3p11.1CNV Type: Deletion-Duplication
Largest CNV size: 188598 bp
Statistics Box:
Number of Reports: 10
Number of Reports: 10
Summary Information
Summary statement in development
Additional Locus Information
References
Major Reports
Title
Author, Year
Report Class
CNV Type
Functional impact of global rare copy number variation in autism spectrum disorders.
Deletion
An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabili...
Duplication
Minor Reports
Title
Author, Year
Report Class
CNV Type
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
Refinement and discovery of new hotspots of copy-number variation associated with autism spectrum disorder.
Duplication
Rare exonic deletions implicate the synaptic organizer Gephyrin (GPHN) in risk for autism, schizophrenia and seizures.
Deletion
Identification of risk genes for autism spectrum disorder through copy number variation analysis in Austrian families.
Deletion
Performance of case-control rare copy number variation annotation in classification of autism.
Deletion
Genome-wide analysis of copy number variations identifies PARK2 as a candidate gene for autism spectrum disorder.
Deletion
Rare Inherited and De Novo CNVs Reveal Complex Contributions to ASD Risk in Multiplex Families.
Duplication
Cases
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
egger_14_ASD_discovery_cases
ASD probands from Austria (71 simplex, 2 multiplex) recruited from the catchment area of Styria using three recruitment sites (Institute of Human Genetics, Medical University of Graz, Club Libelle, Center for Autism, Styria, and Children's Hospital, University Hospital Graz).
73
Diagnosis of ASD made using ADOS and ADI-R according to DSM-IV or DSM-V categories
N/A
80.82% Male
25000
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
127145
4
0
4
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
927000
0
1
1
kaminsky_11_DD/ID/ASD_discovery_cases
Cases from the International Standards for Cytogenomic Arrays (ISCA) consortium
15749
Unexplained developmental delay, intellectual disability, dysmorphic features, multiple congenital anomalies, autism spectrum disorders, or clinical features suggestive of a chromosomal syndrome
NA
NA
756401
0
1
1
leppa_16_ASD_discovery_cases
Children affected with ASD from 1,464 families from the Autism Genetic Resource Exchange (AGRE)
1764
Diagnosis according to ADOS and ADI-R
N/A
N/A
500000
0
1
1
lionel_13_ASD/SCZ/EP_discovery_cases
Patient cohort composed of 1158 Canadian ASD patients, 72 Austrian ASD patients, 450 Canadian schizophrenia patients, and a clinical dataset of 3704 individuals with primary diagnosis of ASD and/or seizure disorder referred for clinical microarray testing at the Mayo Clinic cytogenetics laboratory.
5384
ASD (n=1230), schizophrenia (n=450), and ASD and/or seizure disorder (n=3704). Canadian and Austrian ASD patients met criteria for ASD diagnosis based on ADI-R and/or ADOS.
NA
NA
24790
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
14724
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
188598
38
42
80
vaags_11_ASD_discovery_cases
Discovery cohort of Canadian individuals with ASD
1158
ASD
NA
NA
185660
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
541
1
0
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
56842
2
0
2
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
42095
3
0
3
nord_11_ASD_discovery_controls
Samples from 367 total control individuals (319 European American, 48 African American) used to test for differences in rare CNV prevalence compared with autism cases
123
Controls (no history of psychiatric symptoms by self-report)
30 yrs.
199617
0
1
1
poultney_13_ASD_discovery_controls
Controls matched for European ancestry from NIMH and CEPH retained after filtering (original cohort size of 379 controls)
260
Control
N/A
47.49% Male (before filtering)
371758
0
2
2
sanders_11_ASD_discovery_controls
Matched siblings of autistic probands from the Simons Simplex Collection (SSC).
872
Controls
Mean, 10.0 yrs.
