9p21.3CNV Type: Deletion-Duplication
Largest CNV size: 163846 bp
Statistics Box:
Number of Reports: 16
Number of Reports: 16
Summary Information
Summary statement in development
Additional Locus Information
References
Major Reports
Title
Author, Year
Report Class
CNV Type
Structural variation of chromosomes in autism spectrum disorder.
Deletion
Functional impact of global rare copy number variation in autism spectrum disorders.
Deletion
An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabili...
Deletion-Duplication
High resolution analysis of rare copy number variants in patients with autism spectrum disorder from Taiwan.
Duplication
Cross-Disorder Analysis of Genic and Regulatory Copy Number Variations in Bipolar Disorder
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 deletions at the neurexin 3 locus in autism spectrum disorder.
Deletion
A discovery resource of rare copy number variations in individuals with autism spectrum disorder.
Deletion-Duplication
Both rare and de novo copy number variants are prevalent in agenesis of the corpus callosum but not in cerebellar hypoplasia or polymicrogyria.
Deletion
Performance of case-control rare copy number variation annotation in classification of autism.
Deletion-Duplication
The landscape of copy number variations in Finnish families with autism spectrum disorders.
Deletion
Genome-wide analysis of copy number variations identifies PARK2 as a candidate gene for autism spectrum disorder.
Duplication
Comparative Analyses of Copy-Number Variation in Autism Spectrum Disorder and Schizophrenia Reveal Etiological Overlap and Biological Insights.
Duplication
De Novo Sequence and Copy Number Variants Are Strongly Associated with Tourette Disorder and Implicate Cell Polarity in Pathogenesis.
Deletion
Cases
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
chen_17_ASD_discovery_cases
Patients recruited from the Children's Mental Health Center, National Taiwan University Hospital, Taipei, Taiwan and Department of Psychiatry, Chang-Gung Memorial Hospital, Kuei-Shan, Taiwan.
335
All cases met the clinical diagnosis of autistic disorder as defined by DSM-IV; diagnosis was confirmed by interviewing parents using the Chinese version of ADI-R, and all cases received further clincial evaluation according to DSM-5 diagnostic criteria for ASD. Intelligence was measured using the Wechsler Primary and Preschool Scale of Intelligence-Revised (WPPSI-R), the Wechsler Intelligence Scale for Children-3rd Edition (WISC-III), or the Wechsler Adult Intelligence Scale (WAIS). Autistic-like social deficits were assessed using the Social Responsiveness Scale (SRS); symptoms of inattention, hyperactivity, and oppositional behavior were assessed using the Swanson, Nolan and Pelham Quest
Mean age, 9.4 4.0 years
89.25% Male
798000
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
236598
19
2
21
gai_11_ASD_discovery_cases
Discovery case samples derived from AGRE set 4 (most recent patient recruitment)
631
Idiopathic autism; cases designated as 'spectrum' and 'not quite autism' excluded, as were cases with known genetic syndromes or other non-idiopathic causes
153887
2
0
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
37422
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
2757057
3
1
4
kanduri_15_ASD_discovery_cases
Autistic cases from an initial sample of 83 Finnish families comprising 257 family members following quality control
80
Diagnosis of ASD based on DSM-IV, 4th edition, or ICD-10 criteria; patients screened based on Childhood Autism Rating Scale (CARS), Asperger Syndrome Screening Questionnaire, and Asperger's Syndrome Diagnostic Interview.
N/A
N/A
12860
1
0
1
kushima_18_SCZ_discovery_cases
Individuals predominantly recruited from the middle of Honshu Island (Japan)
2458
Cases were diagnosed with schizophrenia (SCZ) according to DSM-5 criteria.
Median age, 44 years
55.0% Male
3925264
0
1
1
kushima_22_SCZ_discovery_cases
Japanese schizophrenia probands evaluated for copy number variation from an initial cohort of 3,111 probands before quality control.
3014
Cases diagnosed with schizophrenia (SCZ) according to DSM-5 criteria.
Median age, 45 yrs.
53.5% Male
3925265
0
1
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
121174
2
0
2
mohamed_21_DD/ID_discovery_cases
Individuals referred to the National Research Centre (Cairo, Egypt) with chromsome 9p terminal deletions (initially identified by karyotyping) who had additional aCGH evaluation to identify the precise extent of the deletion.
6
All individuals presented with developmental delay and intellectual disability; four individuals also presented with autistic behavior.
Range, 5 mos.-9 yrs.
33.33% Male
1117348
1
0
1
pinto_10_ASD_discovery_cases
Autism Genome Project (AGP) consortium patient cohort from families with at least two ASD individuals
996
ASD (ADI-R and ADOS): strict, broad, or spectrum ASD
163846
3
0
3
prasad_12_ASD_discovery_cases
Unrelated ASD cases recruited from three Canadian sites (Hospital for Sick Children, McMaster University, and Memorial University of Newfoundland); the majority of cases had been previously genotyped with results published in Marshall et al., 2008 and Pinto et al., 2010. 20 cases from initial cohort of 696 were excluded from further analysis (due to CNVs > 5 Mb).
676
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS
NA
82.84% Male
110477
4
3
7
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
45451
1
0
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
90127
117
9
126
vaags_11_ASD_discovery_cases
Discovery cohort of Canadian individuals with ASD
1158
ASD
NA
NA
20003
1
0
1
wang_10_ASD_discovery_cases
ASD patients recruited from Centers for Autism in Zagreb, Rijeka, and Split (Croatia)
103
ASD (according to DSM-IV criteria)
Mean, 21.5 10.3
78.6% Male
602000
0
0
0
wang_18_TS_replication_cases
Probands from 120 trio families not previously screened by whole-exome sequencing in the discovery cohort
120
Probands diagnosed with Tourette syndrome
N/A
N/A
91390
1
0
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
798331
0
1
1
Controls
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
chen_17_ASD_discovery_controls1
Control subjects chosen from the Han Chinese Cell and Genome Bank (HCCGB) in Taiwan
1093
Subjects received physical check-up and questionnaire screening to ensure that they did not have any abnormal physical condition and mental illness
Mean age, 68.1 10.1 years
48.03% Male
0
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
417992
22
6
28
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
110685
1
0
1
kushima_18_ASD/SCZ_discovery_controls
Individuals selected from the general population and predominantly recruited from the middle of Honshu Island (Japan)
2095
Controls had no history of mental disorders based upon responses to questionnaires or self-reporting.
Median age, 37 years
52.0% Male
0
0
0
0
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
115886
2
0
2
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)
504167
0
1
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)
110477
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.
193365
83
2
85
wang_10_ASD_discovery_controls
Healthy blood donors with no history of mental illness, behavioral disorders, or substance abuse
203
Controls
Mean, 32.5 8.06
71.9% Male
602000
0
1
1
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
798331
0
0
0
Cases
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
chen_17_ASD_discovery_cases
Han Chinese
Array SNP
Affymetrix 6.0
Affymetrix Genotyping Console v.4.1
RT-qPCR
engchuan_15_ASD_discovery_cases
Caucasian
Solid phase hybridization
Illumina 1M
None
gai_11_ASD_discovery_cases
European
Solid phase hybridization
Illumina Infinium II HumanHap550 BeadChip
BeadStudio 3.0
None
gai_11_ASD_replication_cases
European
Solid phase hybridization
Illumina Infinium II HumanHap550 BeadChip
BeadStudio 3.0
None
kaminsky_11_DD/ID/ASD_discovery_cases
NA
aCGH
Agilent 44K, Agilent 105K
Feature Extraction, DNA Analytics
FISH, qPCR, MLPA, aCGH, standard G-banded chromosome analysis
kanduri_15_ASD_discovery_cases
Finnish
Solid phase hybridization
Illumina Human OmniExpress-12v1.0 BeadChip
QuantiSNP, PennCNV
Illumina BeadStudio
None
kushima_18_SCZ_discovery_cases
Japanese
aCGH
NimbleGen 720K, Agilent 400K
FASST2
Nexus Copy Number v.9.0
N/A
kushima_22_SCZ_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
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
mohamed_21_DD/ID_discovery_cases
Egypt
Array SNP
Affymetrix CytoScan 750K, Affymetrix CytoScan HD
NA
Affymetrix ChAS
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)
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
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
wang_10_ASD_discovery_cases
Croatian
Solid phase hybridization
Illumina HumanHap550 BeadChip
PennCNV
BeadStudio
None
wang_18_TS_replication_cases
N/A
Exome Array
Illumina HumanOmniExpressExome-8 v.1
PennCNV
Illumina GenomeStudio, PennCNV
None
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
chen_17_ASD_discovery_controls1
Han Chinese
Array SNP
Affymetrix 6.0
Affymetrix Genotyping Console v.4.1
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
kushima_18_ASD/SCZ_discovery_controls
Japanese
aCGH
NimbleGen 720K, Agilent 400K
FASST2
Nexus Copy Number v.9.0
N/A
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
qPCR
wang_10_ASD_discovery_controls
Croatian
Solid phase hybridization
Illumina HumanHap550 BeadChip
PennCNV
BeadStudio
None
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
chen_17_ASD_discovery_cases-caseU-1511
N/A
M
ASD
Case met the clinical diagnosis of autistic disorder as defined by DSM-IV, which was confirmed by interviewing parents using the Chinese version of ADI-R; case also received further clincial evaluation according to DSM-5 diagnostic criteria for ASD. ADI-R evaluation results: Qualitative abnormalities in reciprocal social interaction, current score 27 (past score 29); Qualitative abnormalities in verbal and nonverbal communication, current score n/a (past score n/a); Qualitative abnormalities in nonverbal communication, current score 12 (past score 14); Restricted, repetitive, and stereotyped patterns of behaviour, current score 6 (past score 6); Abnormality of development evident at or before 36 months, past score 5. Behavioral/psychiatric evaluation: Social Responsiveness Scale (SRS) score 89; Swanson, Nolan and Pelham Questionnaire (SNAP-IV) score 43. Epilepsy: no history of epilepsy.
