13q31.1CNV Type: Deletion-Duplication
Largest CNV size: 557226 bp
Statistics Box:
Number of Reports: 15
Number of Reports: 15
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...
Deletion
Copy number variants in extended autism spectrum disorder families reveal candidates potentially involved in autism risk.
Deletion
Paternally inherited cis-regulatory structural variants are associated with autism.
Deletion
Minor Reports
Title
Author, Year
Report Class
CNV Type
Identifying autism loci and genes by tracing recent shared ancestry.
Deletion
Reduced transcript expression of genes affected by inherited and de novo CNVs in autism.
Deletion
Novel copy number variants in children with autism and additional developmental anomalies.
Duplication
Multiple recurrent de novo CNVs, including duplications of the 7q11.23 Williams syndrome region, are strongly associated with autism.
Deletion-Duplication
Relative burden of large CNVs on a range of neurodevelopmental phenotypes.
Duplication
Epileptic encephalopathies of the Landau-Kleffner and continuous spike and waves during slow-wave sleep types: genomic dissection makes the link wi...
Deletion
A discovery resource of rare copy number variations in individuals with autism spectrum disorder.
Deletion-Duplication
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
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
brandler_18_ASD_discovery_cases
Affected individuals from the Relating Genes with Adolescent and Child Health (REACH) cohort (362 cases from 311 families; 54 multiplex, 243 simplex) and the Simons Simplex 1 (SSC1) cohort (518 cases from simplex quad families)
880
REACH cohort: 285 cases diagnosed with ASD, 43 cases diagnosed with PDD-NOS, 10 cases diagnosed with ADHD, and 24 cases presenting with speech delay, epilepsy, anxiety, or other related developmental disorders that were classified as cases for bioinformatics analyses; Simons Simplex Collection 1 (SSC1) cohort: all 518 cases were diagnosed with ASD
N/A
N/A
25266
1
0
1
davis_09_ASD_discovery_cases
Autistic cases from Autism Genetic Research Exchange (AGRE)
36
ASD: diagnosis confirmed through ADI and in some cases ADOS-G. 17 cases with syndromic autism (autism and less than common craniofacial dysmorphology, limb or digit abnormality, or ocular abnormality), 19 cases selected at random with autism and no associated syndromic features
NA
NA
59905
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
276087
19
2
21
girirajan_11_ASD_discovery_cases
ASD cases with sporadic autism from the Simons Simplex Collection (SSC)
336
Diagnosis of ASD based on meeting criteria on ADOS, ADI-R, and expert clinical judgment. 246 cases with no intellectual disability, 90 cases with intellectual disability. Exclusion criteria: significant hearing, vision, or motor problems; significant birth complications; a diagnosis of ASD-related disorders, such as Fragile X; or having a relative (up to 3rd degree) with ASD or sibling showing ASD-related symptoms.
672264
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
2836543
2
0
2
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
2874
1
0
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
lesca_12_EP_discovery_cases
Epilepsy patients collected at four French hospitals from 2009: Strasbourg Univ. Hospital (n=40), Lyons Univ. Hospital (n=18), Henri Gastaut Hospital (St. Paul Centre) in Marseille (n=2), and Reims American Memorial Hospital (n=1).
61
Epilepsy/epileptic encephalopathy. 41 patients with continuous spike and wave during slow-wave sleep syndrome (CSWSS), 20 patients with Landau-Kleffner syndrome (LKS). 12 (out of 57) patients displayed autistic features; ADHD features (hyperactivity, attention deficit and/or aggressiveness) reported in 41/58 patients,
Mean age of diagnosis: 5.6 yrs. (range, 1-14 yrs.)
61% Male
36000
1
0
1
morrow_08_ASD_discovery_cases
Affected individuals from 70 families (52 simplex, 18 multiplex) recruited by Homozygosity Mapping Collaborative for Autism (HMCA) used in CNV analysis. This cohort was selected from an original population of affected individuals from 104 families (79 simplex, 25 multiplex; 82.7% male); 88 of these pedigrees have cousin marriages.
94
ASD (based on DSM-IV-TR diagnoses when research scales not available in native language)
232200
2
0
2
nord_11_ASD_discovery_cases
Youth with ASD (as part of mother-father-child trios)
41
ASD
85.4% Male
47032
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
55488
1
0
1
prasad_12_ASD_discovery_cases
Unrelated ASD cases recruited from three Canadian sites (Hospital for Sick Children, McMaster University, and Memorial University of Newfoundland); the majority of cases had been previously genotyped with results published in Marshall et al., 2008 and Pinto et al., 2010. 20 cases from initial cohort of 696 were excluded from further analysis (due to CNVs > 5 Mb).
676
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS
NA
82.84% Male
195156
5
2
7
salyakina_11_ASD_discovery_cases
ASD patients from extended ASD families (defined as families with at least two affected cousins)
97
ASD. Inclusion criteria: (1) age between 3 and 21 yrs of age; (2) presumptive clinical diagnosis of ASD; (3) diagnosis determined using DSM-IV criteria supported by ADI-R; (4) IQ > 35 or developmental level >18 months as described by VABS
Range, 3-21 yrs.
5237
3
0
3
sanders_11_ASD_discovery_cases
Autistic probands from the Simons Simplex Collection (SSC). 872 probands in quartet families, 272 probands in trios.
1124
ASD diagnosis: 89.5% autism; 8.5% PDD-NOS, 2% Asperger syndrome. Mean full-scale IQ 85.1 1.5 (mean verbal IQ, 81.9 1.7; mean non-verbal IQ, 88.4 1.4)
Mean, 9.1 yrs.
86.1% Male
557226
81
13
94
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
45194
0
1
1
Controls
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
engchuan_15_ASD_discovery_controls
Platform-matched controls from three large studies: SAGE (Study of Addiction Genetics and Environment), Ontario Colorectal Cancer study, and HABC (Health Aging and Body Composition)
2342
Controls; subjects had no previous psychiatric history
N/A
46.67% Male
194827
23
4
27
girirajan_11_ASD_discovery_controls
Control individuals ascertained by NIMH Genetics Initiative. DNA samples from these individuals were obtained from the Rutgers Univ. Cell & DNA Repository.
337
Control. Individuals screened specifically for eight mental health disorders.
672264
0
0
0
kaminsky_11_DD/ID/ASD_discovery_controls
Controls from the International Standards for Cytogenomic Arrays (ISCA) consortium
10118
Controls
NA
NA
NA
NA
NA
NA
kanduri_15_ASD_discovery_controls
Unrelated Finnish samples from the cohort of Health 2000 survey from an initial sample of 288 individuals following quality control
269
Controls screened for DSM-IV mental disorders using the Composite International Diagnostic Interview and psychotic disorders using the research version of the Structured Clinical Interview for DSM-IV
N/A
N/A
226757
6
0
6
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.