114898
30
23
53
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
541
0
0
0
Cases
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
egger_14_ASD_discovery_cases
68 European, 2 Asian, 1 African, 1 Turkish, 1 Egyptian
Array SNP
Affymetrix 6.0
Birdsuite, iPattern, Affymetrix Genotyping Console
None
engchuan_15_ASD_discovery_cases
Caucasian
Solid phase hybridization
Illumina 1M
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
leppa_16_ASD_discovery_cases
N/A
Solid phase hybridization
Illumina 550v1 and 550v3, Omni-1.0-B and -H, Omni 2.5
PennCNV, QuantiSNP, GNOSIS
GenomeStudio, CNVision
None
lionel_13_ASD/SCZ/EP_discovery_cases
NA
aCGH, array SNP
Agilent ISCA 44K, Agilent 180K, Affymetrix 6.0
Agilent DNA Analytics, Birdsuite, iPattern, Affymetrix Genotyping Console
None
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)
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
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
nord_11_ASD_discovery_controls
aCGH
NimbleGen HD2
Sliding-window algorithm, ~10 kb minumum size threshold
None
poultney_13_ASD_discovery_controls
European
WES
Agilent SureSelect Human All Exon v.2
XHMM
None
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
egger_14_ASD_discovery_cases-caseA130
N/A
N/A
ASD
Clinical profile N/A.
89345442
89371338
25897
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case16030_1571003001
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
89308921
89368021
59101
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case1946_301
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
89340357
89467502
127146
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case3088_3
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
89353297
89387645
34349
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case6323_3
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
89621206
89746749
125544
GRCh38
Deletion
No
girirajan_13a_ASD_discovery_cases-13944.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
89328160
90258160
930001
GRCh38
Duplication
No
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004524
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
89499290
90255691
756402
GRCh38
Duplication
Yes
leppa_16_ASD_discovery_cases-AU072905
N/A
M
ASD
89855850
90378850
523001
GRCh38
Duplication
No
lionel_13_ASD/SCZ/EP_discovery_cases-proband1
13 yrs.
F
ASD
Diagnosis of high-functioning ASD made following assessment at 13 years of age using ADOS and ADI-R. Birth/neonatal history: uncomplicated pregnancy; delivery at 38 weeks of gestation. Developmental milestones: walking at 12 months, otherwise had slow motor development and gait issues, which prompted ergotherapy; language delay with no speech at 2 yrs., followed by gradual speech development by 4 yrs. Language and communication evaluation: episodes of echolalia. Behavioral/psychiatric evaluation: up to 6 years of age, case continued to desire swaddling and had hypersensitivty to light and sound associated with self-injury (head banging, tearing hair). Dysmorphic features: none reported. Family history: non-consanguineous parents; no reported medical or neuropsychiatric conditions in parents or two older siblings.
Completed secondary school degree with exception of mathematics
89345442
89370231
24790
GRCh38
Deletion
No
pinto_10_ASD_discovery_cases-case2232_1
NA
M
Autism
Language delay, overall nondysmorphic appearance, macrocephalic, wide nasal bridge, partial transverse palmar crease on left hand, leaky gut, numerous food allergies, wears glasses for mild hypermetropia, no epilepsy, normal brain MRI
Mild MR
89485137
89499861
14724
Unknown
Deletion
Yes
sanders_11_ASD_discovery_cases-11011.p1
8.3
M
Autism
NA
Full-scale IQ, 78; non-verbal IQ, 88; verbal IQ, 69
90227361
90331937
104577
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11097.p1
5.4
M
Autism
NA
Full-scale IQ, 92; non-verbal IQ, 91; verbal IQ 99
89621206
89626720
5515
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11124.p1
11.1
M
Autism
NA
Full-scale IQ, 57; non-verbal IQ, 72; verbal IQ, 44
89340357
89372989
32633
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11144.p1
10.9
M
Autism
NA
Full-scale IQ, 111; non-verbal IQ, 127; verbal IQ, 99
89621206
89626720
5515
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11179.p1
13.3
M
Autism
NA
Full-scale IQ, 57; non-verbal IQ, 65; verbal IQ, 41
90289369
90444732
155364
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11184.p1
9.5
M
Autism
NA
Full-scale IQ, 90; non-verbal IQ, 94; verbal IQ, 86
89620432
89626720
6289
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11220.p1
12.1
F
Autism
NA
Full-scale IQ, 80; non-verbal IQ, 87; verbal IQ, 75
89621206
89626720
5515
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
89621206
89626720
5515
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
89621206
89626720
5515
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11352.p1
5.3
M
Autism
NA