Performance IQ n/a, Verbal IQ n/a, Full-scale IQ n/a
22190563
22988893
798331
GRCh38
Duplication
Yes
engchuan_15_ASD_discovery_cases-case1165_3
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
23103267
23267113
163847
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case13047_563
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
24662560
24715100
52541
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case13055_653
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
22366890
22502852
135963
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case14089_1530
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
22496641
22733239
236599
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case14161_2640
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
25263762
25359871
96110
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case14162_2660
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
25263762
25352329
88568
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case14173_2800
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
25263762
25352329
88568
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case14174_2810
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
25237817
25353889
116073
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case14191_3150
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
20016260
20064976
48717
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case14242_3660
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
25256656
25352329
95674
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case14310_4270
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
25263762
25352329
88568
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case14342_4560
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
22894795
23031512
136718
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case14395_5040
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
25263762
25352329
88568
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case2257_1
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
22508808
22564669
55862
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case3210_4
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
23083300
23178738
95439
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case4238_1
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
24457293
24515113
57821
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case4393_1
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
24645078
24826158
181081
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case5132_3
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
25263762
25352329
88568
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case5330_3
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
25271478
25316442
44965
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case5415_3
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
24440665
24515113
74449
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case5515_3
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
25263762
25352329
88568
GRCh38
Deletion
No
gai_11_ASD_discovery_cases-AU1031302
Autism
24868417
25022303
153887
Unknown
Deletion
No
gai_11_ASD_discovery_cases-AU1031303
Autism
24868417
25022303
153887
Unknown
Deletion
No
gai_11_ASD_replication_cases-AU082804
Autism
20658315
20695736
37422
Unknown
Deletion
No
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001012
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
21708372
22537070
828699
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001933
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
20380587
20478578
97992
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002397
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
21985058
22809677
824620
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005016
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
21082471
23839529
2757059
GRCh38
Deletion
Yes
kanduri_15_ASD_discovery_cases-case1518
N/A
N/A
ASD
Diagnosis of ASD based on DSM-IV, 4th edition, or ICD-10 criteria; patient screened based on Childhood Autism Rating Scale (CARS), Asperger Syndrome Screening Questionnaire, and/or Asperger's Syndrome Diagnostic Interview.
24133577
24146436
12860
Unknown
Deletion
No
kushima_18_SCZ_discovery_cases-caseSCZ1956
12 yrs.
F
Schizophrenia
No additional clinical information reported for this individual. Family history: unknown.
20655425
24580688
3925264
GRCh38
Duplication
N/A
kushima_22_SCZ_discovery_cases-caseSCZ1956
NA
NA
Schizophrenia
Diagnosis of schizophrenia according to DSM-5 criteria.
20655424
24580688
3925265
GRCh38
Duplication
Yes
marshall_08_ASD_discovery_cases-SK0148-005
NA
F
ASD
NA
NA
24617038
24692116
75079
GRCh38
Deletion
Yes
marshall_08_ASD_discovery_cases-SK0278-003
NA
M
ASD
NA
NA
22636542
22757715
121174
GRCh38
Deletion
Yes
mohamed_21_DD/ID_discovery_cases-case1
5 mos.
M
Developmental delay, intellectual disability, and autistic behavior
Developmental milestones: developmental delay (DQ 48%). Motor and musculoskeletal evaluation: global hypotonia, long tapering fingers/toes, clinodactyly, narrow flat feet, talipes. Behavioral/psychiatric evaluation: autistic behavior. Brain imaging: hypoplasia on the corpus callosum. Additional medical history: patent ductus arteriosus, inguinal hernia, constipation, frequent infections. Dysmorphic features: trigonocephaly/prominent metopic suture, flat occiput, upslanting palpebral fissures, arched/bushy eyebrows, hypertelorism, epicanthus, midface hypoplasia, flat nasal bridge, anteverted nares, long flat philtrum, low-set and posteriorly rotated ears, micrognathia, microstomia, short neck, widely spaced nipples, fair hair. Growth parameters: weight mean, height -0.5 SD, head circumference -0.5 SD.
Intellectual disability
23480774
24598121
1117348
GRCh38
Deletion
No
pinto_10_ASD_discovery_cases-case1165_3
NA
M
Autism
Non verbal, poor suck at birth, floppy infant, gastrointestinal problems
MR
23103267
23267113
163847
GRCh38
Deletion
Yes
pinto_10_ASD_discovery_cases-case5132_3
NA
M
ASD
NA
NA
25263762
25352329
88568
GRCh38
Deletion
Yes
pinto_10_ASD_discovery_cases-case5515_3
NA
M
ASD
NA
NA
25263762
25352329
88568
GRCh38
Deletion
Yes
prasad_12_ASD_discovery_cases-case100678L
NA
F
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
24619968
24684952
64985
Unknown
Deletion
No
prasad_12_ASD_discovery_cases-case125391
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
21244959
21274220
29262
Unknown
Duplication
No
prasad_12_ASD_discovery_cases-case144127
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
21422679
21434988
12310
Unknown
Deletion
No
prasad_12_ASD_discovery_cases-case55360
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
21250172
21268145
17974
Unknown
Duplication
No
prasad_12_ASD_discovery_cases-case69354
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
21250172
21268145
17974
Unknown
Duplication
No
prasad_12_ASD_discovery_cases-case74431
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
22638251
22748727
110477
Unknown
Deletion
No
prasad_12_ASD_discovery_cases-case88253
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
20743827
20756903
13077
Unknown
Deletion
No
sajan_13_ACC/CBLH/PMG_discovery_cases-caseLR01-282
N/A
N/A
ACC-PMG
Diagnosis of agenesis of the corpus callosum (ACC) and polymicrogyria (PMG). ASD: N/A. Seizures: N/A.
Developmental delay: yes. Intellectual disability: N/A.
