14q31.3CNV Type: Deletion-Duplication
Largest CNV size: 294507 bp
Statistics Box:
Number of Reports: 16
Number of Reports: 16
Summary Information
Summary statement in development
Additional Locus Information
References
Major Reports
Title
Author, Year
Report Class
CNV Type
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
Identification of small exonic CNV from whole-exome sequence data and application to autism spectrum disorder.
Deletion
Minor Reports
Title
Author, Year
Report Class
CNV Type
Rare structural variation of synapse and neurotransmission genes in autism.
Deletion
Novel copy number variants in children with autism and additional developmental anomalies.
Deletion
Multiple recurrent de novo CNVs, including duplications of the 7q11.23 Williams syndrome region, are strongly associated with autism.
Deletion-Duplication
Genetic and functional analyses of SHANK2 mutations suggest a multiple hit model of autism spectrum disorders.
Deletion
A discovery resource of rare copy number variations in individuals with autism spectrum disorder.
Deletion-Duplication
Refinement and discovery of new hotspots of copy-number variation associated with autism spectrum disorder.
Duplication
Copy number variation in Han Chinese individuals with autism spectrum disorder.
Deletion
Performance of case-control rare copy number variation annotation in classification of autism.
Deletion-Duplication
The landscape of copy number variations in Finnish families with autism spectrum disorders.
Deletion
Copy-number variations are enriched for neurodevelopmental genes in children with developmental coordination disorder.
Deletion
Copy number variation analysis of patients with intellectual disability from North-West Spain.
Duplication
Cases
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
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
182489
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
177465
7
1
8
gai_11_ASD_replication_cases
Replication case samples derived from AGRE sets 1-3
593
Idiopathic autism; cases designated as 'spectrum' and 'not quite autism' excluded, as were cases with known genetic syndromes or other non-idiopathic causes
313292
2
0
2
gazzellone_14_ASD_discovery_cases
ASD-affected individuals referred to the Children Development and Behavior Research Center (CDRBC) at Harbin Medical University, China, between January 2007 and June 2011.
104
Diagnosis of ASD made using Autism Behavior Checklist (ABC) and Childhood Autism Rating Scale (CARS)
Mean age at enrollment, 4.31 1.80 yrs.
87.5% Male
91016
1
0
1
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
294000
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
352420
0
1
1
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
22975
1
0
1
krumm_15_ASD_discovery_cases
Probands from the Simons Simplex Collection
2377
Diagnosis of ASD
N/A
N/A
174965
0
1
1
leblond_12_ASD_replication_cases
Dataset featuring ASD patients from the Autism Genome Project carrying de novo SHANK2 deletions previously identified by Pinto et al. 2010. CNV validation information taken from Pinto report.
2
1 patient diagnosed with autism, 1 patient diagnosed with PDD-NOS.
NA
100% Male
22818
1
0
1
maini_18_ASD/DD/ID_discovery_cases
Patients evaluated at the Clinical Genetics Unit of Arcispedale Santa Maria Nuova, AUSL-IRCCS of Reggio Emilia that were investigated through aCGH between 2005 and 2016
293
Cases presented with one or more neurodevelopmental disorders (NDD), multiple congenital anomalies (MCA), and/or dysmorphic features. Most frequent neurodevelopmental diagnoses include language delay (78.5%), intellectual disability (66.4%), motor delay (50.7%), and ASD (13.9%); dysmorphic features were also frequently observed (52.7%)
Mean age, 7 yrs. (range, 1 mo.-29 yrs.)
57.5% Male
3000000
1
0
1
mosca_16_DCD_discovery_cases
Participants recruited as part of a multidisciplinary study at the Alberta Children's Hospital (Calgary, Alberta, Canada)
82
All cases met diagnostic criteria for developmental coordination disorder (DCD) with or without co-occurring ADHD and/or reading disorder.
Range, 8-17 years (Mean, 10.06 2.92 yrs.)
N/A
45590
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
91635
2
0
2
poultney_13_ASD_discovery_cases
ASD cases of European ancestry from AGRE retained after filtering (original cohort size of 432 cases)
299
Cases diagnosed with ASD
N/A
79.86% Male (before filtering)
16021
2
0
2
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
75798
4
3
7
quintela_17_DD/ID_discovery_cases
Galician (NW Spain) patients recruited from the Complexo Hospitalario Universitario de Santiago de Compostela and referred to the Fundacion Publica Galega de Medicina Xenomica for genetic study
573
All participants had a clinical diagnosis of idiopathic intellectual disability (ID) or global developmental delay (DD) with or without another medical condition [e.g. autism spectrum disorder (ASD), attention deficit hyperactivity disorder (ADHD), epilepsy, dysmorphic features, and/or congenital anomalies]
Range, 3 months-18 years
60.38% Male
300358
0
2
2
sanders_11_ASD_discovery_cases
Autistic probands from the Simons Simplex Collection (SSC). 872 probands in quartet families, 272 probands in trios.
1124
ASD diagnosis: 89.5% autism; 8.5% PDD-NOS, 2% Asperger syndrome. Mean full-scale IQ 85.1 1.5 (mean verbal IQ, 81.9 1.7; mean non-verbal IQ, 88.4 1.4)
Mean, 9.1 yrs.
86.1% Male
294507
77
3
80
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
224326
10
3
13
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
22975
6
0
6
krumm_15_ASD_discovery_controls
Unaffected siblings from quad families from the Simons Simplex Collection
1786
Control
N/A
N/A
13147
2
0
2
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.
12828
1
0
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)
0
0
0
0
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)
75798
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.