335727
2
1
3
prasad_12_ASD_discovery_controls
PDx controls [1000 DNA samples from reportedly healthy donors (50.2% male) from BioServe (Beltsville, MD)] and 4139 in-house controls previously reported in Krawcak et al. 2006, Stewart et al. 2009, and Bierut et al. 2010. CNVs identified in controls were used to define rare ASD-specific CNVs.
5139
Control
NA
NA (PDx controls 50.2% male)
195156
0
0
0
salyakina_11_ASD_discovery_controls
Pediatric control samples recruited by Hussman Institute for Human Genomics (HHIG, Univ. of Miami) and Centennial Medical Center (Nashville, TN) as part of preterm birth study (Nashville Borth Cohort, NBC)
838
Controls. Exclusion criteria: participants, or those with first degree relatives, with developmental, behavioral, or neurological conditions
5237
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.
494206
63
16
79
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
45194
0
0
0
Cases
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
brandler_18_ASD_discovery_cases
N/A
WGS
Illumina HiSeq X10 or HiSeq 2500
ForestSV, Lumpy, Manta, Mobster, SV2
PCR, array SNP
davis_09_ASD_discovery_cases
NA
Array SNP
Affymetrix 250K Nsp, Affymetrix 250K Syt
HMM
CNAG v2.0
None
engchuan_15_ASD_discovery_cases
Caucasian
Solid phase hybridization
Illumina 1M
None
girirajan_11_ASD_discovery_cases
aCGH
Custom microarray targeting 107 genomic hotspot regions (Roche NimbleGen Hotspot v1.0 array; 12 x 135K)
HMM
None
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
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
lesca_12_EP_discovery_cases
France
aCGH
Agilent SurePrint G3 Human CGH Microarray 4x180K
ADM-2
Agilent Feature Extraction v10.7.3.1, Agilent Genomic WORKBENCH v5.0.14
None
morrow_08_ASD_discovery_cases
Arabic Middle East, Turkey, and Pakistan
Array SNP
Affymetrix 500K
BRLMM
dChip
nord_11_ASD_discovery_cases
29 European American, 3 Asian American, 2 Hispanic, 2 African American, 5 unknown ancestry
aCGH
NimbleGen HD2
Sliding-window algorithm, ~10 kb minumum size threshold
None
pinto_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
salyakina_11_ASD_discovery_cases
Solid phase hybridization
Illumina Human 1Mv1_C BeadChip or Illumina 1M-DuoV3 BeadChip
PennCNV
BeadStudio v3
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
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
girirajan_11_ASD_discovery_controls
aCGH
Custom microarray targeting 107 genomic hotspot regions (Roche NimbleGen Hotspot v1.0 array; 12 x 135K)
HMM
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
prasad_12_ASD_discovery_controls
NA
aCGH
Agilent 1M
ADM-2, DNAcopy (R Bioconductor)
DNA Analytics v4.0.85 (Agilent), DNAcopy
salyakina_11_ASD_discovery_controls
727 Caucasian, 111 African-American
sanders_11_ASD_discovery_controls
Solid phase hybridization
Illumina 1M v1 or Illumina 1M v3
PennCNV, QuantiSNP, GNOSIS
yin_16_ASD_discovery_controls
Han Chinese
Array SNP
Affymetrix 6.0
Affymetrix Genotyping Console v.4.1
None
Cases
Patient ID
Author, Year
Age
Gender
Primary Diagnosis
Clinical Profile
Cognitive Profile
CNV Start
CNV End
CNV Size
Genome Build
Type Method
Validation
brandler_18_ASD_discovery_cases-caseMT_45.3
N/A
M
PDD-NOS
Case from REACH cohort
86606389
86631655
25267
GRCh38
Deletion
Yes
davis_09_ASD_discovery_cases-AU1376302
NA
NA
Syndromic ASD
Diagnosis: autism. Syndromic autism features: iris coloboma
82986031
83078785
59905
Unknown
Duplication
No
engchuan_15_ASD_discovery_cases-case13014_193
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
83528305
83583792
55488
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case13053_633
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
80616743
80656794
40052
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case14109_1970
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
86735720
86773649
37930
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case14143_2410
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
83547510
83650069
102560
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case14179_2900
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
81427864
81587764
159901
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case14179_2900
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
83528305
83583792
55488
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case14203_3290
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
83524449
83583792
59344
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case16029_1571001001
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
79131788
79188240
56453
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case20028_1134001
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
83528305
83583792
55488
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case20045_1261001
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
80843761
81003140
159380
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case20048_1265001
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
81618264
81755946
137683
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case20160_1432001
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
85274904
85550991
276088
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case3310_3
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
83528305
83583792
55488
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case3615_3
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
86932259
87011210
78952
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case4336_1
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
83528305
83588661
60357
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case4390_1
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
86034461
86090870
56410
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case5107_3
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
83528305
83583792
55488
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case5257_3
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
83528305
83583792
55488
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case6002_4
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
84062535
84149242
86708
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case6030_6
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
83528305
83583792
55488
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case8497_202
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
83528305
83583792
55488
GRCh38
Deletion
No
girirajan_11_ASD_discovery_cases-Si144
10
M
Autism
ADOS score: 10. Vineland composite score: 71.
No mental retardation/intellectual disability. Full-scale IQ, 92; Verbal IQ, 82; Non-verbal IQ, 96.
84073039
84745303
672265
GRCh38
Duplication
No
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004365
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
80001586
82838129
2836544
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004993
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
82224001
83303969
1079969
GRCh38
Deletion
Yes
kanduri_15_ASD_discovery_cases-case3076
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.
83788742
83791615
2874
Unknown
Deletion
No
leppa_16_ASD_discovery_cases-AU3127302
N/A
M
ASD
80056865
80553865
497001
GRCh38
Duplication
No
lesca_12_EP_discovery_cases-caseDZ77
NA
M
Epilepsy + autistic features
Phenotype: i-CSWSS. Seizure Characteristics: Awake. Autistic features: Yes. ADHD features: Yes. Other features: None.
Initial cognitive development: Delayed. Cognitive regression: Yes. Verbal IQ 65, performance IQ 78 (at 4.5 years of age).