20604462
20649912
45451
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11004.p1
15.8
M
ASD
NA
Full-scale IQ, 59; non-verbal IQ, 74; verbal IQ, 31
24502739
24515113
12375
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11011.p1
8.3
M
Autism
NA
Full-scale IQ, 78; non-verbal IQ, 88; verbal IQ, 69
24502739
24515113
12375
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11013.p1
10
M
Autism
NA
Full-scale IQ, 132; non-verbal IQ, 137; verbal IQ, 119
24502739
24515113
12375
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11023.p1
10.4
M
Autism
NA
Full-scale IQ, 111; non-verbal IQ, 110; verbal IQ, 110
24502739
24515113
12375
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11048.p1
6.5
M
Autism
NA
Full-scale IQ, 66; non-verbal IQ, 75; verbal IQ, 58
24502739
24515113
12375
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11057.p1
8.7
M
Autism
NA
Full-scale IQ, 89; non-verbal IQ, 89; verbal IQ, 95
24502739
24515113
12375
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11060.p1
6.4
M
Autism
NA
Full-scale IQ, 100; non-verbal IQ, 104; verbal IQ 93
24502739
24515113
12375
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11069.p1
9.5
M
Autism
NA
Full-scale IQ, 77; non-verbal IQ, 96; verbal IQ, 83
24502739
24515113
12375
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11077.p1
12.2
M
Autism
NA
Full-scale IQ, 33; non-verbal IQ, 36; verbal IQ, 26
24502739
24515113
12375
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11083.p1
8.8
M
Autism
NA
Full-scale IQ, 122; non-verbal IQ, 119; verbal IQ, 122
25336449
25367088
30640
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11094.p1
6.5
M
Autism
NA
Full-scale IQ, 87; non-verbal IQ, 105; verbal IQ, 86
24502739
24515113
12375
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11114.p1
8.8
F
Autism
NA
Full-scale IQ, 40; non-verbal IQ, 45; verbal IQ, 30
24502739
24515113
12375
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11120.p1
15.9
M
Autism
NA
Full-scale IQ, 114; non-verbal IQ, 104; verbal IQ, 128
24502739
24515113
12375
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11165.p1
5.2
M
Autism
NA
Full-scale IQ, 104; non-verbal IQ, 112; verbal IQ 89
22822674
22847962
25289
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11172.p1
15.9
M
Autism
NA
Full-scale IQ, 63; non-verbal IQ, 60; verbal IQ, 70
24502739
24515113
12375
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11202.p1
11.8
M
Autism
NA
Full-scale IQ, 81; non-verbal IQ, 85; verbal IQ 71
23291528
23299211
7684
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11216.p1
4.7
M
ASD
NA
Full-scale IQ, 77; non-verbal IQ, 97; verbal IQ, 57
25285613
25296603
10991
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11232.p1
8.7
M
ASD
NA
Full-scale IQ, 74; non-verbal IQ, 68; verbal IQ 91
24502739
24515113
12375
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
24502739
24515113
12375
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11276.p1
7.7
M
Autism
NA
Full-scale IQ, 63; non-verbal IQ, 81; verbal IQ 59
24502739
24515113
12375
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11301.p1
9.8
M
Autism
NA
Full-scale IQ, 101; non-verbal IQ, 104; verbal IQ, 96
24502739
24515113
12375
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11303.p1
5.8
M
Autism
NA
Full-scale IQ, 108; non-verbal IQ, 110; verbal IQ, 102
24502739
24520635
17897
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11330.p1
10.5
M
Autism
NA
Full-scale IQ, 85; non-verbal IQ, 94; verbal IQ, 80
25263762
25353889
90128
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11334.p1
14.6
M
Autism
NA
Full-scale IQ, 121; non-verbal IQ, 129; verbal IQ, 102
24502739
24520196
17458
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11360.p1
10.9
M
Autism
NA
Full-scale IQ, 104; non-verbal IQ, 108; verbal IQ, 97
24502739
24515113
12375
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11363.p1
5.9
F
Autism
NA
Full-scale IQ, 72; non-verbal IQ, 78; verbal IQ 77
24502739
24515113
12375
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11370.p1
14.6
M
Autism
NA
Full-scale IQ, 100; non-verbal IQ, 110; verbal IQ 102
24502739
24515113
12375
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11415.p1
11.6
M
ASD
NA
Full-scale IQ, 80; non-verbal IQ, 86; verbal IQ, 76
24502739
24515113
12375
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11429.p1
11.3
M
Autism
NA
Full-scale IQ, 99; non-verbal IQ, 97; verbal IQ, 102
24502739
24515113
12375
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11432.p1
6.5
M
Autism
NA
Full-scale IQ, 117; non-verbal IQ, 117; verbal IQ, 111
24502739
24515113
12375
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11439.p1
6.8
M
Autism
NA
Full-scale IQ, 98; non-verbal IQ, 94; verbal IQ, 108
24502739
24515113
12375
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11464.p1
4.5
M
Autism
NA
Full-scale IQ, 92; non-verbal IQ, 103; verbal IQ, 78
24502739
24515113
12375
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11468.p1
10.7
M
Aspergers
NA
Full-scale IQ, 89; non-verbal IQ, 92; verbal IQ, 87
24502739
24515113
12375
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11472.p1
13.7
F
Autism
NA
Full-scale IQ, 30; non-verbal IQ, 30; verbal IQ, 31
24502739
24515113
12375
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11489.p1
10.8
M
Autism
NA
Full-scale IQ, 102; non-verbal IQ, 108; verbal IQ, 104
24502739
24515113
12375
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11505.p1
6.3
M
Autism
NA
Full-scale IQ, 76; non-verbal IQ, 85; verbal IQ, 67
21194380
21205371
10992
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11516.p1
12.8
M
Aspergers
NA
Full-scale IQ, 111; non-verbal IQ, 112; verbal IQ, 107
24502739
24515113
12375
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11571.p1
9.4
M
Autism
NA
Full-scale IQ, 100; non-verbal IQ, 94; verbal IQ, 111
24502739
24515113
12375
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11573.p1
8.6
M
ASD
NA
Full-scale IQ, 68; non-verbal IQ, 85; verbal IQ, 51
21194380
21226833
32454
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11611.p1
10.3
F
Autism
NA
Full-scale IQ, 32; non-verbal IQ, 34; verbal IQ, 27
24797364
24805163
7800
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11622.p1
9.3
M
Autism
NA
Full-scale IQ, 97; non-verbal IQ, 92; verbal IQ, 106
24502739
24515113
12375
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11622.p1
9.3
M
Autism
NA
Full-scale IQ, 97; non-verbal IQ, 92; verbal IQ, 106
20194149
20282324
88176
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11625.p1
11.6
M
Autism
NA
Full-scale IQ, 34; non-verbal IQ, 44; verbal IQ, 14
24502739
24515113
12375
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11642.p1
5.3
M
ASD
NA
Full-scale IQ, 77; non-verbal IQ, 71; verbal IQ, 88
24502739
24515113
12375
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11654.p1
8
F
Autism
NA
Full-scale IQ, 40; non-verbal IQ, 41; verbal IQ, 47
24502739
24515113
12375
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11666.p1
7.7
M
Autism
NA
Full-scale IQ, 49; non-verbal IQ, 51; verbal IQ, 51
24511920
24515113
3194
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11681.p1
5.1
M
Autism
NA
Full-scale IQ, 81; non-verbal IQ, 84; verbal IQ, 85
24502739
24515113
12375
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11694.p1
8.8
M
Autism
NA
Full-scale IQ, 99; non-verbal IQ, 89; verbal IQ, 116
24502739
24515113
12375
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11696.p1
13.6
M
Autism
NA
Full-scale IQ, 95; non-verbal IQ, 94; verbal IQ, 98
24502739
24515113
12375
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11776.p1
6.1
M
Autism
NA
Full-scale IQ, 56; non-verbal IQ, 51; verbal IQ, 76
24502739
24515113
12375
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11782.p1
5.3
F
Autism
NA
Full-scale IQ, 57; non-verbal IQ, 59; verbal IQ, 64
24502739
24515113
12375
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11793.p1
16.8
M
Autism
NA
Full-scale IQ, 111; non-verbal IQ, 100; verbal IQ, 129
24502739
24515113
12375
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11798.p1
4.8
M
Autism
NA
Full-scale IQ, 114; non-verbal IQ, 111; verbal IQ, 113
24502739
24515113
12375
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11812.p1
8.4
M
Autism
NA
Full-scale IQ, 67; non-verbal IQ, 67; verbal IQ, 77
24511920
24515113
3194
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11855.p1
14.8
M
Autism
NA
Full-scale IQ, 75; non-verbal IQ, 94; verbal IQ, 48
24502739
24515113
12375
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11860.p1
6
M
Autism
NA
Full-scale IQ, 86; non-verbal IQ, 95; verbal IQ, 75
22383817
22431173
47357
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11895.p1
7.9
M
Autism
NA
Full-scale IQ, 86; non-verbal IQ, 92; verbal IQ, 79
24502739
24515113
12375
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11920.p1
10.8
M
Aspergers
NA
Full-scale IQ, 96; non-verbal IQ, 91; verbal IQ, 106
25263762
25352329
88568
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11947.p1
13.1
M
Autism
NA
Full-scale IQ, 31; non-verbal IQ, 33; verbal IQ, 28
24502739
24515113
12375
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11978.p1
9.1
F
ASD
NA
Full-scale IQ, 111; non-verbal IQ, 109; verbal IQ, 113
24502739
24515113
12375
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12008.p1
7.3
M
Autism
NA
Full-scale IQ, 115; non-verbal IQ, 106; verbal IQ, 128
24502739
24515113
12375
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12009.p1
6.8
M
Autism
NA
Full-scale IQ, 78; non-verbal IQ, 87; verbal IQ, 69
24502739
24515113
12375
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12015.p1
7.2