100912
75
0
75
Cases
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
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
gai_11_ASD_replication_cases
European
Solid phase hybridization
Illumina Infinium II HumanHap550 BeadChip
BeadStudio 3.0
None
gazzellone_14_ASD_discovery_cases
Han Chinese
Array SNP
Affymetrix CytoScan HD
ChAS, iPattern, Nexus, Partek
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
kanduri_15_ASD_discovery_cases
Finnish
Solid phase hybridization
Illumina Human OmniExpress-12v1.0 BeadChip
QuantiSNP, PennCNV
Illumina BeadStudio
None
krumm_15_ASD_discovery_cases
N/A
WES
CoNIFER, XHMM
Solid phase hybridization (Illumina 1M, 1 M Duo, or Omni 2.5)
leblond_12_ASD_replication_cases
1 Canadian, 1 French
Solid phase hybridization
Illumina 1M SNP array
QuantiSNP, PennCNV
None
maini_18_ASD/DD/ID_discovery_cases
Italian
aCGH, array SNP
Multiple platforms, including Agilent and Affymetrix arrays (8x60K oligochips since 2012)
None
mosca_16_DCD_discovery_cases
Canada
Solid phase hybridization
Illumina HumanOmni2.5-Quad BeadChip
iPattern, PennCNV, QuantiSNP, CNVPartition
None
pinto_10_ASD_discovery_cases
European
Solid phase hybridization
Illumina Infinium 1M SNP microarray
QuantiSNP, iPattern
qPCR, long-range PCR (LR-PCR), MLPA, FISH, aCGH (Agilent 1M), array SNP (Affymetrix 500K)
poultney_13_ASD_discovery_cases
European
WES
Agilent SureSelect Human All Exon v.2
XHMM
qPCR
prasad_12_ASD_discovery_cases
Canada
aCGH
Agilent 1M
ADM-2, DNAcopy (R Bioconductor)
DNA Analytics v4.0.85 (Agilent), DNAcopy
None
quintela_17_DD/ID_discovery_cases
North West Spain
Array SNP
Affymetrix Cytogenetics Whole-Genome 2M SNP array, Affymetrix CytoScan HD
Affymetrix ChAS v.1.2.2
None
sanders_11_ASD_discovery_cases
White non-Hispanic, 74.5%; mixed, 9.3%, Asian, 4.3%, White Hispanic, 4.0%, African-American, 3.8%; other, 4.2&
Solid phase hybridization
Illumina 1M v1, Illumina 1M v3
PennCNV, QuantiSNP, GNOSIS
Controls
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
engchuan_15_ASD_discovery_controls
Caucasian
Solid phase hybridization
Illumina 1M
None
kaminsky_11_DD/ID/ASD_discovery_controls
NA
aCGH
Agilent 44K, Agilent 105K
Feature Extraction, DNA Analytics
kanduri_15_ASD_discovery_controls
Finnish
Solid phase hybridization
Illumina Infinium HD Human610-Quad BeadChip
QuantiSNP, PennCNV
Illumina BeadStudio
None
krumm_15_ASD_discovery_controls
N/A
WES
CoNIFER, XHMM
Solid phase hybridization (Illumina 1M, 1 M Duo, or Omni 2.5)
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
prasad_12_ASD_discovery_controls
NA
aCGH
Agilent 1M
ADM-2, DNAcopy (R Bioconductor)
DNA Analytics v4.0.85 (Agilent), DNAcopy
sanders_11_ASD_discovery_controls
Solid phase hybridization
Illumina 1M v1 or Illumina 1M v3
PennCNV, QuantiSNP, GNOSIS
Cases
Patient ID
Author, Year
Age
Gender
Primary Diagnosis
Clinical Profile
Cognitive Profile
CNV Start
CNV End
CNV Size
Genome Build
Type Method
Validation
davis_09_ASD_discovery_cases-AU005303
NA
NA
Syndromic ASD
Diagnosis: autism. Syndromic autism features: alopecia, areata. Family history: father with symptoms of OCD and ADHD
86685467
86867956
182489
Unknown
Deletion
No
engchuan_15_ASD_discovery_cases-case14211_3380
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
86420511
86505671
85161
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case20057_1290002
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
85031342
85070100
38759
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case3431_3
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
86003957
86181422
177466
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case5216_3
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
86420511
86512145
91635
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case5242_3
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
87133517
87167735
34219
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case5280_3
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
84789160
84827594
38435
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case5526_3
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
85809263
85843820
34558
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case6269_3
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
87920050
87953014
32965
GRCh38
Deletion
No
gai_11_ASD_replication_cases-AU005303
Autism
86720525
86875657
155133
Unknown
Deletion
No
gai_11_ASD_replication_cases-AU020403
Autism
85584928
85898219
313292
Unknown
Deletion
No
gazzellone_14_ASD_discovery_cases-case656-3
N/A
M
ASD
ASD; no other clinical information provided
N/A
86889136
86980152
91017
GRCh38
Deletion
No
girirajan_13a_ASD_discovery_cases-11181.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
88703903
88993903
290001
GRCh38
Duplication
No
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001884
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
88680251
89032671
352421
GRCh38
Duplication
Yes
kanduri_15_ASD_discovery_cases-case1964
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.
86458414
86481388
22975
Unknown
Deletion
No
krumm_15_ASD_discovery_cases-case11181.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
88702445
88877410
174966
GRCh38
Duplication
Yes
leblond_12_ASD_replication_cases-Pintocase5237_3
NA
M
Autism
Diagnosis of autism based on ADI-R and ADOS. Language and communication evaluation: below average language (<1st %ile). Epilepsy/seizures: no history of epilepsy. Dysmorphic features: minor, including 5th finger clinodactyly and several curled toes.
Below average non-verbal IQ (<1st %ile)
85821003
85843820
22818
GRCh38
Deletion
No
maini_18_ASD/DD/ID_discovery_cases-case53
5 yrs.