79847958
79884002
36045
GRCh38
Deletion
No
morrow_08_ASD_discovery_cases-case11401
NA
ASD
NA
NA
82122000
82354000
232200
Unknown
Deletion
No
morrow_08_ASD_discovery_cases-case5201
NA
ASD
NA
NA
81946000
82043000
97000
Unknown
Deletion
No
nord_11_ASD_discovery_cases-256-1
ASD
83476851
83523882
47032
Unknown
Deletion
No
pinto_10_ASD_discovery_cases-case5107_3
NA
M
ASD
NA
NA
83528305
83583792
55488
GRCh38
Deletion
Yes
prasad_12_ASD_discovery_cases-case139324
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
79283299
79319235
35937
Unknown
Duplication
No
prasad_12_ASD_discovery_cases-case146446L
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
84187976
84221529
33554
Unknown
Duplication
No
prasad_12_ASD_discovery_cases-case67953L
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
80807827
81002982
195156
Unknown
Deletion
No
prasad_12_ASD_discovery_cases-case77203
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
81596666
81639138
42473
Unknown
Deletion
No
prasad_12_ASD_discovery_cases-case77203
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
81437997
81482530
44534
Unknown
Deletion
No
prasad_12_ASD_discovery_cases-case77405L
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
85431338
85440037
8700
Unknown
Deletion
No
prasad_12_ASD_discovery_cases-case85750
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
82181914
82228103
46190
Unknown
Deletion
No
salyakina_11_ASD_discovery_cases-17142_001
M
PDD-NOS
Overall low muscle tone, delayed language development
78440355
78445592
5238
GRCh38
Deletion
Yes
salyakina_11_ASD_discovery_cases-17142_101
M
Autism
78440355
78445592
5238
GRCh38
Deletion
Yes
salyakina_11_ASD_discovery_cases-17142_106
M
PDD-NOS
ADHD symptoms, depression, possible schizophrenia, seizures. Regression of social engagement at 96 months.
78440355
78445592
5238
GRCh38
Deletion
Yes
sanders_11_ASD_discovery_cases-11027.p1
9.3
M
ASD
NA
Full-scale IQ, 83; non-verbal IQ, 84; verbal IQ, 86
83528305
83591536
63232
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11030.p1
8.3
M
ASD
NA
Full-scale IQ, 104; non-verbal IQ, 103; verbal IQ, 98
82618095
82624816
6722
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11037.p1
9.3
M
Autism
NA
Full-scale IQ, 83; non-verbal IQ, 86; verbal IQ, 83
83214571
83217480
2910
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11092.p1
13.1
M
Autism
NA
Full-scale IQ, 109; non-verbal IQ, 125; verbal IQ, 108
84709776
84715637
5862
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11168.p1
11.3
M
Autism
NA
Full-scale IQ, 96; non-verbal IQ, 106; verbal IQ, 119
79847205
79880401
33197
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11181.p1
6.3
M
ASD
NA
Full-scale IQ, 86; non-verbal IQ, 81; verbal IQ, 101
81670167
82043627
373461
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11206.p1
6.1
M
Autism
NA
Full-scale IQ, 36; non-verbal IQ, 40; verbal IQ, 32
83528305
83591536
63232
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11274.p1
11.6
F
ASD
NA
Full-scale IQ, 113; non-verbal IQ, 114; verbal IQ, 107
83214571
83217480
2910
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11297.p1
12.8
M
Autism
NA
Full-scale IQ, 87; non-verbal IQ, 98; verbal IQ 73
83471778
83492926
21149
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11300.p1
10.1
M
Autism
NA
Full-scale IQ, 96; non-verbal IQ, 97; verbal IQ, 94
83212382
83217480
5099
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
83214571
83217480
2910
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11323.p1
8.6
F
Autism
NA
Full-scale IQ, 109; non-verbal IQ, 114; verbal IQ, 98
83528305
83591492
63188
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11333.p1
9.8
M
Autism
NA
Full-scale IQ, 63; non-verbal IQ, 70; verbal IQ, 53
85227407
85229952
2546
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
85281999
85294188
12190
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11352.p1
5.3
M
Autism
NA
Full-scale IQ, 54; non-verbal IQ, 59; verbal IQ, 60
83214571
83217480
2910
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11396.p1
13.6
M
Autism
NA
Full-scale IQ, 124; non-verbal IQ, 124; verbal IQ, 118
83372747
83383942
11196
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11440.p1
8.2
F
Autism
NA
Full-scale IQ, 101; non-verbal IQ, 90; verbal IQ, 122
81380741
81412959
32219
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11466.p1
9.2
M
Aspergers
NA
Full-scale IQ, 121; non-verbal IQ, 121; verbal IQ, 113
86386940
86590602
203663
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11518.p1
11.2
M
Autism
NA
Full-scale IQ, 37; non-verbal IQ, 49; verbal IQ, 13
85227407
85228572
1166
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11520.p1
9.6
M
Autism
NA
Full-scale IQ, 68; non-verbal IQ, 77; verbal IQ, 57
82726134
82757703
31570
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11557.p1
4.8
M
Autism
NA
Full-scale IQ, 78; non-verbal IQ, 80; verbal IQ, 81
83214571
83217480
2910
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11567.p1
9.4
F
Autism
NA
Full-scale IQ, 48; non-verbal IQ, 55; verbal IQ, 34
86623216
86810845
187630
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11578.p1
5.1
M
ASD
NA
Full-scale IQ, 120; non-verbal IQ, 120; verbal IQ, 115
84071374
84092301
20928
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11609.p1
5.3
M
Autism
NA
Full-scale IQ, 78; non-verbal IQ, 79; verbal IQ, 83
83372747
83379558
6812
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11665.p1
9.9
M
Autism
NA
Full-scale IQ, 72; non-verbal IQ, 79; verbal IQ, 65
79845904
79874399
28496
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11677.p1
7.9
M
Autism
NA
Full-scale IQ, 101; non-verbal IQ, 100; verbal IQ, 103
83214571
83217480
2910
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11680.p1
8
M
Autism
NA
Full-scale IQ, 71; non-verbal IQ, 82; verbal IQ, 54
83528305
83591536
63232
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11709.p1
6.8
F
Autism
NA
Full-scale IQ, 58; non-verbal IQ, 62; verbal IQ, 59
83532337
83583792
51456
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11724.p1
10.9
M
Autism
NA
Full-scale IQ, 59; non-verbal IQ, 56; verbal IQ, 67
83588661
83608464
19804
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11765.p1
11.2
M
Autism
NA
Full-scale IQ, 34; non-verbal IQ, 39; verbal IQ, 24
83528305
83591492
63188
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
81563388
82120614
557227
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11806.p1
4.1
M
Autism
NA
Full-scale IQ, 105; non-verbal IQ, 106; verbal IQ, 102
83214571
83217480
2910
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11809.p1
6.6
M
Autism
NA
Full-scale IQ, 92; non-verbal IQ, 95; verbal IQ, 91
85227407
85229952
2546
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11810.p1
7.3
M
Autism
NA
Full-scale IQ, 92; non-verbal IQ, 87; verbal IQ, 104
83528305
83588661
60357
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11835.p1
6.3
M
Autism
NA
Full-scale IQ, 85; non-verbal IQ, 92; verbal IQ, 77
83528305
83583792
55488
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11893.p1
8.3
F
Autism
NA
Full-scale IQ, 42; non-verbal IQ, 49; verbal IQ, 30
83372747
83379558
6812
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
85227407
85228572
1166
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11989.p1
9.6
M
Autism
NA
Full-scale IQ, 89; non-verbal IQ, 94; verbal IQ, 83
80566431
80572261
5831
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11995.p1
5.4
M
Autism
NA
Full-scale IQ, 90; non-verbal IQ, 101; verbal IQ, 77
85227407
85229952
2546
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12001.p1
5.1
M
Autism
NA
Full-scale IQ, 108; non-verbal IQ, 104; verbal IQ, 111
83528305
83591492
63188
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12026.p1
6.6
M
Autism
NA
Full-scale IQ, 51; non-verbal IQ, 72; verbal IQ, 36
83528305
83591536
63232