M
Autism
NA
Full-scale IQ, 78; non-verbal IQ, 92; verbal IQ, 60
24502739
24515113
12375
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12048.p1
7.2
M
Autism
NA
Full-scale IQ, 67; non-verbal IQ, 87; verbal IQ, 40
24502739
24515113
12375
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12070.p1
14.4
M
ASD
NA
Full-scale IQ, 77; non-verbal IQ, 77; verbal IQ, 82
24502739
24515113
12375
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12072.p1
15.6
F
Autism
NA
Full-scale IQ, 139; non-verbal IQ, 116; verbal IQ, 167
24502739
24515113
12375
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12074.p1
6.3
F
Autism
NA
Full-scale IQ, 75; non-verbal IQ, 82; verbal IQ, 79
24502739
24520635
17897
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12161.p1
6.3
F
Autism
NA
Full-scale IQ, 106; non-verbal IQ, 95; verbal IQ, 122
24502739
24515113
12375
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12173.p1
7.2
M
Autism
NA
Full-scale IQ, 90; non-verbal IQ, 92; verbal IQ, 93
24502739
24515113
12375
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12175.p1
5.1
M
Autism
NA
Full-scale IQ, 71; non-verbal IQ, 73; verbal IQ, 79
24502739
24515113
12375
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12210.p1
16.3
M
Autism
NA
Full-scale IQ, 18; non-verbal IQ, 19; verbal IQ, 19
25095134
25096006
873
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12231.p1
8.4
M
Autism
NA
Full-scale IQ, 61; non-verbal IQ, 77; verbal IQ, 43
25285613
25296603
10991
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12239.p1
9.1
M
Autism
NA
Full-scale IQ, 73; non-verbal IQ, 68; verbal IQ, 87
24502739
24515113
12375
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12241.p1
4.9
F
Autism
NA
Full-scale IQ, 72; non-verbal IQ, 75; verbal IQ, 76
24502739
24515113
12375
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12250.p1
10.8
F
Aspergers
NA
Full-scale IQ, 85; non-verbal IQ, 78; verbal IQ, 103
24502739
24515113
12375
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12264.p1
8
M
Autism
NA
Full-scale IQ, 41; non-verbal IQ, 49; verbal IQ, 36
24502739
24515113
12375
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12312.p1
5.5
M
Autism
NA
Full-scale IQ, 73; non-verbal IQ, 80; verbal IQ, 70
24502739
24515113
12375
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12315.p1
5.8
M
ASD
NA
Full-scale IQ, 53; non-verbal IQ, 54; verbal IQ, 61
24502739
24515113
12375
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12325.p1
9.5
M
Autism
NA
Full-scale IQ, 96; non-verbal IQ, 106; verbal IQ, 81
24502739
24515113
12375
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12330.p1
4.5
M
Autism
NA
Full-scale IQ, 59; non-verbal IQ, 62; verbal IQ, 62
24502739
24515113
12375
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12331.p1
12.3
M
Aspergers
NA
Full-scale IQ, 115; non-verbal IQ, 114; verbal IQ, 111
24502739
24515113
12375
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12335.p1
6.3
F
Autism
NA
Full-scale IQ, 55; non-verbal IQ, 47; verbal IQ, 66
24502739
24520196
17458
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12341.p1
13.8
M
Autism
NA
Full-scale IQ, 109; non-verbal IQ, 117; verbal IQ, 114
24502739
24515113
12375
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12343.p1
6.2
F
Autism
NA
Full-scale IQ, 30; non-verbal IQ, 42; verbal IQ, 18
24502739
24515113
12375
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12346.p1
13.4
M
Autism
NA
Full-scale IQ, 86; non-verbal IQ, 77; verbal IQ, 106
24502739
24515113
12375
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12354.p1
4.7
M
Autism
NA
Full-scale IQ, 72; non-verbal IQ, 68; verbal IQ, 81
24502739
24515113
12375
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
24502739
24515113
12375
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12378.p1
6.2
F
Autism
NA
Full-scale IQ, 82; non-verbal IQ, 84; verbal IQ, 81
24502739
24520635
17897
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12379.p1
7.1
M
Autism
NA
Full-scale IQ, 88; non-verbal IQ, 93; verbal IQ, 86
24502739
24515113
12375
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12418.p1
13.4
M
Autism
NA
Full-scale IQ, 102; non-verbal IQ, 95; verbal IQ, 115
24502739
24515113
12375
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12426.p1
8.1
M
Autism
NA
Full-scale IQ, 81; non-verbal IQ, 86; verbal IQ, 81
24502739
24515113
12375
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
24502739
24515113
12375
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
21263220
21276892
13673
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12477.p1
14.1
M
Autism
NA
Full-scale IQ, 28; non-verbal IQ, 28; verbal IQ, 27
24502739
24515113
12375
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
22499959
22510755
10797
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12505.p1
5.3
M
ASD
NA
Full-scale IQ, 75; non-verbal IQ, 87; verbal IQ, 48
24502739
24515113
12375
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12515.p1
6.3
F
ASD
NA
Full-scale IQ, 104; non-verbal IQ, 105; verbal IQ, 103
24502739
24515113
12375
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12521.p1
7.2
F
Autism
NA
Full-scale IQ, 78; non-verbal IQ, 78; verbal IQ, 83
24502739
24515113
12375
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12532.p1
11.8
M
Autism
NA
Full-scale IQ, 121; non-verbal IQ, 110; verbal IQ, 135
24502739
24515113
12375
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12534.p1
7
F
Autism
NA
Full-scale IQ, 81; non-verbal IQ, 83; verbal IQ, 84
24502739
24515113
12375
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12555.p1
16.9
M
Autism
NA
Full-scale IQ, 119; non-verbal IQ, 113; verbal IQ, 126
24502739
24515113
12375
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12579.p1
6.6
M
Autism
NA
Full-scale IQ, 33; non-verbal IQ, 52; verbal IQ, 18
24502739
24515113
12375
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12595.p1
4
M
Autism
NA
Full-scale IQ, 119; non-verbal IQ, 122; verbal IQ, 108
20095105
20102163
7059
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12604.p1
4.3
M
Autism
NA
Full-scale IQ, 78; non-verbal IQ, 85; verbal IQ, 75
24502739
24515113
12375
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12616.p1
4.3
M
Autism
NA
Full-scale IQ, 111; non-verbal IQ, 113; verbal IQ, 104
24502739
24515113
12375
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12634.p1
4.2
F
Autism
NA
Full-scale IQ, 69; non-verbal IQ, 75; verbal IQ, 63
24502739
24520196
17458
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12703.p1
12.5
M
Autism
NA
Full-scale IQ, 59; non-verbal IQ, 58; verbal IQ, 61
24502739
24515113
12375
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12761.p1
5.4
M
Autism
NA
Full-scale IQ, 102; non-verbal IQ, 109; verbal IQ, 89
25263762
25352203
88442
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12788.p1
12.5
M
Autism
NA
Full-scale IQ, 93; non-verbal IQ, 94; verbal IQ, 95
24502739
24520196
17458
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12817.p1
9.4
M
Autism
NA
Full-scale IQ, 36; non-verbal IQ, 34; verbal IQ, 37
24502739
24515113
12375
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12836.p1
6.8
M
Autism
NA
Full-scale IQ, 127; non-verbal IQ, 121; verbal IQ, 129
24502739
24515113
12375
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12852.p1
5.1
M
Autism
NA
Full-scale IQ, 77; non-verbal IQ, 78; verbal IQ, 83
24502739
24515113
12375
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12869.p1
5.2
F
Autism
NA
Full-scale IQ, 31; non-verbal IQ, 40; verbal IQ, 22
24502739
24515113
12375
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12888.p1
5.5
M
Autism
NA
Full-scale IQ, 30; non-verbal IQ, 42; verbal IQ, 19
25285613
25297535
11923
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12924.p1
5.5
F
Autism
NA
Full-scale IQ, 104; non-verbal IQ, 117; verbal IQ, 81
24502739
24515113
12375
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12944.p1
7.9
M
ASD
NA
Full-scale IQ, 77; non-verbal IQ, 84; verbal IQ, 60
24502739
24515113
12375
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12976.p1
4.9
M
Autism
NA
Full-scale IQ, 81; non-verbal IQ, 85; verbal IQ, 82
24502739
24515113
12375
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-13021.p1
12.3
M
Autism
NA
Full-scale IQ, 105; non-verbal IQ, 109; verbal IQ, 98
25263762
25352329
88568
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-13036.p1
11.9
M
Autism
NA
Full-scale IQ, 27; non-verbal IQ, 36; verbal IQ, 19
24502739
24515113
12375
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-13042.p1
6.4
M
Autism
NA
Full-scale IQ, 79; non-verbal IQ, 79; verbal IQ, 85
24511920
24515113
3194
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-13056.p1
4.6
M
Autism
NA
Full-scale IQ, 64; non-verbal IQ, 65; verbal IQ, 58
24502739
24520196
17458
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-13104.p1
9.8
M
Autism
NA
Full-scale IQ, 97; non-verbal IQ, 94; verbal IQ, 103
24502739
24522871
20133
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-13222.p1
17.1
F
Autism
NA
Full-scale IQ, 87; non-verbal IQ, 86; verbal IQ, 93
24502739
24515113
12375
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-13222.p1
17.1
F
Autism
NA
Full-scale IQ, 87; non-verbal IQ, 86; verbal IQ, 93
25263762
25352693
88932
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-13244.p1
15.7
M
Autism
NA
Full-scale IQ, 68; non-verbal IQ, 74; verbal IQ, 63
24502739
24515113
12375
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-13323.p1
4.7
M
Autism
NA
Full-scale IQ, 111; non-verbal IQ, 114; verbal IQ, 101
24502739
24515113
12375
GRCh38
Deletion
No
vaags_11_ASD_discovery_cases-probandF1-003
16 yrs. 7 mos.
