,SH3D19
krumm_15_ASD_discovery_cases-case13503.p1
1M-Duov3
Maternal
Simplex
Not segregated (CNV in unaffected sibling)
FGA
krumm_15_ASD_discovery_cases-case14412.p1
Omni2.5-4v1
Maternal
Simplex
Not segregated (CNV in unaffected sibling)
RNA5SP168,AK4P6,RPS3A,SNORD73B,SNORD73A,SH3D19,LRBA
kushima_22_ASD_discovery_cases-caseASD0740
qRT-PCR
Unknown
LRBA,ZBTB8OSP1
levy_11_ASD_discovery_cases-11191.p1
Paternal
Simplex
Segregated
TMEM131L
marshall_08_ASD_discovery_cases-SK0012-003
qPCR, qmPCR
Unknown
NA
NA
RNA5SP169,LINC02273,GATB
pinto_10_ASD_discovery_cases-case5005_3
Agilent1M
paternal
NA
NA
FAM160A1-DT,FAM160A1
poultney_13_ASD_discovery_cases-case98HI0668A
Unknown
Unknown (likely multiplex/AGRE)
Unknown
FHDC1
prasad_12_ASD_discovery_cases-case134846
Unknown
Unknown
Unknown
0 genes
prasad_12_ASD_discovery_cases-case48301L
Unknown
Unknown
Unknown
FAM160A1
prasad_12_ASD_discovery_cases-case82503
Unknown
Unknown
Unknown
0 genes
sajan_13_ACC/CBLH/PMG_discovery_cases-case1208-0
Not tested by qPCR
Unknown
Unknown
Unknown
RNA5SP168,AK4P6,RPS3A,SNORD73B,SNORD73A,SH3D19,LRBA
sanders_11_ASD_discovery_cases-11023.p1
Paternal
Simplex (quad-proband matched)
Segregated
sanders_11_ASD_discovery_cases-11080.p1
Maternal
Simplex (trio)
NA
sanders_11_ASD_discovery_cases-11255.p1
Paternal
Simplex (trio)
NA
sanders_11_ASD_discovery_cases-11258.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11294.p1
Maternal
Simplex (trio)
NA
sanders_11_ASD_discovery_cases-11347.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11365.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11407.p1
Paternal
Simplex (quad-proband matched)
Not segregated
LRBA
sanders_11_ASD_discovery_cases-11532.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11554.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11634.p1
Both parents
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11700.p1
Both parents
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11780.p1
Maternal
Simplex (trio)
NA
sanders_11_ASD_discovery_cases-11913.p1
Both parents
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11942.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12003.p1
Maternal
Simplex (trio)
NA
sanders_11_ASD_discovery_cases-12026.p1
Maternal
Simplex (trio)
NA
sanders_11_ASD_discovery_cases-12052.p1
Unknown
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12056.p1
Paternal
Simplex (quad-proband matched)
Not segregated
MIR3140,FBXW7
sanders_11_ASD_discovery_cases-12073.p1
Both parents
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12093.p1
Paternal
Simplex (trio)
NA
sanders_11_ASD_discovery_cases-12120.p1
Both parents
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12139.p1
Paternal
Simplex (trio)
NA
sanders_11_ASD_discovery_cases-12144.p1
Maternal
Simplex (trio)
NA
sanders_11_ASD_discovery_cases-12185.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12189.p1
Unknown
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12206.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12360.p1
Both parents
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12392.p1
Both parents
Simplex (trio)
NA
sanders_11_ASD_discovery_cases-12405.p1
Paternal
Simplex (trio)
NA
sanders_11_ASD_discovery_cases-12415.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12429.p1
Maternal
Simplex (trio)
NA
sanders_11_ASD_discovery_cases-12472.p1
Paternal
Simplex (trio)
NA
sanders_11_ASD_discovery_cases-12494.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12606.p1
Maternal
Simplex (trio)
NA
sanders_11_ASD_discovery_cases-12653.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12790.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12798.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-13048.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-13080.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-13088.p1
Both parents
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-13146.p1
Paternal
Simplex (quad-proband unmatched)
Unknown
sanders_11_ASD_discovery_cases-13162.p1
Maternal
Simplex (quad-proband matched)
Not segregated
viggiano_24_ASD_discovery_cases-case11.3
Array SNP or WGS
Maternal
Simplex
Not segregated
LRBA
yin_16_ASD_discovery_cases-case211
Unknown
Unknown
Unknown
DCLK2
Controls
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
engchuan_15_ASD_discovery_controls-controlB228008_1007874610
Unknown
RNA5SP168,AK4P6,RPS3A,SNORD73B,SNORD73A,SH3D19,LRBA
engchuan_15_ASD_discovery_controls-controlB505135_1007854094
Unknown
TIGD4,ARFIP1
engchuan_15_ASD_discovery_controls-controlB774741_1007854360
Unknown
RNA5SP168,AK4P6,RPS3A,SNORD73B,SNORD73A,SH3D19,LRBA
engchuan_15_ASD_discovery_controls-controlHABC_901235_901235
Unknown
RN7SL419P,MND1
kanduri_15_ASD_discovery_controls-control_split241
Unknown
LRBA (intronic)
krumm_13_ASD_discovery_controls-control11959.s1
Paternal
Simplex
RNA5SP168,AK4P6,RPS3A,SNORD73B,SNORD73A,SH3D19,LRBA
krumm_15_ASD_discovery_controls-control11959.s1
Illumina 1MDuo
Paternal
RNA5SP168,AK4P6,RPS3A,SNORD73B,SNORD73A,SH3D19,LRBA
krumm_15_ASD_discovery_controls-control12784.s1
Illumina 1MDuo
Paternal
FGA
krumm_15_ASD_discovery_controls-control13503.s1
1M-Duov3
Maternal
FGA,FGG
krumm_15_ASD_discovery_controls-control14412.s1
Omni2.5-4v1
Maternal
RNA5SP168,AK4P6,RPS3A,SNORD73B,SNORD73A,SH3D19,LRBA
levy_11_ASD_discovery_controls-11959.s1
Paternal
Simplex
NA
RNA5SP168,AK4P6,RPS3A,SNORD73B,SNORD73A,SH3D19,LRBA
poultney_13_ASD_discovery_controls-control04C31229A
Unknown
RNF175
sanders_11_ASD_discovery_controls-11067.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11290.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11412.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11480.s1
Both parents
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11575.s1
Both parents
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11587.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11712.s1
Both parents
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11712.s1
Unknown
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11722.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11753.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11775.s1
Both parents
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11828.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11888.s1
Paternal
Simplex (quad)
NA
LRBA
sanders_11_ASD_discovery_controls-11913.s1
Both parents
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11959.s1
Paternal
Simplex (quad)
NA
RNA5SP168,AK4P6,RPS3A,SNORD73B,SNORD73A,SH3D19,LRBA
sanders_11_ASD_discovery_controls-12048.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12078.s1
Both parents
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12120.s1
Both parents
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12360.s1
Both parents
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12363.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12457.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12507.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12618.s1
Both parents
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12637.s1
Both parents
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12798.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12879.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12921.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-13018.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-13035.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-13162.s1
Maternal
Simplex (quad)
NA
No Animal Model Data Available