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12033.p1
10.8
M
Autism
NA
Full-scale IQ, 90; non-verbal IQ, 102; verbal IQ, 73
85227407
85229952
2546
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12093.p1
6
M
ASD
NA
Full-scale IQ, 113; non-verbal IQ, 120; verbal IQ, 97
82617103
82624816
7714
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12096.p1
11.7
M
Autism
NA
Full-scale IQ, 119; non-verbal IQ, 119; verbal IQ, 114
81755946
81782378
26433
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12103.p1
6.6
M
Autism
NA
Full-scale IQ, 38; non-verbal IQ, 44; verbal IQ, 31
83214571
83217480
2910
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12184.p1
12.9
F
Autism
NA
Full-scale IQ, 28; non-verbal IQ, 31; verbal IQ, 21
85268615
85275116
6502
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12210.p1
16.3
M
Autism
NA
Full-scale IQ, 18; non-verbal IQ, 19; verbal IQ, 19
83214571
83217480
2910
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
83528305
83591492
63188
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12239.p1
9.1
M
Autism
NA
Full-scale IQ, 73; non-verbal IQ, 68; verbal IQ, 87
85227407
85229952
2546
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12297.p1
15
M
Autism
NA
Full-scale IQ, 97; non-verbal IQ, 102; verbal IQ, 89
83214571
83217480
2910
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12310.p1
9.5
M
Autism
NA
Full-scale IQ, 59; non-verbal IQ, 71; verbal IQ, 35
85227407
85229952
2546
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12310.p1
9.5
M
Autism
NA
Full-scale IQ, 59; non-verbal IQ, 71; verbal IQ, 35
83214571
83217480
2910
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12320.p1
8.5
M
Autism
NA
Full-scale IQ, 104; non-verbal IQ, 107; verbal IQ, 100
83372747
83379558
6812
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
85227407
85229952
2546
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
83214571
83217480
2910
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
81804841
81806147
1307
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12390.p1
6.5
M
Autism
NA
Full-scale IQ, 86; non-verbal IQ, 97; verbal IQ, 75
83372747
83379558
6812
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12392.p1
7
M
ASD
NA
Full-scale IQ, 103; non-verbal IQ, 102; verbal IQ, 105
83214571
83217480
2910
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12407.p1
9.4
M
ASD
NA
Full-scale IQ, 68; non-verbal IQ, 86; verbal IQ, 41
83214571
83217480
2910
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12420.p1
7.8
M
Autism
NA
Full-scale IQ, 131; non-verbal IQ, 132; verbal IQ, 123
83214571
83217480
2910
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12420.p1
7.8
M
Autism
NA
Full-scale IQ, 131; non-verbal IQ, 132; verbal IQ, 123
83372747
83379558
6812
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12430.p1
9.8
F
Autism
NA
Full-scale IQ, 109; non-verbal IQ, 110; verbal IQ, 106
85227407
85228572
1166
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12438.p1
4.1
M
Autism
NA
Full-scale IQ, 75; non-verbal IQ, 93; verbal IQ, 74
85227407
85229952
2546
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12444.p1
9.5
F
Autism
NA
Full-scale IQ, 65; non-verbal IQ, 59; verbal IQ, 79
81155249
81224287
69039
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12462.p1
16.8
M
Autism
NA
Full-scale IQ, 112; non-verbal IQ, 113; verbal IQ, 108
85227407
85229952
2546
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12483.p1
15.5
M
Autism
NA
Full-scale IQ, 95; non-verbal IQ, 92; verbal IQ, 102
83214571
83217480
2910
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12497.p1
4.6
M
Autism
NA
Full-scale IQ, 55; non-verbal IQ, 63; verbal IQ, 49
83528305
83602744
74440
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12505.p1
5.3
M
ASD
NA
Full-scale IQ, 75; non-verbal IQ, 87; verbal IQ, 48
83372747
83379558
6812
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12536.p1
5.9
M
Autism
NA
Full-scale IQ, 85; non-verbal IQ, 90; verbal IQ, 81
85227407
85229952
2546
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
85227407
85229952
2546
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12582.p1
6.3
M
Autism
NA
Full-scale IQ, 57; non-verbal IQ, 73; verbal IQ, 45
86654174
86759219
105046
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12582.p1
6.3
M
Autism
NA
Full-scale IQ, 57; non-verbal IQ, 73; verbal IQ, 45
84261084
84293769
32686
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12582.p1
6.3
M
Autism
NA
Full-scale IQ, 57; non-verbal IQ, 73; verbal IQ, 45
83524449
83597221
72773
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12647.p1
6.8
M
Autism
NA
Full-scale IQ, 72; non-verbal IQ, 73; verbal IQ, 81
85227407
85229952
2546
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12669.p1
16.3
M
Autism
NA
Full-scale IQ, 101; non-verbal IQ, 91; verbal IQ, 120
83528305
83591492
63188
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12742.p1
4.8
M
ASD
NA
Full-scale IQ, 105; non-verbal IQ, 103; verbal IQ, 106
83214571
83217480
2910
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12749.p1
7.3
M
Autism
NA
Full-scale IQ, 73; non-verbal IQ, 86; verbal IQ, 59
83214571
83217480
2910
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12785.p1
7.6
M
Autism
NA
Full-scale IQ, 84; non-verbal IQ, 85; verbal IQ, 88
83528305
83591536
63232
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12832.p1
6.3
F
Autism
NA
Full-scale IQ, 53; non-verbal IQ, 58; verbal IQ, 51
83214571
83217480
2910
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12894.p1
6.8
M
Autism
NA
Full-scale IQ, 77; non-verbal IQ, 80; verbal IQ, 79
83214571
83217480
2910
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12948.p1
17.9
F
Autism
NA
Full-scale IQ, 65; non-verbal IQ, 57; verbal IQ, 81
83648601
83661541
12941
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-13001.p1
6.3
M
Autism
NA
Full-scale IQ, 72; non-verbal IQ, 91; verbal IQ, 46
83528305
83583792
55488
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-13005.p1
4.4
M
Autism
NA
Full-scale IQ, 117; non-verbal IQ, 116; verbal IQ, 114
83213340
83217480
4141
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-13019.p1
5.1
M
Autism
NA
Full-scale IQ, 36; non-verbal IQ, 52; verbal IQ, 20
80510929
80571873
60945
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-13033.p1
4.7
M
Autism
NA
Full-scale IQ, 55; non-verbal IQ, 67; verbal IQ, 43
83528305
83591536
63232
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-13048.p1
12.9
F
Autism
NA
Full-scale IQ, 35; non-verbal IQ, 40; verbal IQ, 26
85284058
85294188
10131
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-13048.p1
12.9
F
Autism
NA
Full-scale IQ, 35; non-verbal IQ, 40; verbal IQ, 26
83214571
83217480
2910
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-13174.p1
10
M
Aspergers
NA
Full-scale IQ, 106; non-verbal IQ, 93; verbal IQ, 126
83528305
83591492
63188
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-13216.p1
4.8
M
Autism
NA
Full-scale IQ, 105; non-verbal IQ, 110; verbal IQ, 93
86025639
86090870
65232
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-13226.p1
8.7
M
ASD
NA
Full-scale IQ, 85; non-verbal IQ, 87; verbal IQ, 85
83528305
83603075
74771
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
83214571
83217480
2910
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-13301.p1
13.6
M
Autism
NA
Full-scale IQ, 105; non-verbal IQ, 95; verbal IQ, 124
85227407
85229952
2546
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-13322.p1
16.9
M
Autism
NA
Full-scale IQ, 59; non-verbal IQ, 62; verbal IQ, 56
85227407
85228572
1166
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-13324.p1
4.9
M
Autism
NA
Full-scale IQ, 83; non-verbal IQ, 89; verbal IQ, 78
81755946
81791630
35685
GRCh38
Deletion
No
yin_16_ASD_discovery_cases-case450
N/A
N/A
ASD
Cases diagnosed with autistic disorder according to DSM-IV and confirmed by using the Chinese version of ADI-R.