M
Asperger syndrome
Diagnosis of Asperger syndrome based on ADI-R and clinical diagnosis. Language (as determined by Oral and Written Language Scales/OWLS): receptive language (RL) = 121 (92%); expressive language (EL) = declined to complete. Adaptive Behavior (as measured by Vineland Adaptive Behavior Scales/VABS-I): adaptive behavior composite (ABC) = 75(5%), communication (COM) = 96 (39%), daily living skills (DLS) = 94 (34%), and socialization (SOC) = 52 (<1%). Aggression, anger, anxiety, transition and stimulation (photo-, phono-, and osmophobia) difficulties, sleeplessness, depression, and headaches. Family history: brother with ADHD (lacks NRXN3 deletion); sister with Down syndrome (Trisomy 21; has NRXN3 deletion).
Leiter-R IQ: 119 (92nd %ile)
24497682
24517684
20003
GRCh38
Deletion
No
wang_18_TS_replication_cases-case9345411116_R01C01
N/A
N/A
Tourette syndrome
No additional clinical information available
21163762
21255151
91390
GRCh38
Deletion
No
yin_16_ASD_discovery_cases-case345
N/A
N/A
ASD
Cases diagnosed with autistic disorder according to DSM-IV and confirmed by using the Chinese version of ADI-R.
22190563
22988893
798331
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-control110036021087_
N/A
N/A
Control
No previous psychiatric history
22404682
22822674
417993
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-control110036021608_
N/A
N/A
Control
No previous psychiatric history
25256656
25352329
95674
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-control110036023653_
N/A
N/A
Control
No previous psychiatric history
23163809
23231698
67890
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlB170205_1007854723
N/A
N/A
Control
No previous psychiatric history
25263762
25353889
90128
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlB283019_1007841439
N/A
N/A
Control
No previous psychiatric history
25263762
25352329
88568
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlB473026_1007872207
N/A
N/A
Control
No previous psychiatric history
25233403
25352329
118927
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlB519374_1007852901
N/A
N/A
Control
No previous psychiatric history
25263762
25352329
88568
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlB551574_1007873713
N/A
N/A
Control
No previous psychiatric history
24467429
24553610
86182
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlB557049_1007853857
N/A
N/A
Control
No previous psychiatric history
25313541
25396791
83251
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlB561892_1007853627
N/A
N/A
Control
No previous psychiatric history
25263762
25353889
90128
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlB701762_1007873488
N/A
N/A
Control
No previous psychiatric history
24407066
24515113
108048
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlB714366_1007851282
N/A
N/A
Control
No previous psychiatric history
24440665
24515113
74449
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlB811881_1007870375
N/A
N/A
Control
No previous psychiatric history
23940422
24007753
67332
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlB916240_1007854325
N/A
N/A
Control
No previous psychiatric history
20016260
20068520
52261
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlHABC_900013_900013
N/A
N/A
Control
No previous psychiatric history
21026541
21061643
35103
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlHABC_900059_900059
N/A
N/A
Control
No previous psychiatric history
21728684
22017551
288868
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlHABC_900347_900347
N/A
N/A
Control
No previous psychiatric history
25263762
25352329
88568
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlHABC_900378_900378
N/A
N/A
Control
No previous psychiatric history
24645078
24733228
88151
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlHABC_900464_900464
N/A
N/A
Control
No previous psychiatric history
21626574
21667763
41190
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlHABC_900933_900933
N/A
N/A
Control
No previous psychiatric history
24956625
25049867
93243
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlHABC_901063_901063
N/A
N/A
Control
No previous psychiatric history
24514392
24547246
32855
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlHABC_901113_901113
N/A
N/A
Control
No previous psychiatric history
20660859
20705737
44879
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlHABC_901183_901183
N/A
N/A
Control
No previous psychiatric history
25256656
25522089
265434
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlHABC_902459_902459
N/A
N/A
Control
No previous psychiatric history
25263762
25352203
88442
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlHABC_902573_902573
N/A
N/A
Control
No previous psychiatric history
21409902
21557407
147506
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlHABC_902645_902645
N/A
N/A
Control
No previous psychiatric history
21215327
21267833
52507
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlHABC_902653_902653
N/A
N/A
Control
No previous psychiatric history
24983980
25116676
132697
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlHABC_902975_901251
N/A
N/A
Control
No previous psychiatric history
22962119
23003006
40888
GRCh38
Deletion
No
kanduri_15_ASD_discovery_controls-control_split1519
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
22784110
22894794
110685
Unknown
Deletion
No
levy_11_ASD_discovery_controls-11307.s1
NA
M
Control
NA
NA
21479968
21595853
115886
GRCh38
Deletion
No
levy_11_ASD_discovery_controls-11868.s1
NA
F
Control
NA
NA
23649428
23683147
33720
GRCh38
Deletion
No
poultney_13_ASD_discovery_controls-control04C31170A
N/A
F
Control
NIMH Control (NIMH ID 59702)
21008019
21512185
504167
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11004.s1
10.3
M
Control (matched sibling)
NA
NA
24502739
24515113
12375
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11009.s1
7.6
M
Control (matched sibling)
NA
NA
24502739
24515113
12375
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11011.s1
5.9
M
Control (matched sibling)
NA
NA
24502739
24515113
12375
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11013.s1
7.4
M
Control (matched sibling)
NA
NA
24502739
24515113
12375
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11023.s1
10.4
F
Control (matched sibling)
NA
NA
24502739
24515113
12375
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11047.s1
12.9
F
Control (matched sibling)
NA
NA
24502739
24515113
12375
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11057.s1
5.9
M
Control (matched sibling)
NA
NA
24502739
24515113
12375
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11069.s1
7.4
F
Control (matched sibling)
NA
NA
24502739
24515113
12375
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11083.s1
12.9
F
Control (matched sibling)
NA
NA
24502739
24515113
12375
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11094.s1
12.2
M
Control (matched sibling)
NA
NA
24502739
24515113
12375
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11098.s1
5.7
F
Control (matched sibling)
NA
NA
24645078
24838443
193366
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11120.s1
11.3
F
Control (matched sibling)
NA
NA
24502739
24515113
12375
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11172.s1
13.6
F
Control (matched sibling)
NA
NA
24502739
24515113
12375
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11189.s1
12.2
F
Control (matched sibling)
NA
NA
25263762
25352329
88568
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11195.s1
11.1
F
Control (matched sibling)
NA
NA
24502739
24515113
12375
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11205.s1
4.8
F
Control (matched sibling)
NA
NA
21194380
21205371
10992
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11241.s1
11.9
M
Control (matched sibling)
NA
NA
24502739
24515113
12375
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11246.s1
6.7
F
Control (matched sibling)
NA
NA
24502739
24515113
12375
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11298.s1
13.4
M
Control (matched sibling)
NA
NA
24502739
24520196
17458
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11303.s1
4.5
M
Control (matched sibling)
NA
NA
24502739
24515113
12375
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11307.s1
13.1
M
Control (matched sibling)
NA
NA
21480574
21601759
121186
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11321.s1
15.2
F
Control (matched sibling)
NA
NA
24502739
24515113
12375
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11367.s1
4.6
F
Control (matched sibling)
NA
NA
24498327
24528894
30568
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11390.s1
6.8
F
Control (matched sibling)
NA
NA
24498327
24520635
22309
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11415.s1
13.6
M
Control (matched sibling)
NA
NA
24502739
24515113
12375
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11432.s1
8.1
F
Control (matched sibling)
NA
NA
24502739
24515113
12375
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11439.s1
4.8
M
Control (matched sibling)
NA
NA
24502739
24515113
12375
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11453.s1
8.8
F
Control (matched sibling)
NA
NA
24502739
24515113
12375
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11472.s1
10.6
F
Control (matched sibling)
NA
NA
24498327
24515113
16787
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11499.s1
12.9
M
Control (matched sibling)
NA
NA
24502739
24515113
12375