F
Developmental delay and intellectual disability
Birth history: born at 41 weeks gestation, no reported pregnancy anomalies. Developmental milestones: motor delay, language delay. Language and communication evaluation: language disorder. Behavioral/psychiatric evaluation: no reported behavioral or psychiatric abnormalities. Epilepsy/abnormal EEG: no reported epilepsy or EEG abnormalities. Additional medical history: cerebral malformations, neurological anomalies, ocular anomalies, skin anomalies. Dysmorphic features: straight eyebrows, long eyelashes, anteverted nares. Growth parameters: normal head circumference, normal growth. Family history: negative for consanguineity, negative for familiarity, family history negative for NDDs.
Mild intellectual disability
86335172
89320879
2985708
GRCh38
Deletion
No
mosca_16_DCD_discovery_cases-case111903
N/A
F
DCD (with or without ADHD and/or RD)
Ancestry: unknown. Family history: maternal diagnosis unknown; paternal diagnosis unknown.
85386072
85431661
45590
GRCh38
Deletion
No
pinto_10_ASD_discovery_cases-case5216_3
NA
M
ASD
NA
NA
86420511
86512145
91635
GRCh38
Deletion
Yes
pinto_10_ASD_discovery_cases-case5526_3
NA
M
ASD
NA
NA
85809263
85843820
34558
GRCh38
Deletion
Yes
poultney_13_ASD_discovery_cases-case04HI3101A
N/A
M
ASD
ASD case from AGRE (AGRE ID AU0976302; NDAR ID NDAR_INVGE211ABY)
87934730
87950750
16021
GRCh38
Deletion
No
poultney_13_ASD_discovery_cases-case98HI0646A
N/A
M
ASD
ASD case from AGRE (AGRE ID AU041905; NDAR ID NDAR_INVXB532PBE)
87934730
87950750
16021
GRCh38
Deletion
Yes
prasad_12_ASD_discovery_cases-case113499L
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
84309026
84359442
50417
Unknown
Duplication
No
prasad_12_ASD_discovery_cases-case114961L
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
88825173
88838570
13398
Unknown
Duplication
No
prasad_12_ASD_discovery_cases-case66673
NA
F
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
84488357
84518508
30152
Unknown
Duplication
No
prasad_12_ASD_discovery_cases-case68785
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
85617269
85641450
24182
Unknown
Deletion
No
prasad_12_ASD_discovery_cases-case87471
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
86679035
86714953
35919
Unknown
Deletion
No
prasad_12_ASD_discovery_cases-case90412
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
85959608
86035405
75798
Unknown
Deletion
No
prasad_12_ASD_discovery_cases-case94755
NA
F
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
85617269
85641450
24182
Unknown
Deletion
No
quintela_17_DD/ID_discovery_cases-caseID_124
12 yrs.
M
Intellectual disability
Dysmorphic facial features
Intellectual disability
88697659
88998016
300358
GRCh38
Duplication
No
quintela_17_DD/ID_discovery_cases-caseID_302
15 yrs.
M
Intellectual disability
Behavioral problems
Mild intellectual disability
88712388
89004226
291839
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11053.p1
5.1
M
Autism
NA
Full-scale IQ, 84; non-verbal IQ, 92; verbal IQ, 77
85821003
85843820
22818
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11077.p1
12.2
M
Autism
NA
Full-scale IQ, 33; non-verbal IQ, 36; verbal IQ, 26
85821003
85843820
22818
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11101.p1
5.2
M
Autism
NA
Full-scale IQ, 46; non-verbal IQ, 57; verbal IQ, 38
85992070
86022749
30680
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11146.p1
10.6
M
Autism
NA
Full-scale IQ, 85; non-verbal IQ, 87; verbal IQ, 80
85992070
86022749
30680
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11150.p1
7.6
M
Autism
NA
Full-scale IQ, 61; non-verbal IQ, 64; verbal IQ, 67
86081379
86103988
22610
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11181.p1
6.3
M
ASD
NA
Full-scale IQ, 86; non-verbal IQ, 81; verbal IQ, 101
88705182
88999689
294508
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
85992070
86022749
30680
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11188.p1
15.5
M
Autism
NA
Full-scale IQ, 106; non-verbal IQ, 110; verbal IQ 99
85821003
85843820
22818
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11216.p1
4.7
M
ASD
NA
Full-scale IQ, 77; non-verbal IQ, 97; verbal IQ, 57
85992070
86022749
30680
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11218.p1
10.5
M
Autism
NA
Full-scale IQ, 109; non-verbal IQ, 119; verbal IQ, 98
85821003
85843820
22818
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11343.p1
8.3
M
ASD
NA
Full-scale IQ, 87; non-verbal IQ, 90; verbal IQ 87
88781296
88789612
8317
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
85992070
86022749
30680
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
85821003
85843820
22818
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11357.p1
9.5
M
Autism
NA
Full-scale IQ, 106; non-verbal IQ, 112; verbal IQ, 91
85821003
85843820
22818
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11398.p1
12.3
M
Autism
NA
Full-scale IQ, 94; non-verbal IQ, 106; verbal IQ, 77
85992070
86022749
30680
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11401.p1
7.3
M
Autism
NA
Full-scale IQ, 96; non-verbal IQ, 98; verbal IQ, 93
86348382
86355419
7038
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11413.p1
13.4
M
Autism
NA
Full-scale IQ, 95; non-verbal IQ, 104; verbal IQ, 102
85992070
86022749
30680
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11475.p1
7.8
M
Autism
NA
Full-scale IQ, 94; non-verbal IQ, 86; verbal IQ, 110
85821003
85843820
22818
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11501.p1
11.3
M
Autism
NA
Full-scale IQ, 78; non-verbal IQ, 79; verbal IQ, 71
85992070
86022749
30680
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11504.p1
8.2
M
Autism
NA
Full-scale IQ, 112; non-verbal IQ, 108; verbal IQ, 119
85821003
85843820
22818
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11508.p1
8
M
Autism
NA
Full-scale IQ, 78; non-verbal IQ, 83; verbal IQ, 75
85992070
86022749
30680