Full-scale IQ, 54; non-verbal IQ, 59; verbal IQ, 60
89621206
89626720
5515
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11367.p1
7.6
M
Aspergers
NA
Full-scale IQ, 115; non-verbal IQ, 119; verbal IQ, 119
89621206
89626720
5515
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11375.p1
6.2
M
Autism
NA
Full-scale IQ, 108; non-verbal IQ, 115; verbal IQ, 93
89620432
89626720
6289
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11381.p1
5.6
M
Autism
NA
Full-scale IQ, 79; non-verbal IQ, 89; verbal IQ, 68
89621206
89626720
5515
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11393.p1
8.2
M
Autism
NA
Full-scale IQ, 28; non-verbal IQ, 37; verbal IQ, 17
89621206
89626720
5515
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11445.p1
8.1
M
Autism
NA
Full-scale IQ, 90; non-verbal IQ, 90; verbal IQ, 67
90227361
90331937
104577
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11472.p1
13.7
F
Autism
NA
Full-scale IQ, 30; non-verbal IQ, 30; verbal IQ, 31
89620432
89626720
6289
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11485.p1
5.6
M
Autism
NA
Full-scale IQ, 78; non-verbal IQ, 75; verbal IQ, 63
89621206
89626720
5515
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11491.p1
7.8
M
Autism
NA
Full-scale IQ, 53; non-verbal IQ, 63; verbal IQ, 44
89620432
89626720
6289
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11511.p1
10.6
M
Autism
NA
Full-scale IQ, 127; non-verbal IQ, 129; verbal IQ, 113
90264244
90331937
67694
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11555.p1
9.1
F
Aspergers
NA
Full-scale IQ, 95; non-verbal IQ, 98; verbal IQ, 91
89620432
89626720
6289
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11601.p1
6.3
M
Autism
NA
Full-scale IQ, 91; non-verbal IQ, 98; verbal IQ, 83
90403492
90455495
52004
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11657.p1
4.9
M
Autism
NA
Full-scale IQ, 71; non-verbal IQ, 75; verbal IQ, 73
90368610
90455495
86886
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11680.p1
8
M
Autism
NA
Full-scale IQ, 71; non-verbal IQ, 82; verbal IQ, 54
90403492
90455495
52004
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11835.p1
6.3
M
Autism
NA
Full-scale IQ, 85; non-verbal IQ, 92; verbal IQ, 77
89621206
89626720
5515
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11911.p1
9.9
F
Autism
NA
Full-scale IQ, 82; non-verbal IQ, 86; verbal IQ, 79
89621206
89626720
5515
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11993.p1
7.8
M
Autism
NA
Full-scale IQ, 80; non-verbal IQ, 86; verbal IQ, 73
89621206
89626720
5515
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
90403492
90455495
52004
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12050.p1
5.5
M
Autism
NA
Full-scale IQ, 58; non-verbal IQ, 60; verbal IQ, 64
89621206
89626720
5515
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12066.p1
7.5
M
Autism
NA
Full-scale IQ, 121; non-verbal IQ, 131; verbal IQ, 95
89621206
89626720
5515
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12068.p1
12.5
M
Autism
NA
Full-scale IQ, 35; non-verbal IQ, 39; verbal IQ, 26
90259073
90331937
72865
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12100.p1
11.3
M
Autism
NA
Full-scale IQ, 71; non-verbal IQ, 64; verbal IQ, 87
90403492
90455495
52004
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12103.p1
6.6
M
Autism
NA
Full-scale IQ, 38; non-verbal IQ, 44; verbal IQ, 31
90354355
90455495
101141
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12173.p1
7.2
M
Autism
NA
Full-scale IQ, 90; non-verbal IQ, 92; verbal IQ, 93
90368610
90438204
69595
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12194.p1
5.7
M
Autism
NA
Full-scale IQ, 88; non-verbal IQ, 97; verbal IQ, 78
90418675
90455495
36821
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12206.p1
17.1
M
Aspergers
NA
Full-scale IQ, 130; non-verbal IQ, 141; verbal IQ, 113
90403492
90455495
52004
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12229.p1
10.1
M
Autism
NA
Full-scale IQ, 84; non-verbal IQ, 89; verbal IQ, 80
90351681
90354355
2675
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12250.p1
10.8
F
Aspergers
NA
Full-scale IQ, 85; non-verbal IQ, 78; verbal IQ, 103
90403492
90455495
52004
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12250.p1
10.8
F
Aspergers
NA
Full-scale IQ, 85; non-verbal IQ, 78; verbal IQ, 103
89621206
89626720
5515
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12261.p1
16.3
M
Autism
NA
Full-scale IQ, 86; non-verbal IQ, 95; verbal IQ, 73
90403492
90455495
52004
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12275.p1
4.4
M
Autism
NA
Full-scale IQ, 111; non-verbal IQ, 111; verbal IQ, 107
90403492
90455495
52004
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12286.p1
4.8
M
Autism
NA
Full-scale IQ, 108; non-verbal IQ, 104; verbal IQ, 111
90354355
90455495
101141
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12299.p1
6.3
M
Autism
NA
Full-scale IQ, 118; non-verbal IQ, 113; verbal IQ, 125