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11504.s1
5.8
M
Control (matched sibling)
NA
NA
24502739
24515113
12375
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11530.s1
9.4
F
Control (matched sibling)
NA
NA
24498327
24515113
16787
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11544.s1
17.7
M
Control (matched sibling)
NA
NA
24502739
24515113
12375
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11546.s1
11.2
M
Control (matched sibling)
NA
NA
24502739
24515113
12375
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11549.s1
21.9
F
Control (matched sibling)
NA
NA
24332123
24335843
3721
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11573.s1
10.3
F
Control (matched sibling)
NA
NA
21187701
21228183
40483
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11653.s1
5
M
Control (matched sibling)
NA
NA
24502739
24520196
17458
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11696.s1
16.8
M
Control (matched sibling)
NA
NA
24502739
24515113
12375
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11798.s1
7.2
F
Control (matched sibling)
NA
NA
24498327
24515113
16787
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11812.s1
6.3
F
Control (matched sibling)
NA
NA
24502739
24515113
12375
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11835.s1
8
M
Control (matched sibling)
NA
NA
23291528
23299211
7684
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11868.s1
5.2
F
Control (matched sibling)
NA
NA
23651431
23681363
29933
GRCh38
Deletion
Yes
sanders_11_ASD_discovery_controls-11895.s1
4
M
Control (matched sibling)
NA
NA
24502739
24515113
12375
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11909.s1
5.7
M
Control (matched sibling)
NA
NA
24502739
24515113
12375
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11962.s1
7.8
M
Control (matched sibling)
NA
NA
24502739
24515113
12375
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11964.s1
6.7
F
Control (matched sibling)
NA
NA
24502739
24515113
12375
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12011.s1
10
M
Control (matched sibling)
NA
NA
24502739
24515113
12375
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12015.s1
9
F
Control (matched sibling)
NA
NA
24502739
24515113
12375
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12053.s1
7.1
F
Control (matched sibling)
NA
NA
24502739
24515113
12375
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12161.s1
7.7
F
Control (matched sibling)
NA
NA
24502739
24515113
12375
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12173.s1
4.1
M
Control (matched sibling)
NA
NA
24502739
24515113
12375
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12239.s1
7.4
M
Control (matched sibling)
NA
NA
24502739
24515113
12375
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12250.s1
6
F
Control (matched sibling)
NA
NA
24502739
24515113
12375
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12252.s1
4.1
M
Control (matched sibling)
NA
NA
24502739
24515113
12375
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12317.s1
10.8
F
Control (matched sibling)
NA
NA
24754537
24758488
3952
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12323.s1
4
F
Control (matched sibling)
NA
NA
23910968
23912408
1441
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12325.s1
16.3
F
Control (matched sibling)
NA
NA
24498327
24520196
21870
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12331.s1
9.6
F
Control (matched sibling)
NA
NA
24502739
24515113
12375
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12335.s1
4.7
F
Control (matched sibling)
NA
NA
24502739
24520196
17458
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12341.s1
11.3
F
Control (matched sibling)
NA
NA
24502739
24515113
12375
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12346.s1
15
M
Control (matched sibling)
NA
NA
24502739
24515113
12375
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12360.s1
7.9
F
Control (matched sibling)
NA
NA
24502739
24515113
12375
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12378.s1
4.4
M
Control (matched sibling)
NA
NA
24498327
24515113
16787
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12478.s1
14.5
M
Control (matched sibling)
NA
NA
24502739
24515113
12375
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12515.s1
4.2
M
Control (matched sibling)
NA
NA
24502739
24515113
12375
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12532.s1
9
F
Control (matched sibling)
NA
NA
24502739
24515113
12375
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12534.s1
4.7
F
Control (matched sibling)
NA
NA
24502739
24515113
12375
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12548.s1
10.2
F
Control (matched sibling)
NA
NA
24502739
24515113
12375
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12555.s1
18.9
F
Control (matched sibling)
NA
NA
24502739
24515113
12375
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12579.s1
7.8
F
Control (matched sibling)
NA
NA
24502739
24515113
12375
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12621.s1
8.8
M
Control (matched sibling)
NA
NA
25285613
25297535
11923
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-12669.s1
13.2
M
Control (matched sibling)
NA
NA
24502739
24515113
12375
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12743.s1
12
M
Control (matched sibling)
NA
NA
24502739
24515113
12375
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12787.s1
10.8
F
Control (matched sibling)
NA
NA
24502739
24515113
12375
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12788.s1
11.1
F
Control (matched sibling)
NA
NA
24502739
24515113
12375
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12838.s1
7.1
F
Control (matched sibling)
NA
NA
25263762
25352693
88932
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12944.s1
4.8
M
Control (matched sibling)
NA
NA
24502739
24515113
12375
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12964.s1
8.5
M
Control (matched sibling)
NA
NA
20379886
20417955
38070
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12977.s1
5.3
M
Control (matched sibling)
NA
NA
24502739
24515113
12375
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12989.s1
11.4
F
Control (matched sibling)
NA
NA
20379886
20417955
38070
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-13036.s1
10.2
F
Control (matched sibling)
NA
NA
24502739
24515113
12375
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-13051.s1
9.4
F
Control (matched sibling)
NA
NA
24502739
24515113
12375
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-13076.s1
19.5
F
Control (matched sibling)
NA
NA
23067871
23073405
5535
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-13104.s1
8.1
F
Control (matched sibling)
NA
NA
24502739
24515113
12375
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-13169.s1
16
M
Control (matched sibling)
NA
NA
24502739
24515113
12375
GRCh38
Deletion
No
wang_10_ASD_discovery_controls-Aut54
27
M
Control
NA
NA
22944928
23546463
601536
GRCh38
Duplication
No
Cases
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
chen_17_ASD_discovery_cases-caseU-1511
RT-qPCR
Paternal
DMRTA1,CLIC4P1,LINC01239
engchuan_15_ASD_discovery_cases-case1165_3
Unknown
engchuan_15_ASD_discovery_cases-case13047_563
Unknown
engchuan_15_ASD_discovery_cases-case13055_653
Unknown
DMRTA1
engchuan_15_ASD_discovery_cases-case14089_1530
Unknown
LINC01239
engchuan_15_ASD_discovery_cases-case14161_2640
Unknown
engchuan_15_ASD_discovery_cases-case14162_2660
Unknown
engchuan_15_ASD_discovery_cases-case14173_2800
Unknown
engchuan_15_ASD_discovery_cases-case14174_2810
Unknown
engchuan_15_ASD_discovery_cases-case14191_3150
Unknown
engchuan_15_ASD_discovery_cases-case14242_3660
Unknown
engchuan_15_ASD_discovery_cases-case14310_4270
Unknown
engchuan_15_ASD_discovery_cases-case14342_4560
Unknown
engchuan_15_ASD_discovery_cases-case14395_5040
Unknown
engchuan_15_ASD_discovery_cases-case2257_1
Unknown
engchuan_15_ASD_discovery_cases-case3210_4
Unknown
engchuan_15_ASD_discovery_cases-case4238_1
Unknown
engchuan_15_ASD_discovery_cases-case4393_1
Unknown
engchuan_15_ASD_discovery_cases-case5132_3
Unknown
engchuan_15_ASD_discovery_cases-case5330_3
Unknown
engchuan_15_ASD_discovery_cases-case5415_3
Unknown
engchuan_15_ASD_discovery_cases-case5515_3
Unknown
gai_11_ASD_discovery_cases-AU1031302
Inherited
0 genes
gai_11_ASD_discovery_cases-AU1031303
Inherited
0 genes
gai_11_ASD_replication_cases-AU082804
Inherited
KIAA1797
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001012
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Maternal
Unknown
Unknown
TUBB8P1,ERVFRD-3,CDKN2A-DT,UBA52P6,DMRTA1,CDKN2A,CDKN2B,MTAP,CDKN2B-AS1
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001933
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
MIR4473,RNU4-26P,MLLT3
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002397
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
De novo
Unknown
Unknown
UBA52P6,DMRTA1,CLIC4P1,CDKN2A,CDKN2B,LINC01239,CDKN2B-AS1
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005016
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
IFNWP4,IFNW1,IFNA21,IFNWP15,IFNA4,IFNWP9,IFNA7,IFNA10,IFNWP18,IFNA17,IFNWP5,IFNA14,IFNA22P,IFNA5,IFNA20P,IFNA6,IFNA13,IFNA2,IFNA11P,IFNA12P,IFNA8,IFNWP2,IFNA1,IFNWP19,IFNE,MIR31,KHSRPP1,RN7SL151P,TUBB8P1,ERVFRD-3,CDKN2A-DT,UBA52P6,DMRTA1,CLIC4P1,SUMO2P2,NOP56P2,IFNA16,KLHL9,CDKN2A,CDKN2B,MIR31HG,MTAP,LINC01239,ELAVL2,CDKN2B-AS1
kanduri_15_ASD_discovery_cases-case1518
De novo
Unknown
Unknown
Intergenic CNV: nearest genes, ELAVL2(dist=307514),IZUMO3(dist=396777)