85406648
85451841
45194
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-control110036015030_
N/A
N/A
Control
No previous psychiatric history
81738563
81782378
43816
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlB133359_1007842669
N/A
N/A
Control
No previous psychiatric history
83528305
83583792
55488
GRCh38
Homozygous deletion
No
engchuan_15_ASD_discovery_controls-controlB182205_0057061577
N/A
N/A
Control
No previous psychiatric history
83528305
83588661
60357
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlB246144_1007852649
N/A
N/A
Control
No previous psychiatric history
86518800
86567392
48593
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlB295710_1007841796
N/A
N/A
Control
No previous psychiatric history
83528305
83583792
55488
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlB369176_1007843525
N/A
N/A
Control
No previous psychiatric history
83506305
83583792
77488
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlB472351_1007842232
N/A
N/A
Control
No previous psychiatric history
86552583
86667341
114759
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlB543816_1007853746
N/A
N/A
Control
No previous psychiatric history
80997236
81099338
102103
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlB774739_1007872529
N/A
N/A
Control
No previous psychiatric history
83528305
83583792
55488
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlB787931_1007853911
N/A
N/A
Control
No previous psychiatric history
83528305
83597221
68917
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlHABC_900160_900160
N/A
N/A
Control
No previous psychiatric history
83528305
83583792
55488
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlHABC_900182_900182
N/A
N/A
Control
No previous psychiatric history
81849569
81981085
131517
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlHABC_900246_900246
N/A
N/A
Control
No previous psychiatric history
86134336
86185698
51363
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlHABC_900302_900302
N/A
N/A
Control
No previous psychiatric history
79131788
79188240
56453
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlHABC_900537_900537
N/A
N/A
Control
No previous psychiatric history
78823074
78877121
54048
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlHABC_900638_900638
N/A
N/A
Control
No previous psychiatric history
83692295
83769555
77261
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlHABC_901015_901015
N/A
N/A
Control
No previous psychiatric history
83524449
83583792
59344
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlHABC_901183_901183
N/A
N/A
Control
No previous psychiatric history
83001963
83057869
55907
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlHABC_901262_901262
N/A
N/A
Control
No previous psychiatric history
81335906
81530733
194828
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlHABC_902459_902459
N/A
N/A
Control
No previous psychiatric history
86031153
86090870
59718
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlHABC_902492_902492
N/A
N/A
Control
No previous psychiatric history
83528305
83583792
55488
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlHABC_902495_902495
N/A
N/A
Control
No previous psychiatric history
85227407
85330441
103035
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlHABC_902562_902562
N/A
N/A
Control
No previous psychiatric history
83528305
83583792
55488
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlHABC_902596_902596
N/A
N/A
Control
No previous psychiatric history
83528305
83583792
55488
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlHABC_902795_902795
N/A
N/A
Control
No previous psychiatric history
83528305
83583792
55488
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlHABC_902824_902824
N/A
N/A
Control
No previous psychiatric history
83528305
83583792
55488
GRCh38
Deletion
No
kanduri_15_ASD_discovery_controls-control_split1211
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
87463100
87689856
226757
Unknown
Deletion
No
kanduri_15_ASD_discovery_controls-control_split1932
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
81919202
82102166
182965
Unknown
Deletion
No
kanduri_15_ASD_discovery_controls-control_split437
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
87283152
87463100
179949
Unknown
Deletion
No
kanduri_15_ASD_discovery_controls-control_split474
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
85013168
85172949
159782
Unknown
Deletion
No
kanduri_15_ASD_discovery_controls-control_split902
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
87463100
87689856
226757
Unknown
Deletion
No
kanduri_15_ASD_discovery_controls-control_split963
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
83788742
83791615
2874
Unknown
Deletion
No
nord_11_ASD_discovery_controls-04C27071
Control
80609008
80944734
335727
Unknown
Deletion
nord_11_ASD_discovery_controls-04C28227
Control
82727560
82793057
65498
Unknown
Duplication
sanders_11_ASD_discovery_controls-11168.s1
7.9
M
Control (matched sibling)
NA
NA
79852610
79874399
21790
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11181.s1
4.3
F
Control (matched sibling)
NA
NA
81670167
82043627
373461
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11206.s1
8.3
F
Control (matched sibling)
NA
NA
83528305
83591536
63232
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11274.s1
9.1
M
Control (matched sibling)
NA
NA
83214571
83217480
2910
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11296.s1
14
M
Control (matched sibling)
NA
NA
83214571
83217480
2910
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11323.s1
6.3
F
Control (matched sibling)
NA
NA
83528305
83591536
63232
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11339.s1
11.2
M
Control (matched sibling)
NA
NA
83298750
83792956
494207
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11345.s1
8
M
Control (matched sibling)
NA
NA
85994449
86060107
65659
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11347.s1
17
M
Control (matched sibling)
NA
NA
85284058
85294188
10131
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11400.s1
10.8
F
Control (matched sibling)
NA
NA
80843761
81019613
175853
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11413.s1
13.5
M
Control (matched sibling)
NA
NA
80451957
80465692
13736
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11440.s1
12.5
F
Control (matched sibling)
NA
NA
81380741
81416038
35298
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11453.s1
8.8
F
Control (matched sibling)
NA
NA
83372747
83379558
6812
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11466.s1
7.3
F
Control (matched sibling)
NA
NA
86386940
86598401
211462
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11474.s1
19
M
Control (matched sibling)
NA
NA
83552085
83726274
174190
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11502.s1
13.2
M
Control (matched sibling)
NA
NA
83214571
83217480
2910
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11520.s1
10.8
M
Control (matched sibling)
NA
NA
82726134
82763303
37170
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11520.s1
10.8
M
Control (matched sibling)
NA
NA
83902408
83906605
4198
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11550.s1
6.6
F
Control (matched sibling)
NA
NA
86583547
86686585
103039
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11557.s1
6.8
M
Control (matched sibling)
NA
NA
83214571
83217480
2910
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11563.s1
9.3
F
Control (matched sibling)
NA
NA
81755946
81782378
26433
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11567.s1
7.7
M
Control (matched sibling)
NA
NA
86623216
86810845
187630
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11567.s1
7.7
M
Control (matched sibling)
NA
NA
86873355
86901087
27733
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11578.s1
10.8
M
Control (matched sibling)
NA
NA
84071374
84092301
20928
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11627.s1
8.2
F
Control (matched sibling)