90403492
90455495
52004
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12347.p1
8.8
M
Autism
NA
Full-scale IQ, 121; non-verbal IQ, 125; verbal IQ, 107
89621206
89626720
5515
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12367.p1
9.4
M
ASD
NA
Full-scale IQ, 114; non-verbal IQ, 111; verbal IQ, 117
89621206
89626720
5515
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
89621206
89626720
5515
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12404.p1
5.1
M
Autism
NA
Full-scale IQ, 48; non-verbal IQ, 50; verbal IQ, 57
90403492
90455495
52004
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12420.p1
7.8
M
Autism
NA
Full-scale IQ, 131; non-verbal IQ, 132; verbal IQ, 123
89621206
89626720
5515
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12456.p1
14.3
F
Autism
NA
Full-scale IQ, 40; non-verbal IQ, 45; verbal IQ, 30
89621206
89626720
5515
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
90403492
90455495
52004
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12548.p1
11.9
M
Autism
NA
Full-scale IQ, 100; non-verbal IQ, 113; verbal IQ, 76
90389324
90444732
55409
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12561.p1
5.8
M
Autism
NA
Full-scale IQ, 102; non-verbal IQ, 101; verbal IQ, 103
90403492
90455495
52004
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12578.p1
5.4
M
Autism
NA
Full-scale IQ, 81; non-verbal IQ, 83; verbal IQ, 81
89621206
89626720
5515
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12621.p1
5.8
M
Autism
NA
Full-scale IQ, 113; non-verbal IQ, 120; verbal IQ, 96
90418675
90455495
36821
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12690.p1
11.6
M
Autism
NA
Full-scale IQ, 110; non-verbal IQ, 112; verbal IQ, 103
90289369
90455495
166127
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12832.p1
6.3
F
Autism
NA
Full-scale IQ, 53; non-verbal IQ, 58; verbal IQ, 51
90403492
90455495
52004
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12837.p1
4.2
M
Autism
NA
Full-scale IQ, 89; non-verbal IQ, 92; verbal IQ, 89
90403492
90455495
52004
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12838.p1
4.7
M
Autism
NA
Full-scale IQ, 78; non-verbal IQ, 93; verbal IQ, 50
90403492
90455495
52004
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12843.p1
6.2
M
Autism
NA
Full-scale IQ, 93; non-verbal IQ, 101; verbal IQ, 84
90368610
90455495
86886
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12851.p1
4.7
M
Autism
NA
Full-scale IQ, 37; non-verbal IQ, 49; verbal IQ, 14
90403492
90455495
52004
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12944.p1
7.9
M
ASD
NA
Full-scale IQ, 77; non-verbal IQ, 84; verbal IQ, 60
89621206
89626720
5515
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12956.p1
5.1
M
Autism
NA
Full-scale IQ, 84; non-verbal IQ, 91; verbal IQ, 80
89621206
89626720
5515
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12972.p1
10.8
M
Autism
NA
Full-scale IQ, 72; non-verbal IQ, 79; verbal IQ, 63
90353408
90455495
102088
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12972.p1
10.8
M
Autism
NA
Full-scale IQ, 72; non-verbal IQ, 79; verbal IQ, 63
90289369
90351681
62313
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12984.p1
10.1
M
Autism
NA
Full-scale IQ, 100; non-verbal IQ, 102; verbal IQ, 96
90403492
90455495
52004
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12989.p1
7.1
M
Autism
NA
Full-scale IQ, 82; non-verbal IQ, 83; verbal IQ, 88
90403492
90455495
52004
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12997.p1
9.6
M
Autism
NA
Full-scale IQ, 97; non-verbal IQ, 94; verbal IQ, 103
90403492
90455495
52004
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-13005.p1
4.4
M
Autism
NA
Full-scale IQ, 117; non-verbal IQ, 116; verbal IQ, 114
89621206
89626720
5515
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-13006.p1
10.5
M
Autism
NA
Full-scale IQ, 56; non-verbal IQ, 56; verbal IQ, 57
89621206
89626720
5515
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-13013.p1
8.1
M
Autism
NA
Full-scale IQ, 72; non-verbal IQ, 68; verbal IQ, 86
89558151
89746749
188599
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-13015.p1
5.3
M
Autism
NA
Full-scale IQ, 78; non-verbal IQ, 80; verbal IQ, 81
90403492
90455495
52004
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-13038.p1
8.8
M
Autism
NA
Full-scale IQ, 96; non-verbal IQ, 94; verbal IQ, 100
90403492
90455495
52004
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-13041.p1
7
M
Autism
NA
Full-scale IQ, 98; non-verbal IQ, 102; verbal IQ, 93
90403492
90455495
52004
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-13043.p1
6.2
M
Autism
NA
Full-scale IQ, 125; non-verbal IQ, 127; verbal IQ, 111
90403492
90455495
52004
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-13050.p1
4.4
M
Autism
NA
Full-scale IQ, 98; non-verbal IQ, 93; verbal IQ, 108
90403492
90455495
52004
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-13057.p1
4.2
M
Autism
NA