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11540.p1
8.2
M
Autism
NA
Full-scale IQ, 59; non-verbal IQ, 67; verbal IQ, 55
85992070
86022749
30680
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11572.p1
9.4
M
Autism
NA
Full-scale IQ, 85; non-verbal IQ, 83; verbal IQ, 93
85821003
85843820
22818
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11592.p1
10.1
M
Autism
NA
Full-scale IQ, 115; non-verbal IQ, 109; verbal IQ, 122
85821003
85843820
22818
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11597.p1
12.3
M
Autism
NA
Full-scale IQ, 130; non-verbal IQ, 118; verbal IQ, 128
85821003
85843820
22818
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11615.p1
12.6
M
Autism
NA
Full-scale IQ, 83; non-verbal IQ, 83; verbal IQ, 89
85992070
86022749
30680
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11660.p1
5
F
Autism
NA
Full-scale IQ, 58; non-verbal IQ, 60; verbal IQ, 63
86081176
86103988
22813
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11679.p1
6.4
M
Autism
NA
Full-scale IQ, 97; non-verbal IQ, 106; verbal IQ, 84
85992070
86022749
30680
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11689.p1
13.8
M
Autism
NA
Full-scale IQ, 94; non-verbal IQ, 87; verbal IQ, 107
85821003
85843820
22818
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11721.p1
4.8
M
ASD
NA
Full-scale IQ, 99; non-verbal IQ, 98; verbal IQ, 101
85992070
86022749
30680
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11731.p1
9.1
M
Autism
NA
Full-scale IQ, 72; non-verbal IQ, 82; verbal IQ, 60
89029355
89065766
36412
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11753.p1
17.3
M
Autism
NA
Full-scale IQ, 111; non-verbal IQ, 100; verbal IQ, 128
85821003
85843820
22818
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11794.p1
8.3
M
Autism
NA
Full-scale IQ, 36; non-verbal IQ, 40; verbal IQ, 33
85121406
85128279
6874
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11797.p1
15.3
M
Autism
NA
Full-scale IQ, 118; non-verbal IQ, 117; verbal IQ, 116
85821003
85843820
22818
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11812.p1
8.4
M
Autism
NA
Full-scale IQ, 67; non-verbal IQ, 67; verbal IQ, 77
85821003
85843820
22818
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11827.p1
17.8
M
Autism
NA
Full-scale IQ, 107; non-verbal IQ, 125; verbal IQ, 73
85992070
86022749
30680
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11845.p1
5.2
M
Autism
NA
Full-scale IQ, 47; non-verbal IQ, 56; verbal IQ, 38
85992070
86021785
29716
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11895.p1
7.9
M
Autism
NA
Full-scale IQ, 86; non-verbal IQ, 92; verbal IQ, 79
88974411
88982395
7985
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11905.p1
11.2
M
Autism
NA
Full-scale IQ, 53; non-verbal IQ, 71; verbal IQ, 34
85821003
85843820
22818
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11947.p1
13.1
M
Autism
NA
Full-scale IQ, 31; non-verbal IQ, 33; verbal IQ, 28
85816380
85843820
27441
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12120.p1
5.1
M
Autism
NA
Full-scale IQ, 105; non-verbal IQ, 115; verbal IQ, 85
85992070
86022749
30680
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12121.p1
8.5
M
Autism
NA
Full-scale IQ, 130; non-verbal IQ, 134; verbal IQ, 110
85816380
85843820
27441
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12139.p1
4.3
M
ASD
NA
Full-scale IQ, 98; non-verbal IQ, 106; verbal IQ, 86
88084580
88088265
3686
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12152.p1
8.5
M
Autism
NA
Full-scale IQ, 114; non-verbal IQ, 111; verbal IQ, 118
85821003
85843820
22818
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12185.p1
7.2
M
Autism
NA
Full-scale IQ, 90; non-verbal IQ, 94; verbal IQ, 86
85992070
86022749
30680
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12206.p1
17.1
M
Aspergers
NA
Full-scale IQ, 130; non-verbal IQ, 141; verbal IQ, 113
85992070
86022749
30680
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12208.p1
7.4
M
Autism
NA
Full-scale IQ, 109; non-verbal IQ, 118; verbal IQ, 89
85992070
86022749
30680
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12235.p1
8.8
M
Autism
NA
Full-scale IQ, 79; non-verbal IQ, 78; verbal IQ, 86
85121406
85128279
6874
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12289.p1
12.2
M
ASD
NA
Full-scale IQ, 101; non-verbal IQ, 109; verbal IQ, 86
85821003
85843820
22818
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12314.p1
6.2
M
ASD
NA
Full-scale IQ, 116; non-verbal IQ, 121; verbal IQ, 103
85821003
85843820
22818
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12343.p1
6.2
F
Autism
NA
Full-scale IQ, 30; non-verbal IQ, 42; verbal IQ, 18
88980452
88995002
14551
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12390.p1
6.5
M
Autism
NA
Full-scale IQ, 86; non-verbal IQ, 97; verbal IQ, 75
85992070
86022749
30680
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12409.p1
10.8
M
Autism
NA
Full-scale IQ, 107; non-verbal IQ, 106; verbal IQ, 109
85821003
85843820
22818
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
85821003
85843820
22818
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12434.p1
5.3
M
Autism
NA
Full-scale IQ, 117; non-verbal IQ, 121; verbal IQ, 106
85992070
86022749
30680
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12494.p1
7.9
M
Autism
NA
Full-scale IQ, 59; non-verbal IQ, 67; verbal IQ, 56
85992070
86022749
30680
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12517.p1
13.4
M
Autism
NA
Full-scale IQ, 34; non-verbal IQ, 41; verbal IQ, 20
85821003
85843820
22818
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12572.p1
14.9
M
Autism
NA
Full-scale IQ, 38; non-verbal IQ, 49; verbal IQ, 31
86081176
86103988
22813
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12628.p1
11.2
M
Autism
NA
Full-scale IQ, 118; non-verbal IQ, 102; verbal IQ, 120
85821003
85851839
30837
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12648.p1
9.8
F
Autism
NA
Full-scale IQ, 97; non-verbal IQ, 96; verbal IQ, 100