NA
NA
83214571
83217480
2910
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11666.s1
9.1
M
Control (matched sibling)
NA
NA
82612931
82624816
11886
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11700.s1
11
F
Control (matched sibling)
NA
NA
83214571
83217480
2910
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11724.s1
14.5
F
Control (matched sibling)
NA
NA
83588661
83603075
14415
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11794.s1
4.3
F
Control (matched sibling)
NA
NA
83523737
83602744
79008
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11798.s1
7.2
F
Control (matched sibling)
NA
NA
83214571
83217480
2910
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11827.s1
20
F
Control (matched sibling)
NA
NA
85227407
85228572
1166
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11835.s1
8
M
Control (matched sibling)
NA
NA
83528305
83583792
55488
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11855.s1
15.9
F
Control (matched sibling)
NA
NA
83214571
83217480
2910
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11857.s1
12.5
F
Control (matched sibling)
NA
NA
83528305
83583792
55488
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11879.s1
8.1
M
Control (matched sibling)
NA
NA
83528305
83588661
60357
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11894.s1
4.2
M
Control (matched sibling)
NA
NA
85227407
85229952
2546
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11954.s1
6.8
F
Control (matched sibling)
NA
NA
85210829
85227458
16630
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11990.s1
13.4
M
Control (matched sibling)
NA
NA
83792956
83817701
24746
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12037.s1
16.8
M
Control (matched sibling)
NA
NA
83528305
83591492
63188
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12096.s1
9.7
M
Control (matched sibling)
NA
NA
81755946
81782378
26433
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12113.s1
6.5
M
Control (matched sibling)
NA
NA
85227407
85229952
2546
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12304.s1
16.9
M
Control (matched sibling)
NA
NA
83214571
83217480
2910
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12320.s1
23.3
F
Control (matched sibling)
NA
NA
83372747
83379558
6812
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12331.s1
9.6
F
Control (matched sibling)
NA
NA
82873095
82877743
4649
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12337.s1
13.3
M
Control (matched sibling)
NA
NA
81255651
81396707
141057
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-12337.s1
13.3
M
Control (matched sibling)
NA
NA
84071374
84294440
223067
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-12339.s1
12.9
F
Control (matched sibling)
NA
NA
83214571
83217480
2910
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12367.s1
9.3
F
Control (matched sibling)
NA
NA
85227407
85229952
2546
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12409.s1
9
F
Control (matched sibling)
NA
NA
79966768
80007458
40691
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-12420.s1
4.7
F
Control (matched sibling)
NA
NA
83372747
83383942
11196
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12441.s1
10.6
F
Control (matched sibling)
NA
NA
83214571
83217480
2910
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12497.s1
10.8
F
Control (matched sibling)
NA
NA
83516247
83591492
75246
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12515.s1
4.2
M
Control (matched sibling)
NA
NA
82617103
82624816
7714
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-12582.s1
9.2
M
Control (matched sibling)
NA
NA
86652604
86759219
106616
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12582.s1
9.2
M
Control (matched sibling)
NA
NA
83528305
83597221
68917
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12618.s1
6.8
M
Control (matched sibling)
NA
NA
85664215
85675515
11301
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12647.s1
9.1
M
Control (matched sibling)
NA
NA
85227407
85228572
1166
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12669.s1
13.2
M
Control (matched sibling)
NA
NA
83528305
83588661
60357
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12671.s1
17.4
F
Control (matched sibling)
NA
NA
83528305
83583792
55488
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12691.s1
23.8
M
Control (matched sibling)
NA
NA
78631277
78634279
3003
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12708.s1
11.8
F
Control (matched sibling)
NA
NA
85227407
85228572
1166
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12722.s1
6.8
M
Control (matched sibling)
NA
NA
83528305
83591492
63188
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12780.s1
5.9
M
Control (matched sibling)
NA
NA
83372747
83379558
6812
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12785.s1
16.8
F
Control (matched sibling)
NA
NA
83515072
83597221
82150
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12832.s1
4.5
F
Control (matched sibling)
NA
NA
83214571
83217480
2910
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12838.s1
7.1
F
Control (matched sibling)
NA
NA
83214571
83217480
2910
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12892.s1
15.4
F
Control (matched sibling)
NA
NA
81798133
81818557
20425
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12921.s1
6.5
F
Control (matched sibling)
NA
NA
79121692
79138544
16853
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12989.s1
11.4
F
Control (matched sibling)
NA
NA
83528305
83591536
63232
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-13001.s1
7.4
M
Control (matched sibling)
NA
NA
84071374
84092301
20928
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-13048.s1
15.6
F
Control (matched sibling)
NA
NA
83214571
83217480
2910
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-13048.s1
15.6
F
Control (matched sibling)
NA
NA
82708293
82756030
47738
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-13057.s1
4.2
F
Control (matched sibling)
NA
NA
85227407
85228572
1166
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-13159.s1
13.6
M
Control (matched sibling)
NA
NA
84177275
84213801
36527
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-13162.s1
6.7
F
Control (matched sibling)
NA
NA
78440355
78445592
5238
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-13174.s1
12.8
M
Control (matched sibling)
NA
NA
83528305
83591492
63188
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-13226.s1
10.3
F
Control (matched sibling)
NA
NA
83528305
83588661
60357
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-13322.s1
14.3
F
Control (matched sibling)
NA
NA
85227407
85228572
1166
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-13324.s1
16.3
M
Control (matched sibling)
NA
NA
81755946
81791630
35685
GRCh38
Deletion
No
Cases
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
brandler_18_ASD_discovery_cases-caseMT_45.3
SNP VCF
De novo
davis_09_ASD_discovery_cases-AU1376302
Unknown
Unknown
Unknown
0 genes
engchuan_15_ASD_discovery_cases-case13014_193
Unknown
engchuan_15_ASD_discovery_cases-case13053_633
Unknown
HNRNPA1P31,PWWP2AP1
engchuan_15_ASD_discovery_cases-case14109_1970
Unknown
engchuan_15_ASD_discovery_cases-case14143_2410
Unknown
engchuan_15_ASD_discovery_cases-case14179_2900
Unknown
engchuan_15_ASD_discovery_cases-case14179_2900
Unknown
engchuan_15_ASD_discovery_cases-case14203_3290
Unknown
engchuan_15_ASD_discovery_cases-case16029_1571001001
Unknown
BCAS2P3
engchuan_15_ASD_discovery_cases-case20028_1134001
Unknown
engchuan_15_ASD_discovery_cases-case20045_1261001
Unknown
ARF4P4
engchuan_15_ASD_discovery_cases-case20048_1265001
Unknown
PTMAP5
engchuan_15_ASD_discovery_cases-case20160_1432001
Unknown
LINC00351
engchuan_15_ASD_discovery_cases-case3310_3
Unknown
engchuan_15_ASD_discovery_cases-case3615_3
Unknown
LINC00430
engchuan_15_ASD_discovery_cases-case4336_1
Unknown
engchuan_15_ASD_discovery_cases-case4390_1
Unknown
engchuan_15_ASD_discovery_cases-case5107_3
Unknown
engchuan_15_ASD_discovery_cases-case5257_3