Full-scale IQ, 108; non-verbal IQ, 118; verbal IQ, 87
89621206
89626720
5515
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-13063.p1
7.8
M
Autism
NA
Full-scale IQ, 49; non-verbal IQ, 62; verbal IQ, 30
89621206
89626720
5515
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-13077.p1
11.4
M
Autism
NA
Full-scale IQ, 107; non-verbal IQ, 109; verbal IQ, 105
90403492
90444732
41241
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-13095.p1
9.8
M
Autism
NA
Full-scale IQ, 29; non-verbal IQ, 32; verbal IQ, 25
90331937
90354355
22419
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-13183.p1
5.8
M
Autism
NA
Full-scale IQ, 60; non-verbal IQ, 69; verbal IQ, 56
90403492
90455495
52004
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-13266.p1
7.9
M
Autism
NA
Full-scale IQ, 87; non-verbal IQ, 95; verbal IQ, 81
90403492
90455495
52004
GRCh38
Duplication
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)
90259073
90444732
185660
GRCh38
Deletion
No
yin_16_ASD_discovery_cases-case117
N/A
N/A
ASD
Cases diagnosed with autistic disorder according to DSM-IV and confirmed by using the Chinese version of ADI-R.
89370219
89370759
541
GRCh38
Deletion
No
Controls
Patient ID
Author, Year
Age
Gender
Primary Diagnosis
Clinical Profile
Cognitive Profile
CNV Start
CNV End
CNV Size
Genome Build
Type Method
Validation
engchuan_15_ASD_discovery_controls-control110036019115_
N/A
N/A
Control
No previous psychiatric history
89330785
89368021
37237
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlHABC_900291_900291
N/A
N/A
Control
No previous psychiatric history
89621206
89678048
56843
GRCh38
Deletion
No
kanduri_15_ASD_discovery_controls-control_split1532
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
90400831
90442925
42095
Unknown
Deletion
No
kanduri_15_ASD_discovery_controls-control_split1552
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
89670356
89675870
5515
Unknown
Deletion
No
kanduri_15_ASD_discovery_controls-control_split1803
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
89670356
89675870
5515
Unknown
Deletion
No
nord_11_ASD_discovery_controls-04C26625
Control
90034952
90234568
199617
Unknown
Duplication
poultney_13_ASD_discovery_controls-control05C41778
N/A
M
Control
NIMH Control (NIMH ID 47544)
89127207
89413268
286062
GRCh38
Duplication
No
poultney_13_ASD_discovery_controls-control05C41920
N/A
M
Control
NIMH Control (NIMH ID 55831)
89107747
89479504
371758
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11064.s1
10
F
Control (matched sibling)
NA
NA
89620432
89626720
6289
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11141.s1
5.2
F
Control (matched sibling)
NA
NA
89558151
89667416
109266
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11144.s1
14
F
Control (matched sibling)
NA
NA
89620432
89626720
6289
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11150.s1
6.5
M
Control (matched sibling)
NA
NA
90227361
90331937
104577
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11184.s1
8.1
F
Control (matched sibling)
NA
NA
89621206
89626720
5515
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11220.s1
13.6
F
Control (matched sibling)
NA
NA
89621206
89626720
5515
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11352.s1
7.5
F
Control (matched sibling)
NA
NA
89621206
89626720
5515
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11367.s1
4.6
F
Control (matched sibling)
NA
NA
89326283
89376882
50600
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11375.s1
4.6
F
Control (matched sibling)
NA
NA
89620432
89636914
16483
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11429.s1
18.6
M
Control (matched sibling)
NA
NA
89620432
89626720
6289
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11472.s1
10.6
F
Control (matched sibling)
NA
NA
89621206
89626720
5515
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11538.s1
9.2
M
Control (matched sibling)
NA
NA
90418675
90455495
36821
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11564.s1
6.3
F
Control (matched sibling)
NA
NA
89621206
89626720
5515
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11575.s1
15.1
F
Control (matched sibling)
NA
NA
89485227
89500272
15046
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11722.s1
9.8
M
Control (matched sibling)
NA
NA
89621206
89626720
5515
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11794.s1
4.3
F
Control (matched sibling)
NA
NA
89555624
89667416
111793
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11843.s1
16.9
F
Control (matched sibling)
NA
NA
89621206
89626720
5515
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11916.s1
6.9
F
Control (matched sibling)
NA
NA
89621206
89626720
5515
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11935.s1
6.2
M
Control (matched sibling)
NA
NA
89621206
89626720
5515
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11941.s1
8.7
F
Control (matched sibling)
NA
NA
90351681
90455495
103815
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11993.s1