85821003
85843820
22818
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12682.p1
9.7
M
Autism
NA
Full-scale IQ, 92; non-verbal IQ, 93; verbal IQ, 92
85821003
85843820
22818
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12723.p1
6.7
M
Autism
NA
Full-scale IQ, 48; non-verbal IQ, 61; verbal IQ, 38
86081176
86103988
22813
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
85821003
85843820
22818
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12744.p1
4.3
F
Autism
NA
Full-scale IQ, 55; non-verbal IQ, 51; verbal IQ, 49
85992070
86022749
30680
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12748.p1
6.4
M
Autism
NA
Full-scale IQ, 92; non-verbal IQ, 95; verbal IQ, 93
85118795
85128279
9485
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12790.p1
7.9
M
Autism
NA
Full-scale IQ, 31; non-verbal IQ, 44; verbal IQ, 18
85121406
85128279
6874
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12836.p1
6.8
M
Autism
NA
Full-scale IQ, 127; non-verbal IQ, 121; verbal IQ, 129
86081176
86103988
22813
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12837.p1
4.2
M
Autism
NA
Full-scale IQ, 89; non-verbal IQ, 92; verbal IQ, 89
85821003
85843820
22818
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12869.p1
5.2
F
Autism
NA
Full-scale IQ, 31; non-verbal IQ, 40; verbal IQ, 22
85821003
85843820
22818
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12888.p1
5.5
M
Autism
NA
Full-scale IQ, 30; non-verbal IQ, 42; verbal IQ, 19
85992070
86022749
30680
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12908.p1
5
F
Autism
NA
Full-scale IQ, 74; non-verbal IQ, 81; verbal IQ, 70
85821003
85843820
22818
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12937.p1
17.3
M
Autism
NA
Full-scale IQ, 35; non-verbal IQ, 40; verbal IQ, 26
87952898
87963950
11053
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12951.p1
15.3
M
Autism
NA
Full-scale IQ, 57; non-verbal IQ, 64; verbal IQ, 44
85821003
85843820
22818
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-13041.p1
7
M
Autism
NA
Full-scale IQ, 98; non-verbal IQ, 102; verbal IQ, 93
85992070
86022749
30680
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-13051.p1
6.9
M
Autism
NA
Full-scale IQ, 105; non-verbal IQ, 105; verbal IQ, 104
85821003
85843820
22818
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-13070.p1
8.9
M
Autism
NA
Full-scale IQ, 86; non-verbal IQ, 96; verbal IQ, 85
85118795
85128279
9485
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
85992070
86022749
30680
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-13088.p1
6
M
Autism
NA
Full-scale IQ, 79; non-verbal IQ, 91; verbal IQ, 67
88179513
88181772
2260
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-13128.p1
11
F
Autism
NA
Full-scale IQ, 98; non-verbal IQ, 104; verbal IQ, 88
85821003
85843820
22818
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
85821003
85843820
22818
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-controlB266804_1007853909
N/A
N/A
Control
No previous psychiatric history
85684919
85909245
224327
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlB300570_1007853574
N/A
N/A
Control
No previous psychiatric history
85821003
85868225
47223
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlB431282_1007873513
N/A
N/A
Control
No previous psychiatric history
84784307
84825141
40835
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlB473026_1007872207
N/A
N/A
Control
No previous psychiatric history
85821003
85883148
62146
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlB811881_1007870375
N/A
N/A
Control
No previous psychiatric history
86643591
86792413
148823
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlB978910_1007853764
N/A
N/A
Control
No previous psychiatric history
86420511
86505671
85161
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlHABC_900212_900212
N/A
N/A
Control
No previous psychiatric history
85821003
85851839
30837
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlHABC_900255_900255
N/A
N/A
Control
No previous psychiatric history
85821003
85851839
30837
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlHABC_900308_900308
N/A
N/A
Control
No previous psychiatric history
86551486
86757278
205793
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlHABC_900522_900522
N/A
N/A
Control
No previous psychiatric history
86412969
86512145
99177
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlHABC_900876_900876
N/A
N/A
Control
No previous psychiatric history
85821003
85851839
30837
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlHABC_901074_901074
N/A
N/A
Control
No previous psychiatric history
87933144
87977321
44178
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlHABC_901080_901080
N/A
N/A
Control
No previous psychiatric history
84784307
84819985
35679
GRCh38
Duplication
No
kanduri_15_ASD_discovery_controls-control_split1056
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
86287347
86306324
18978
Unknown
Deletion
No
kanduri_15_ASD_discovery_controls-control_split1183
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
86287347
86310164
22818
Unknown
Deletion
No
kanduri_15_ASD_discovery_controls-control_split1309
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
88407888
88419358
11471
Unknown
Deletion
No
kanduri_15_ASD_discovery_controls-control_split1551
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
86287347
86310164
22818
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
86458414
86481388
22975
Unknown
Deletion
No
kanduri_15_ASD_discovery_controls-control_split504
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
86460915
86481388
20474
Unknown
Deletion
No
krumm_15_ASD_discovery_controls-control12231.s1
N/A
Female
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
87934731
87947878
13148
GRCh38
Deletion
Yes
krumm_15_ASD_discovery_controls-control12784.s1
N/A
Male
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
87934731
87947878
13148
GRCh38