Unknown
engchuan_15_ASD_discovery_cases-case6002_4
Unknown
engchuan_15_ASD_discovery_cases-case6030_6
Unknown
engchuan_15_ASD_discovery_cases-case8497_202
Unknown
girirajan_11_ASD_discovery_cases-Si144
Unknown
Simplex
MTND4P1,MTND5P3,LINC00333
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004365
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
SPRY2,RNU6-61P,HNRNPA1P31,PWWP2AP1,ARF4P4,LINC00377,DPPA3P3,LINC00564,RNU6-77P,HIGD1AP2,GYG1P2,LINC01080,PTMAP5
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004993
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
GYG1P2,RNU6-67P
kanduri_15_ASD_discovery_cases-case3076
De novo
Unknown
Unknown
Intergenic CNV: nearest genes, SLITRK1(dist=659725)
leppa_16_ASD_discovery_cases-AU3127302
Maternal
Multiplex
Not segregated (CNV not present in affected siblings)
SPRY2,RNU6-61P
lesca_12_EP_discovery_cases-caseDZ77
Unknown
Unknown
Unknown
LINC00382
morrow_08_ASD_discovery_cases-case11401
Paternal
NA
NA
3' end of SLITRK1
morrow_08_ASD_discovery_cases-case5201
Maternal
NA
NA
3' end of SLITRK1
nord_11_ASD_discovery_cases-256-1
Maternal
0 genes
pinto_10_ASD_discovery_cases-case5107_3
Agilent1M
maternal
NA
NA
prasad_12_ASD_discovery_cases-case139324
Unknown
Unknown
Unknown
0 genes
prasad_12_ASD_discovery_cases-case146446L
Unknown
Unknown
Unknown
0 genes
prasad_12_ASD_discovery_cases-case67953L
Unknown
Unknown
Unknown
0 genes
prasad_12_ASD_discovery_cases-case77203
Unknown
Unknown
Unknown
0 genes
prasad_12_ASD_discovery_cases-case77203
Unknown
Unknown
Unknown
0 genes
prasad_12_ASD_discovery_cases-case77405L
Unknown
Unknown
Unknown
0 genes
prasad_12_ASD_discovery_cases-case85750
Unknown
Unknown
Unknown
0 genes
salyakina_11_ASD_discovery_cases-17142_001
qPCR
Paternal
Multiplex
Not segregated
RNF219-AS1
salyakina_11_ASD_discovery_cases-17142_101
qPCR
Paternal
Multiplex
Not segregated
RNF219-AS1
salyakina_11_ASD_discovery_cases-17142_106
qPCR
Maternal
Simplex
Unknown
RNF219-AS1
sanders_11_ASD_discovery_cases-11027.p1
Paternal
Simplex (quad-proband matched)
Segregated
sanders_11_ASD_discovery_cases-11030.p1
Paternal
Simplex (quad-proband matched)
Segregated
sanders_11_ASD_discovery_cases-11037.p1
Maternal
Simplex (quad-proband matched)
Segregated
sanders_11_ASD_discovery_cases-11092.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11168.p1
Maternal
Simplex (quad-proband matched)
Not segregated
LINC00382
sanders_11_ASD_discovery_cases-11181.p1
Maternal
Simplex (quad-proband matched)
Not segregated
PTMAP5
sanders_11_ASD_discovery_cases-11206.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11274.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11297.p1
Maternal
Simplex (trio)
NA
sanders_11_ASD_discovery_cases-11300.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11301.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11323.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11333.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11347.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11352.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11396.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11440.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11466.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11518.p1
Both parents
Simplex (quad-proband matched)
Segregated
sanders_11_ASD_discovery_cases-11520.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11557.p1
Unknown
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11567.p1
Paternal
Simplex (quad-proband matched)
Not segregated
TXNL1P1
sanders_11_ASD_discovery_cases-11578.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11609.p1
Maternal
Simplex (trio)
NA
sanders_11_ASD_discovery_cases-11665.p1
Paternal
Simplex (quad-proband matched)
Not segregated
LINC00382
sanders_11_ASD_discovery_cases-11677.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11680.p1
Both parents
Simplex (trio)
NA
sanders_11_ASD_discovery_cases-11709.p1
Paternal
Simplex (trio)
NA
sanders_11_ASD_discovery_cases-11724.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11765.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11782.p1
Paternal
Simplex (trio)
NA
PTMAP5
sanders_11_ASD_discovery_cases-11806.p1
Maternal
Simplex (trio)
NA
sanders_11_ASD_discovery_cases-11809.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11810.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11835.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11893.p1
Paternal
Simplex (quad-proband unmatched)
Unknown
sanders_11_ASD_discovery_cases-11911.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11989.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11995.p1
Maternal
Simplex (trio)
NA
sanders_11_ASD_discovery_cases-12001.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12026.p1
Maternal
Simplex (trio)
NA
sanders_11_ASD_discovery_cases-12033.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12093.p1
Maternal
Simplex (trio)
NA
sanders_11_ASD_discovery_cases-12096.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12103.p1
Maternal
Simplex (quad-proband unmatched)
Unknown
sanders_11_ASD_discovery_cases-12184.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12210.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12231.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12239.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12297.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12310.p1
Maternal
Simplex (trio)
NA
sanders_11_ASD_discovery_cases-12310.p1
Maternal
Simplex (trio)
NA
sanders_11_ASD_discovery_cases-12320.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12346.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12360.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12379.p1
Maternal
Simplex (trio)
NA
sanders_11_ASD_discovery_cases-12390.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12392.p1
Maternal
Simplex (trio)
NA
sanders_11_ASD_discovery_cases-12407.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12420.p1
Both parents
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12420.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12430.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12438.p1
Both parents
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12444.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12462.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12483.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12497.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12505.p1
Maternal
Simplex (trio)
NA
sanders_11_ASD_discovery_cases-12536.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12555.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12582.p1
Maternal
Simplex (quad-proband matched)
Not segregated
TXNL1P1
sanders_11_ASD_discovery_cases-12582.p1
Unknown
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12582.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12647.p1
Both parents
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12669.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12742.p1
Maternal
Simplex (trio)
NA
sanders_11_ASD_discovery_cases-12749.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12785.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12832.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12894.p1
Both parents
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12948.p1
Paternal
Simplex (trio)
NA
sanders_11_ASD_discovery_cases-13001.p1
Maternal
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-13019.p1
Maternal
Simplex (trio)
NA
sanders_11_ASD_discovery_cases-13033.p1
Paternal
Simplex (trio)
NA
sanders_11_ASD_discovery_cases-13048.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-13048.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-13174.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-13216.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-13226.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-13244.p1
Maternal
Simplex (trio)
NA