5.8
M
Control (matched sibling)
NA
NA
89620432
89626720
6289
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12073.s1
7.3
F
Control (matched sibling)
NA
NA
90403492
90455495
52004
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-12115.s1
8.5
M
Control (matched sibling)
NA
NA
90403492
90455495
52004
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-12250.s1
6
F
Control (matched sibling)
NA
NA
89621206
89626720
5515
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12250.s1
6
F
Control (matched sibling)
NA
NA
90389324
90455495
66172
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-12275.s1
8.4
M
Control (matched sibling)
NA
NA
90389324
90455495
66172
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-12373.s1
11.7
F
Control (matched sibling)
NA
NA
89620432
89729486
109055
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12375.s1
7.5
F
Control (matched sibling)
NA
NA
90403492
90455495
52004
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-12409.s1
9
F
Control (matched sibling)
NA
NA
89621206
89626720
5515
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12430.s1
8.3
M
Control (matched sibling)
NA
NA
90403492
90455495
52004
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-12456.s1
12
M
Control (matched sibling)
NA
NA
89620432
89626720
6289
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12532.s1
9
F
Control (matched sibling)
NA
NA
90403492
90455495
52004
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-12541.s1
8.3
M
Control (matched sibling)
NA
NA
90403492
90455495
52004
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-12578.s1
8.8
F
Control (matched sibling)
NA
NA
89624990
89626720
1731
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12581.s1
15.7
M
Control (matched sibling)
NA
NA
90403492
90455495
52004
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-12623.s1
8.8
M
Control (matched sibling)
NA
NA
90340597
90455495
114899
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-12641.s1
7.6
F
Control (matched sibling)
NA
NA
90204014
90264244
60231
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-12650.s1
4.7
F
Control (matched sibling)
NA
NA
90389324
90455495
66172
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-12656.s1
16.3
M
Control (matched sibling)
NA
NA
90351681
90455495
103815
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-12704.s1
6.4
F
Control (matched sibling)
NA
NA
90403492
90455495
52004
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-12722.s1
6.8
M
Control (matched sibling)
NA
NA
90351681
90455495
103815
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-12788.s1
11.1
F
Control (matched sibling)
NA
NA
90289369
90315787
26419
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12790.s1
8.9
F
Control (matched sibling)
NA
NA
89621206
89626720
5515
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12879.s1
6.3
M
Control (matched sibling)
NA
NA
90403492
90455495
52004
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-12892.s1
15.4
F
Control (matched sibling)
NA
NA
90418675
90455495
36821
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-12944.s1
4.8
M
Control (matched sibling)
NA
NA
89621206
89626720
5515
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12972.s1
7.2
F
Control (matched sibling)
NA
NA
90289369
90368610
79242
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12984.s1
12
M
Control (matched sibling)
NA
NA
90403492
90455495
52004
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-12989.s1
11.4
F
Control (matched sibling)
NA
NA
90403492
90455495
52004
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-13016.s1
9.5
F
Control (matched sibling)
NA
NA
90389324
90455495
66172
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-13036.s1
10.2
F
Control (matched sibling)
NA
NA
89621206
89626720
5515
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-13057.s1
4.2
F
Control (matched sibling)
NA
NA
89621206
89626720
5515
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-13296.s1
4.3
F
Control (matched sibling)
NA
NA
90023258
90061871
38614
GRCh38
Deletion
No
Cases
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
egger_14_ASD_discovery_cases-caseA130
Unknown
Unknown
EPHA3
engchuan_15_ASD_discovery_cases-case16030_1571003001
Unknown
EPHA3
engchuan_15_ASD_discovery_cases-case1946_301
Unknown
EPHA3
engchuan_15_ASD_discovery_cases-case3088_3
Unknown
EPHA3
engchuan_15_ASD_discovery_cases-case6323_3
Unknown
girirajan_13a_ASD_discovery_cases-13944.p1
Unknown
Simplex
Unknown
MTCO2P6,MTCO1P6,RNU6-712P,PROS2P,EPHA3
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004524
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Maternal
Unknown
Unknown
MTCO2P6,MTCO1P6,RNU6-712P,PROS2P
leppa_16_ASD_discovery_cases-AU072905
Paternal
Multiplex
Not segregated (CNV not present in affected sibling)
RNU6-712P,HSPE1P19,PROS2P
lionel_13_ASD/SCZ/EP_discovery_cases-proband1
Unknown
Simplex
Unknown
EPHA3
pinto_10_ASD_discovery_cases-case2232_1