Deletion
Yes
nord_11_ASD_discovery_controls-04C27275
Control
88415010
88427837
12828
Unknown
Deletion
sanders_11_ASD_discovery_controls-11045.s1
5.1
M
Control (matched sibling)
NA
NA
85990105
86022749
32645
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11046.s1
5.7
M
Control (matched sibling)
NA
NA
85821003
85843820
22818
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11049.s1
9.8
F
Control (matched sibling)
NA
NA
85821003
85843820
22818
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11077.s1
14.8
M
Control (matched sibling)
NA
NA
85821003
85843820
22818
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11216.s1
6.4
M
Control (matched sibling)
NA
NA
85992070
86024268
32199
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11245.s1
14.1
M
Control (matched sibling)
NA
NA
85992070
86022749
30680
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11290.s1
13.4
F
Control (matched sibling)
NA
NA
85992070
86022749
30680
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11327.s1
9.5
F
Control (matched sibling)
NA
NA
85992070
86024268
32199
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11345.s1
8
M
Control (matched sibling)
NA
NA
85816380
85843820
27441
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11347.s1
17
M
Control (matched sibling)
NA
NA
85992070
86022749
30680
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11374.s1
18.1
F
Control (matched sibling)
NA
NA
85992070
86022749
30680
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11398.s1
13.8
M
Control (matched sibling)
NA
NA
85992070
86022749
30680
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11400.s1
10.8
F
Control (matched sibling)
NA
NA
85992070
86022749
30680
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11401.s1
12.2
F
Control (matched sibling)
NA
NA
86348382
86355419
7038
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11413.s1
13.5
M
Control (matched sibling)
NA
NA
85992070
86022749
30680
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11472.s1
10.6
F
Control (matched sibling)
NA
NA
85821003
85843820
22818
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11475.s1
5.5
F
Control (matched sibling)
NA
NA
85821003
85843820
22818
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11476.s1
10.8
F
Control (matched sibling)
NA
NA
85992070
86033755
41686
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11504.s1
5.8
M
Control (matched sibling)
NA
NA
85821003
85843820
22818
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11572.s1
14.3
F
Control (matched sibling)
NA
NA
85821003
85843820
22818
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11679.s1
4
M
Control (matched sibling)
NA
NA
85992070
86022749
30680
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11718.s1
23.6
F
Control (matched sibling)
NA
NA
85821003
85843820
22818
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11753.s1
15.1
F
Control (matched sibling)
NA
NA
85821003
85843820
22818
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11797.s1
12.2
F
Control (matched sibling)
NA
NA
85821003
85843820
22818
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11812.s1
6.3
F
Control (matched sibling)
NA
NA
85821003
85843820
22818
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11827.s1
20
F
Control (matched sibling)
NA
NA
85992070
86022749
30680
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11845.s1
7.5
F
Control (matched sibling)
NA
NA
85992070
86021785
29716
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11857.s1
12.5
F
Control (matched sibling)
NA
NA
85821003
85843820
22818
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11857.s1
12.5
F
Control (matched sibling)
NA
NA
85121406
85128279
6874
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11905.s1
8.6
F
Control (matched sibling)
NA
NA
85821003
85843820
22818
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11947.s1
14.5
M
Control (matched sibling)
NA
NA
85821003
85843820
22818
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11979.s1
6.3
F
Control (matched sibling)
NA
NA
86420511
86521423
100913
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11989.s1
8.1
F
Control (matched sibling)
NA
NA
85992070
86022749
30680
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12120.s1
7.8
F
Control (matched sibling)
NA
NA
85992070
86022749
30680
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12121.s1
6.5
F
Control (matched sibling)
NA
NA
85821003
85843820
22818
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12162.s1
11
F
Control (matched sibling)
NA
NA
85821003
85843820
22818
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12231.s1
12.3
F
Control (matched sibling)
NA
NA
87928587
87953014
24428
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12235.s1
6.7
M
Control (matched sibling)
NA
NA
85121406
85128279
6874
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12255.s1
14.6
M
Control (matched sibling)
NA
NA
85821003
85843820
22818
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12289.s1
16.3
M
Control (matched sibling)
NA
NA
85821003
85843820
22818
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12296.s1
13.9
M
Control (matched sibling)
NA
NA
85821003
85843820
22818
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12299.s1
9.7
F
Control (matched sibling)
NA
NA
85992070
86022749
30680
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12308.s1
9.6
M
Control (matched sibling)
NA
NA
85121406
85128279
6874
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12331.s1
9.6
F
Control (matched sibling)
NA
NA
85121406
85132372
10967
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12358.s1
6.7
M
Control (matched sibling)
NA
NA
85816380
85843820
27441
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12372.s1
13.5
F
Control (matched sibling)
NA
NA
85821003
85843820
22818
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12375.s1
7.5
F
Control (matched sibling)
NA
NA
85992070
86024268
32199