kushima_18_SCZ_discovery_cases-caseSCZ1956
While a subset of CNVs were reported to have been validated by qPCR in the report, precisely which CNVs were validated was not reported
Unknown
Unknown
Unknown
FOCAD-AS1,MIR491,SNORA30B,IFNNP1,IFNB1,IFNWP4,IFNW1,IFNA21,IFNWP15,IFNA4,IFNWP9,IFNA7,IFNA10,IFNWP18,IFNA17,IFNWP5,IFNA14,IFNA22P,IFNA5,IFNA20P,IFNA6,IFNA13,IFNA2,IFNA11P,IFNA12P,IFNA8,IFNWP2,IFNA1,IFNWP19,IFNE,MIR31,KHSRPP1,RN7SL151P,TUBB8P1,ERVFRD-3,CDKN2A-DT,UBA52P6,DMRTA1,CLIC4P1,SUMO2P2,NOP56P2,HACD4,IFNA16,KLHL9,CDKN2A,CDKN2B,IZUMO3,MIR31HG,MTAP,LINC01239,ELAVL2,FOCAD,CDKN2B-AS1
kushima_22_SCZ_discovery_cases-caseSCZ1956
qRT-PCR
Unknown
CDKN2A,CDKN2B,ELAVL2,CDKN2A-DT,FOCAD,KLHL9,DMRTA1,IFNA12P,IFNA7,IFNA11P,IFNA8,IFNA1,IFNA5,IFNA2,IFNWP4,IFNA4,IFNWP19,IFNA10,IFNW1,IFNA13,IFNA14,IFNB1,IFNA6,IFNA17,IFNA21,IFNA16,IFNA20P,IFNA22P,IFNE,IFNWP18,IFNWP5,LINC01239,NOP56P2,KHSRPP1,MIR31,HACD4,MIR31HG,MIR491,IFNWP2,CLIC4P1,IFNNP1,CDKN2B-AS1,IFNWP9,IFNWP15,UBA52P6,IZUMO3,MTAP,TUBB8P1,ERVFRD-3,SUMO2P2,FOCAD-AS1,RN7SL151P,SNORA30B,H3P30
marshall_08_ASD_discovery_cases-SK0148-005
qPCR, qmPCR
Unknown
NA
NA
marshall_08_ASD_discovery_cases-SK0278-003
qPCR, qmPCR
Unknown
NA
NA
CLIC4P1,LINC01239
mohamed_21_DD/ID_discovery_cases-case1
Unknown
ELAVL2,NOP56P2,IZUMO3,SUMO2P2
pinto_10_ASD_discovery_cases-case1165_3
Illumina550;Affy5.0
paternal
NA
NA
pinto_10_ASD_discovery_cases-case5132_3
Agilent1M
paternal
NA
NA
pinto_10_ASD_discovery_cases-case5515_3
Agilent1M
paternal
NA
NA
prasad_12_ASD_discovery_cases-case100678L
Unknown
Unknown
Unknown
0 genes
prasad_12_ASD_discovery_cases-case125391
Unknown
Unknown
Unknown
IFNA22P
prasad_12_ASD_discovery_cases-case144127
Unknown
Unknown
Unknown
IFNA1
prasad_12_ASD_discovery_cases-case55360
Unknown
Unknown
Unknown
IFNA22P
prasad_12_ASD_discovery_cases-case69354
Unknown
Unknown
Unknown
IFNA22P
prasad_12_ASD_discovery_cases-case74431
Unknown
Unknown
Unknown
0 genes
prasad_12_ASD_discovery_cases-case88253
Unknown
Unknown
Unknown
KIAA1797
sajan_13_ACC/CBLH/PMG_discovery_cases-caseLR01-282
Not tested by qPCR
Unknown
Unknown
Unknown
MLLT3
sanders_11_ASD_discovery_cases-11004.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11011.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11013.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11023.p1
Both parents
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11048.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11057.p1
Both parents
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11060.p1
Maternal
Simplex (quad-proband unmatched)
Unknown
sanders_11_ASD_discovery_cases-11069.p1
Both parents
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11077.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11083.p1
Paternal
Simplex (quad-proband matched)
Segregated
sanders_11_ASD_discovery_cases-11094.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11114.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11120.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11165.p1
Maternal
Simplex (trio)
NA
LINC01239
sanders_11_ASD_discovery_cases-11172.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11202.p1
Paternal
Simplex (trio)
NA
sanders_11_ASD_discovery_cases-11216.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11232.p1
Maternal
Simplex (quad-proband unmatched)
Unknown
sanders_11_ASD_discovery_cases-11258.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11276.p1
Maternal
Simplex (quad-proband unmatched)
Unknown
sanders_11_ASD_discovery_cases-11301.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11303.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11330.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11334.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11360.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11363.p1
Paternal
Simplex (trio)
NA
sanders_11_ASD_discovery_cases-11370.p1
Maternal
Simplex (trio)
NA
sanders_11_ASD_discovery_cases-11415.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11429.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11432.p1
Both parents
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11439.p1
Both parents
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11464.p1
Maternal
Simplex (trio)
NA
sanders_11_ASD_discovery_cases-11468.p1
Paternal
Simplex (trio)
NA
sanders_11_ASD_discovery_cases-11472.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11489.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11505.p1
Maternal
Simplex (quad-proband matched)
Not segregated
IFNA7
sanders_11_ASD_discovery_cases-11516.p1
Both parents
Simplex (quad-proband unmatched)
Unknown
sanders_11_ASD_discovery_cases-11571.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11573.p1
Paternal
Simplex (quad-proband matched)
Not segregated
IFNA7,IFNA10,IFNWP18,IFNA16
sanders_11_ASD_discovery_cases-11611.p1
Paternal
Simplex (quad-proband unmatched)
Unknown
sanders_11_ASD_discovery_cases-11622.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11622.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11625.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11642.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11654.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11666.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11681.p1
Both parents
Simplex (trio)
NA
sanders_11_ASD_discovery_cases-11694.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11696.p1
Both parents
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11776.p1
Maternal
Simplex (trio)
NA
sanders_11_ASD_discovery_cases-11782.p1
Maternal
Simplex (trio)
NA
sanders_11_ASD_discovery_cases-11793.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11798.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11812.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11855.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11860.p1
Maternal
Simplex (quad-proband matched)
Segregated
sanders_11_ASD_discovery_cases-11895.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11920.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11947.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11978.p1
Both parents
Simplex (trio)
NA
sanders_11_ASD_discovery_cases-12008.p1
Maternal
Simplex (trio)
NA
sanders_11_ASD_discovery_cases-12009.p1
Maternal
Simplex (trio)
NA
sanders_11_ASD_discovery_cases-12015.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12048.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12070.p1
Both parents
Simplex (quad-proband unmatched)
Unknown
sanders_11_ASD_discovery_cases-12072.p1
Maternal
Simplex (quad-proband unmatched)
Unknown
sanders_11_ASD_discovery_cases-12074.p1
Maternal
Simplex (trio)
NA
sanders_11_ASD_discovery_cases-12161.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12173.p1
Both parents
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12175.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12210.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12231.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12239.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12241.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12250.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12264.p1
Maternal
Simplex (trio)
NA
sanders_11_ASD_discovery_cases-12312.p1
Paternal
Simplex (trio)
NA
sanders_11_ASD_discovery_cases-12315.p1
Maternal
Simplex (trio)
NA
sanders_11_ASD_discovery_cases-12325.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12330.p1
Maternal
Simplex (trio)
NA
sanders_11_ASD_discovery_cases-12331.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12335.p1
Both parents
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12341.p1
Both parents
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12343.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12346.p1
Both parents
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12354.p1
Maternal
Simplex (trio)
NA
sanders_11_ASD_discovery_cases-12360.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12378.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12379.p1
Paternal
Simplex (trio)
NA
sanders_11_ASD_discovery_cases-12418.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12426.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12429.p1
Unknown
Simplex (trio)
NA
sanders_11_ASD_discovery_cases-12429.p1
Paternal
Simplex (trio)
NA
sanders_11_ASD_discovery_cases-12477.p1
Maternal
Simplex (trio)
NA
sanders_11_ASD_discovery_cases-12494.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12505.p1
Paternal
Simplex (trio)
NA
sanders_11_ASD_discovery_cases-12515.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12521.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12532.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12534.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12555.p1
Both parents
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12579.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12595.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12604.p1
Paternal
Simplex (trio)
NA
sanders_11_ASD_discovery_cases-12616.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12634.p1
Maternal
Simplex (trio)
NA
sanders_11_ASD_discovery_cases-12703.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12761.p1
Paternal
Simplex (trio)
NA
sanders_11_ASD_discovery_cases-12788.p1
Both parents
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12817.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12836.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12852.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12869.p1