qPCR, Affymetrix 6.0
Both parents
NA
NA
EPHA3 intronic
sanders_11_ASD_discovery_cases-11011.p1
Paternal
Simplex (quad-proband matched)
Segregated
HSPE1P19,PROS2P
sanders_11_ASD_discovery_cases-11097.p1
Maternal
Simplex (trio)
NA
sanders_11_ASD_discovery_cases-11124.p1
Paternal
Simplex (quad-proband matched)
Not segregated
EPHA3
sanders_11_ASD_discovery_cases-11144.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11179.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11184.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11220.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-11347.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11352.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11367.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11375.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11381.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11393.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11445.p1
Unknown
Simplex (quad-proband matched)
Not segregated
HSPE1P19,PROS2P
sanders_11_ASD_discovery_cases-11472.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11485.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11491.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11511.p1
Unknown
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11555.p1
Maternal
Simplex (quad-proband unmatched)
Unknown
sanders_11_ASD_discovery_cases-11601.p1
Both parents
Simplex (quad-proband matched)
Segregated
sanders_11_ASD_discovery_cases-11657.p1
Unknown
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11680.p1
Maternal
Simplex (trio)
NA
sanders_11_ASD_discovery_cases-11835.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11911.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11993.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12009.p1
Unknown
Simplex (trio)
NA
sanders_11_ASD_discovery_cases-12050.p1
Maternal
Simplex (trio)
NA
sanders_11_ASD_discovery_cases-12066.p1
Maternal
Simplex (quad-proband unmatched)
Unknown
sanders_11_ASD_discovery_cases-12068.p1
Maternal
Simplex (quad-proband matched)
Not segregated
HSPE1P19
sanders_11_ASD_discovery_cases-12100.p1
Unknown
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12103.p1
Maternal
Simplex (quad-proband unmatched)
Unknown
sanders_11_ASD_discovery_cases-12173.p1
Unknown
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12194.p1
Both parents
Simplex (trio)
NA
sanders_11_ASD_discovery_cases-12206.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12229.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12250.p1
Both parents
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-12261.p1
Both parents
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12275.p1
Both parents
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12286.p1
Unknown
Simplex (trio)
NA
sanders_11_ASD_discovery_cases-12299.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12347.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12367.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12379.p1
Maternal
Simplex (trio)
NA
sanders_11_ASD_discovery_cases-12404.p1
Both parents
Simplex (trio)
NA
sanders_11_ASD_discovery_cases-12420.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12456.p1
Both parents
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12532.p1
Both parents
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12548.p1
Both parents
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12561.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12578.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12621.p1
Both parents
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12690.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12832.p1
Both parents
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12837.p1
Both parents
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12838.p1
Both parents
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12843.p1
Maternal
Simplex (quad-proband unmatched)
Unknown
sanders_11_ASD_discovery_cases-12851.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-12956.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12972.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12972.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12984.p1
Both parents
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12989.p1
Both parents
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12997.p1
Both parents
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-13005.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-13006.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-13013.p1
Unknown
Simplex (trio)
NA
MTCO2P6,MTCO1P6
sanders_11_ASD_discovery_cases-13015.p1
Both parents
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-13038.p1
Both parents
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-13041.p1
Both parents
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-13043.p1
Maternal