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12376.s1
14.7
F
Control (matched sibling)
NA
NA
85121406
85128279
6874
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12390.s1
4.3
M
Control (matched sibling)
NA
NA
85992070
86022749
30680
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12409.s1
9
F
Control (matched sibling)
NA
NA
85821003
85843820
22818
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12409.s1
9
F
Control (matched sibling)
NA
NA
85992070
86022749
30680
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12426.s1
4.7
F
Control (matched sibling)
NA
NA
85992070
86038572
46503
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12434.s1
8.8
F
Control (matched sibling)
NA
NA
85992070
86038572
46503
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12517.s1
11.7
M
Control (matched sibling)
NA
NA
85821003
85843820
22818
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12523.s1
4
F
Control (matched sibling)
NA
NA
85821003
85843820
22818
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12536.s1
4.9
F
Control (matched sibling)
NA
NA
85992070
86022749
30680
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12572.s1
6.6
F
Control (matched sibling)
NA
NA
86081176
86103988
22813
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12628.s1
13.6
F
Control (matched sibling)
NA
NA
85821003
85843820
22818
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12664.s1
7.9
M
Control (matched sibling)
NA
NA
85992070
86022749
30680
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12704.s1
6.4
F
Control (matched sibling)
NA
NA
85121406
85128279
6874
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12723.s1
8.7
F
Control (matched sibling)
NA
NA
86081176
86103988
22813
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12735.s1
9.1
M
Control (matched sibling)
NA
NA
85992070
86022749
30680
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12784.s1
8.4
M
Control (matched sibling)
NA
NA
87916754
87953014
36261
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12817.s1
15.7
F
Control (matched sibling)
NA
NA
85821003
85843820
22818
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12832.s1
4.5
F
Control (matched sibling)
NA
NA
85992070
86022749
30680
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12836.s1
4.2
M
Control (matched sibling)
NA
NA
86081176
86103988
22813
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12888.s1
10.5
F
Control (matched sibling)
NA
NA
85992070
86022749
30680
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12951.s1
12.1
M
Control (matched sibling)
NA
NA
85821003
85843820
22818
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12962.s1
8.3
F
Control (matched sibling)
NA
NA
85992070
86022749
30680
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-13007.s1
19.8
F
Control (matched sibling)
NA
NA
85821003
85843820
22818
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-13016.s1
9.5
F
Control (matched sibling)
NA
NA
85821003
85843820
22818
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-13041.s1
9
M
Control (matched sibling)
NA
NA
85992070
86022749
30680
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-13051.s1
9.4
F
Control (matched sibling)
NA
NA
85821003
85843820
22818
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-13077.s1
13.9
M
Control (matched sibling)
NA
NA
85992070
86022749
30680
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-13128.s1
8.8
M
Control (matched sibling)
NA
NA
85821003
85843820
22818
GRCh38
Deletion
No
Cases
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
davis_09_ASD_discovery_cases-AU005303
Unknown
Unknown
Unknown
0 genes
engchuan_15_ASD_discovery_cases-case14211_3380
Unknown
engchuan_15_ASD_discovery_cases-case20057_1290002
Unknown
engchuan_15_ASD_discovery_cases-case3431_3
Unknown
LINC02316,LINC02328
engchuan_15_ASD_discovery_cases-case5216_3
Unknown
engchuan_15_ASD_discovery_cases-case5242_3
Unknown
engchuan_15_ASD_discovery_cases-case5280_3
Unknown
engchuan_15_ASD_discovery_cases-case5526_3
Unknown
engchuan_15_ASD_discovery_cases-case6269_3
Unknown
SHLD2P2,GALC
gai_11_ASD_replication_cases-AU005303
Inherited
0 genes
gai_11_ASD_replication_cases-AU020403
Inherited
0 genes
gazzellone_14_ASD_discovery_cases-case656-3
Unknown
Unknown
Unknown
LINC01148
girirajan_13a_ASD_discovery_cases-11181.p1
Unknown
Simplex
Unknown
RNU4-92P,EML5,TTC8
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001884
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
RNU4-92P,EML5,TTC8
kanduri_15_ASD_discovery_cases-case1964
Paternal
Unknown
Unknown
Intergenic CNV: nearest genes, FLRT2(dist=364144),LOC283585(dist=890734)
krumm_15_ASD_discovery_cases-case11181.p1
Illumina 1M
Paternal
Simplex
Segregated
RNU4-92P,EML5,TTC8
leblond_12_ASD_replication_cases-Pintocase5237_3
Paternal
maini_18_ASD/DD/ID_discovery_cases-case53
De novo
Simplex
Possibly segregated
SHLD2P2,RNU6-835P,GPR65,RNU4-22P,RNU4-92P,MPPE1P1,CAP2P1,LINC01148,LINC02330,SPATA7,LINC02309,LINC02296,GALC,KCNK10,PTPN21,ZC3H14,EML5,TTC8,LINC01146,FOXN3
mosca_16_DCD_discovery_cases-case111903
Unknown
Unknown
Unknown
LINC02329,LINC00911
pinto_10_ASD_discovery_cases-case5216_3
Agilent1M
maternal
NA
NA
pinto_10_ASD_discovery_cases-case5526_3
Agilent1M
paternal
NA
NA
poultney_13_ASD_discovery_cases-case04HI3101A
Unknown
Unknown (likely multiplex/AGRE)
Unknown
GALC
poultney_13_ASD_discovery_cases-case98HI0646A
qPCR
Unknown
Unknown (likely multiplex/AGRE)
Unknown
GALC
prasad_12_ASD_discovery_cases-case113499L
Unknown
Unknown
Unknown
0 genes
prasad_12_ASD_discovery_cases-case114961L
Unknown
Unknown
Unknown
FOXN3
prasad_12_ASD_discovery_cases-case66673
Unknown
Multiplex
Unknown
0 genes
prasad_12_ASD_discovery_cases-case68785
Unknown
Unknown
Unknown
0 genes
prasad_12_ASD_discovery_cases-case87471
Unknown
Unknown
Unknown
0 genes
prasad_12_ASD_discovery_cases-case90412
Unknown
Unknown
Unknown
0 genes
prasad_12_ASD_discovery_cases-case94755
Unknown
Unknown