Maternal
Simplex (quad-proband unmatched)
Unknown
sanders_11_ASD_discovery_cases-12888.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12924.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12944.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12976.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-13021.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-13036.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-13042.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-13056.p1
Maternal
Simplex (trio)
NA
sanders_11_ASD_discovery_cases-13104.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-13222.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-13222.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-13244.p1
Both parents
Simplex (trio)
NA
sanders_11_ASD_discovery_cases-13323.p1
Paternal
Simplex (trio)
NA
vaags_11_ASD_discovery_cases-probandF1-003
Unknown
Simplex
Unknown
wang_18_TS_replication_cases-case9345411116_R01C01
Validation failed
De novo
IFNA21,IFNWP15,IFNA4,IFNWP9,IFNA7,IFNA10,IFNWP18,IFNA17,IFNWP5,IFNA14,IFNA16
yin_16_ASD_discovery_cases-case345
Unknown
Unknown
Unknown
DMRTA1,CLIC4P1,LINC01239
Controls
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
engchuan_15_ASD_discovery_controls-control110036021087_
Unknown
DMRTA1,CLIC4P1,LINC01239
engchuan_15_ASD_discovery_controls-control110036021608_
Unknown
engchuan_15_ASD_discovery_controls-control110036023653_
Unknown
engchuan_15_ASD_discovery_controls-controlB170205_1007854723
Unknown
engchuan_15_ASD_discovery_controls-controlB283019_1007841439
Unknown
engchuan_15_ASD_discovery_controls-controlB473026_1007872207
Unknown
engchuan_15_ASD_discovery_controls-controlB519374_1007852901
Unknown
engchuan_15_ASD_discovery_controls-controlB551574_1007873713
Unknown
IZUMO3
engchuan_15_ASD_discovery_controls-controlB557049_1007853857
Unknown
engchuan_15_ASD_discovery_controls-controlB561892_1007853627
Unknown
engchuan_15_ASD_discovery_controls-controlB701762_1007873488
Unknown
engchuan_15_ASD_discovery_controls-controlB714366_1007851282
Unknown
engchuan_15_ASD_discovery_controls-controlB811881_1007870375
Unknown
engchuan_15_ASD_discovery_controls-controlB916240_1007854325
Unknown
engchuan_15_ASD_discovery_controls-controlHABC_900013_900013
Unknown
IFNNP1,HACD4
engchuan_15_ASD_discovery_controls-controlHABC_900059_900059
Unknown
TUBB8P1,ERVFRD-3,CDKN2A-DT,UBA52P6,CDKN2A,CDKN2B,MTAP,CDKN2B-AS1
engchuan_15_ASD_discovery_controls-controlHABC_900347_900347
Unknown
engchuan_15_ASD_discovery_controls-controlHABC_900378_900378
Unknown
engchuan_15_ASD_discovery_controls-controlHABC_900464_900464
Unknown
engchuan_15_ASD_discovery_controls-controlHABC_900933_900933
Unknown
engchuan_15_ASD_discovery_controls-controlHABC_901063_901063
Unknown
IZUMO3
engchuan_15_ASD_discovery_controls-controlHABC_901113_901113
Unknown
FOCAD-AS1,FOCAD
engchuan_15_ASD_discovery_controls-controlHABC_901183_901183
Unknown
engchuan_15_ASD_discovery_controls-controlHABC_902459_902459
Unknown
engchuan_15_ASD_discovery_controls-controlHABC_902573_902573
Unknown
IFNA8,IFNWP2,IFNA1,IFNWP19,IFNE,MIR31,MIR31HG
engchuan_15_ASD_discovery_controls-controlHABC_902645_902645
Unknown
IFNA17,IFNWP5,IFNA14,IFNA16
engchuan_15_ASD_discovery_controls-controlHABC_902653_902653
Unknown
RN7SKP120
engchuan_15_ASD_discovery_controls-controlHABC_902975_901251
Unknown
kanduri_15_ASD_discovery_controls-control_split1519
Unknown
FLJ35282 (non-coding RNA, exonic)
levy_11_ASD_discovery_controls-11307.s1
Paternal
Simplex
NA
IFNE,MIR31,MIR31HG
levy_11_ASD_discovery_controls-11868.s1
De novo
Simplex
NA
NOP56P2
poultney_13_ASD_discovery_controls-control04C31170A
Unknown
IFNNP1,IFNB1,IFNWP4,IFNW1,IFNA21,IFNWP15,IFNA4,IFNWP9,IFNA7,IFNA10,IFNWP18,IFNA17,IFNWP5,IFNA14,IFNA22P,IFNA5,IFNA20P,IFNA6,IFNA13,IFNA2,IFNA11P,IFNA12P,IFNA8,IFNWP2,IFNA1,IFNWP19,IFNE,MIR31,HACD4,IFNA16,KLHL9,MIR31HG
sanders_11_ASD_discovery_controls-11004.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11009.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11011.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11013.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11023.s1
Both parents
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11047.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11057.s1
Both parents
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11069.s1
Both parents
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11083.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11094.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11098.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11120.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11172.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11189.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11195.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11205.s1
Maternal
Simplex (quad)
NA
IFNA7
sanders_11_ASD_discovery_controls-11241.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11246.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11298.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11303.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11307.s1
Paternal
Simplex (quad)
NA
IFNE,MIR31,MIR31HG
sanders_11_ASD_discovery_controls-11321.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11367.s1
Unknown
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11390.s1
Unknown
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11415.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11432.s1
Both parents
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11439.s1
Both parents
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11453.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11472.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11499.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11504.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11530.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11544.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11546.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11549.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11573.s1
Paternal
Simplex (quad)
NA
IFNWP9,IFNA7,IFNA10,IFNWP18,IFNA17,IFNA16
sanders_11_ASD_discovery_controls-11653.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11696.s1
Both parents
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11798.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11812.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11835.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11868.s1
qPCR
De Novo
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11895.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11909.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11962.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11964.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12011.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12015.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12053.s1
Both parents
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12161.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12173.s1
Both parents
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12239.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12250.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12252.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12317.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12323.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12325.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12331.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12335.s1
Both parents
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12341.s1
Both parents
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12346.s1
Both parents
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12360.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12378.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12478.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12515.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12532.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12534.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12548.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12555.s1
Both parents
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12579.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12621.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12669.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12743.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12787.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12788.s1
Both parents
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12838.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12944.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12964.s1
Unknown
Simplex (quad)
NA
MIR4473,MLLT3
sanders_11_ASD_discovery_controls-12977.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12989.s1
Paternal
Simplex (quad)
NA
MIR4473,MLLT3
sanders_11_ASD_discovery_controls-13036.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-13051.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-13076.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-13104.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-13169.s1
Maternal
Simplex (quad)
NA
wang_10_ASD_discovery_controls-Aut54
Unknown
NA
NA
No Animal Model Data Available