Simplex (quad-proband unmatched)
Unknown
sanders_11_ASD_discovery_cases-13050.p1
Both parents
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-13057.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-13063.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-13077.p1
Both parents
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-13095.p1
Paternal
Simplex (quad-proband unmatched)
Unknown
sanders_11_ASD_discovery_cases-13183.p1
Both parents
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-13266.p1
Both parents
Simplex (quad-proband matched)
Not segregated
vaags_11_ASD_discovery_cases-probandF1-003
Unknown
Simplex
Unknown
HSPE1P19
yin_16_ASD_discovery_cases-case117
Unknown
Unknown
Unknown
EPHA3
Controls
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
engchuan_15_ASD_discovery_controls-control110036019115_
Unknown
EPHA3
engchuan_15_ASD_discovery_controls-controlHABC_900291_900291
Unknown
kanduri_15_ASD_discovery_controls-control_split1532
Unknown
Intergenic CNV: nearest genes, EPHA3(dist=869547)
kanduri_15_ASD_discovery_controls-control_split1552
Unknown
Intergenic CNV: nearest genes, EPHA3(dist=139072)
kanduri_15_ASD_discovery_controls-control_split1803
Unknown
Intergenic CNV: nearest genes, EPHA3(dist=139072)
nord_11_ASD_discovery_controls-04C26625
0 genes
poultney_13_ASD_discovery_controls-control05C41778
Unknown
EPHA3
poultney_13_ASD_discovery_controls-control05C41920
Unknown
EPHA3
sanders_11_ASD_discovery_controls-11064.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11141.s1
Unknown
Simplex (quad)
NA
MTCO2P6,MTCO1P6
sanders_11_ASD_discovery_controls-11144.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11150.s1
Unknown
Simplex (quad)
NA
HSPE1P19,PROS2P
sanders_11_ASD_discovery_controls-11184.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11220.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11352.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11367.s1
Unknown
Simplex (quad)
NA
EPHA3
sanders_11_ASD_discovery_controls-11375.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11429.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11472.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11538.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11564.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11575.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11722.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11794.s1
Unknown
Simplex (quad)
NA
MTCO2P6,MTCO1P6
sanders_11_ASD_discovery_controls-11843.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11916.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11935.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11941.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11993.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12073.s1
Both parents
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12115.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12250.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12250.s1
Both parents
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12275.s1
Both parents
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12373.s1
Unknown
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12375.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12409.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12430.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12456.s1
Both parents
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12532.s1
Both parents
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12541.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12578.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12581.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12623.s1
Unknown
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12641.s1
Paternal
Simplex (quad)
NA
HSPE1P19,PROS2P
sanders_11_ASD_discovery_controls-12650.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12656.s1
Unknown
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12704.s1
Both parents
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12722.s1
Both parents
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12788.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12790.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12879.s1
Both parents
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12892.s1
Both parents
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12944.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12972.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12984.s1
Both parents
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12989.s1
Both parents
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-13016.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-13036.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-13057.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-13296.s1
Maternal
Simplex (quad)
NA
No Animal Model Data Available