sanders_11_ASD_discovery_cases-13301.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-13322.p1
Both parents
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-13324.p1
Maternal
Simplex (quad-proband matched)
Not segregated
yin_16_ASD_discovery_cases-case450
Unknown
Unknown
Unknown
LINC00351
Controls
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
engchuan_15_ASD_discovery_controls-control110036015030_
Unknown
engchuan_15_ASD_discovery_controls-controlB133359_1007842669
Unknown
engchuan_15_ASD_discovery_controls-controlB182205_0057061577
Unknown
engchuan_15_ASD_discovery_controls-controlB246144_1007852649
Unknown
engchuan_15_ASD_discovery_controls-controlB295710_1007841796
Unknown
engchuan_15_ASD_discovery_controls-controlB369176_1007843525
Unknown
engchuan_15_ASD_discovery_controls-controlB472351_1007842232
Unknown
engchuan_15_ASD_discovery_controls-controlB543816_1007853746
Unknown
LINC00377
engchuan_15_ASD_discovery_controls-controlB774739_1007872529
Unknown
engchuan_15_ASD_discovery_controls-controlB787931_1007853911
Unknown
engchuan_15_ASD_discovery_controls-controlHABC_900160_900160
Unknown
engchuan_15_ASD_discovery_controls-controlHABC_900182_900182
Unknown
engchuan_15_ASD_discovery_controls-controlHABC_900246_900246
Unknown
engchuan_15_ASD_discovery_controls-controlHABC_900302_900302
Unknown
BCAS2P3
engchuan_15_ASD_discovery_controls-controlHABC_900537_900537
Unknown
HSPD1P8
engchuan_15_ASD_discovery_controls-controlHABC_900638_900638
Unknown
engchuan_15_ASD_discovery_controls-controlHABC_901015_901015
Unknown
engchuan_15_ASD_discovery_controls-controlHABC_901183_901183
Unknown
engchuan_15_ASD_discovery_controls-controlHABC_901262_901262
Unknown
engchuan_15_ASD_discovery_controls-controlHABC_902459_902459
Unknown
engchuan_15_ASD_discovery_controls-controlHABC_902492_902492
Unknown
engchuan_15_ASD_discovery_controls-controlHABC_902495_902495
Unknown
engchuan_15_ASD_discovery_controls-controlHABC_902562_902562
Unknown
engchuan_15_ASD_discovery_controls-controlHABC_902596_902596
Unknown
engchuan_15_ASD_discovery_controls-controlHABC_902795_902795
Unknown
engchuan_15_ASD_discovery_controls-controlHABC_902824_902824
Unknown
kanduri_15_ASD_discovery_controls-control_split1211
Unknown
Intergenic CNV: nearest genes, SLITRK6(dist=1089617),MIR4500HG(dist=406386)
kanduri_15_ASD_discovery_controls-control_split1932
Unknown
Intergenic CNV: nearest genes, SPRY2(dist=1004116)
kanduri_15_ASD_discovery_controls-control_split437
Unknown
Intergenic CNV: nearest genes, SLITRK6(dist=909669),MIR4500HG(dist=633142)
kanduri_15_ASD_discovery_controls-control_split474
Unknown
LINC00333 (non-coding RNA, exonic)
kanduri_15_ASD_discovery_controls-control_split902
Unknown
Intergenic CNV: nearest genes, SLITRK6(dist=1089617),MIR4500HG(dist=406386)
kanduri_15_ASD_discovery_controls-control_split963
Unknown
Intergenic CNV: nearest genes, SLITRK1(dist=659725)
nord_11_ASD_discovery_controls-04C27071
0 genes
nord_11_ASD_discovery_controls-04C28227
0 genes
sanders_11_ASD_discovery_controls-11168.s1
Maternal
Simplex (quad)
NA
LINC00382
sanders_11_ASD_discovery_controls-11181.s1
Maternal
Simplex (quad)
NA
PTMAP5
sanders_11_ASD_discovery_controls-11206.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11274.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11296.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11323.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11339.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11345.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11347.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11400.s1
Paternal
Simplex (quad)
NA
ARF4P4
sanders_11_ASD_discovery_controls-11413.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11440.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11453.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11466.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11474.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11502.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11520.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11520.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11550.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11557.s1
Unknown
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11563.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11567.s1
Paternal
Simplex (quad)
NA
TXNL1P1
sanders_11_ASD_discovery_controls-11567.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11578.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11627.s1
Both parents
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11666.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11700.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11724.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11794.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11798.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11827.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11835.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11855.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11857.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11879.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11894.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11954.s1
Unknown
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11990.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12037.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12096.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12113.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12304.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12320.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12331.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12337.s1
Paternal
Simplex (quad)
NA
RNU6-77P,HIGD1AP2
sanders_11_ASD_discovery_controls-12337.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12339.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12367.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12409.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12420.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12441.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12497.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12515.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12582.s1
Maternal
Simplex (quad)
NA
TXNL1P1
sanders_11_ASD_discovery_controls-12582.s1
Both parents
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12618.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12647.s1
Both parents
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12669.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12671.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12691.s1
Paternal
Simplex (quad)
NA
RNF219
sanders_11_ASD_discovery_controls-12708.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12722.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12780.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12785.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12832.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12838.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12892.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12921.s1
Both parents
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12989.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-13001.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-13048.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-13048.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-13057.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-13159.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-13162.s1
Paternal
Simplex (quad)
NA
RNF219-AS1
sanders_11_ASD_discovery_controls-13174.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-13226.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-13322.s1
Both parents
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-13324.s1
Maternal
Simplex (quad)
NA
No Animal Model Data Available