Unknown
0 genes
quintela_17_DD/ID_discovery_cases-caseID_124
Unknown
Unknown
RNU4-92P,EML5,TTC8
quintela_17_DD/ID_discovery_cases-caseID_302
Unknown
Unknown
RNU4-92P,EML5,TTC8
sanders_11_ASD_discovery_cases-11053.p1
Paternal
Simplex (quad-proband matched)
Segregated
sanders_11_ASD_discovery_cases-11077.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11101.p1
Paternal
Simplex (quad-proband matched)
Not segregated
LINC02316,LINC02328
sanders_11_ASD_discovery_cases-11146.p1
Maternal
Simplex (quad-proband matched)
Not segregated
LINC02316,LINC02328
sanders_11_ASD_discovery_cases-11150.p1
Maternal
Simplex (quad-proband matched)
Not segregated
LINC02328
sanders_11_ASD_discovery_cases-11181.p1
Paternal
Simplex (quad-proband matched)
Not segregated
RNU4-92P,EML5,TTC8
sanders_11_ASD_discovery_cases-11181.p1
Maternal
Simplex (quad-proband matched)
Segregated
LINC02316,LINC02328
sanders_11_ASD_discovery_cases-11188.p1
Paternal
Simplex (trio)
NA
sanders_11_ASD_discovery_cases-11216.p1
Paternal
Simplex (quad-proband matched)
Not segregated
LINC02316,LINC02328
sanders_11_ASD_discovery_cases-11218.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11343.p1
Unknown
Simplex (trio)
NA
EML5
sanders_11_ASD_discovery_cases-11347.p1
Maternal
Simplex (quad-proband matched)
Not segregated
LINC02316,LINC02328
sanders_11_ASD_discovery_cases-11352.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11357.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11398.p1
Paternal
Simplex (quad-proband matched)
Not segregated
LINC02316,LINC02328
sanders_11_ASD_discovery_cases-11401.p1
Paternal
Simplex (quad-proband matched)
Not segregated
LINC02309
sanders_11_ASD_discovery_cases-11413.p1
Maternal
Simplex (quad-proband matched)
Not segregated
LINC02316,LINC02328
sanders_11_ASD_discovery_cases-11475.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11501.p1
Paternal
Simplex (quad-proband matched)
Not segregated
LINC02316,LINC02328
sanders_11_ASD_discovery_cases-11504.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11508.p1
Paternal
Simplex (quad-proband unmatched)
Unknown
LINC02316,LINC02328
sanders_11_ASD_discovery_cases-11540.p1
Maternal
Simplex (quad-proband matched)
Not segregated
LINC02316,LINC02328
sanders_11_ASD_discovery_cases-11572.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11592.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11597.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11615.p1
Maternal
Simplex (quad-proband matched)
Not segregated
LINC02316,LINC02328
sanders_11_ASD_discovery_cases-11660.p1
Paternal
Simplex (trio)
NA
LINC02328
sanders_11_ASD_discovery_cases-11679.p1
Paternal
Simplex (quad-proband matched)
Not segregated
LINC02316,LINC02328
sanders_11_ASD_discovery_cases-11689.p1
Paternal
Simplex (trio)
NA
sanders_11_ASD_discovery_cases-11721.p1
Paternal
Simplex (quad-proband matched)
Not segregated
LINC02316,LINC02328
sanders_11_ASD_discovery_cases-11731.p1
Maternal
Simplex (quad-proband matched)
Segregated
sanders_11_ASD_discovery_cases-11753.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11794.p1
Unknown
Simplex (quad-proband matched)
Segregated
sanders_11_ASD_discovery_cases-11797.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11812.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11827.p1
Paternal
Simplex (quad-proband matched)
Not segregated
LINC02316,LINC02328
sanders_11_ASD_discovery_cases-11845.p1
Maternal
Simplex (quad-proband matched)
Not segregated
LINC02316,LINC02328
sanders_11_ASD_discovery_cases-11895.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11905.p1
Both parents
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11947.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12120.p1
Maternal
Simplex (quad-proband matched)
Not segregated
LINC02316,LINC02328
sanders_11_ASD_discovery_cases-12121.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12139.p1
Paternal
Simplex (trio)
NA
LINC01146
sanders_11_ASD_discovery_cases-12152.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12185.p1
Paternal
Simplex (quad-proband matched)
Not segregated
LINC02316,LINC02328
sanders_11_ASD_discovery_cases-12206.p1
Paternal
Simplex (quad-proband matched)
Not segregated
LINC02316,LINC02328
sanders_11_ASD_discovery_cases-12208.p1
Paternal
Simplex (trio)
NA
LINC02316,LINC02328
sanders_11_ASD_discovery_cases-12235.p1
Unknown
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12289.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12314.p1
Both parents
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12343.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12390.p1
Maternal
Simplex (quad-proband matched)
Not segregated
LINC02316,LINC02328
sanders_11_ASD_discovery_cases-12409.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-12434.p1
Maternal
Simplex (quad-proband matched)
Not segregated
LINC02316,LINC02328
sanders_11_ASD_discovery_cases-12494.p1
Paternal
Simplex (quad-proband matched)
Not segregated
LINC02316,LINC02328
sanders_11_ASD_discovery_cases-12517.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12572.p1
Maternal
Simplex (quad-proband matched)
Not segregated
LINC02328
sanders_11_ASD_discovery_cases-12628.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12648.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12682.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12723.p1
Maternal
Simplex (quad-proband matched)
Not segregated
LINC02328
sanders_11_ASD_discovery_cases-12742.p1
Paternal
Simplex (trio)
NA
sanders_11_ASD_discovery_cases-12744.p1
Maternal
Simplex (trio)
NA
LINC02316,LINC02328
sanders_11_ASD_discovery_cases-12748.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12790.p1
Unknown
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12836.p1
Maternal
Simplex
Not segregated
LINC02328
sanders_11_ASD_discovery_cases-12837.p1
Paternal
Simplex
Not segregated
sanders_11_ASD_discovery_cases-12869.p1
Maternal
Simplex
Unknown
sanders_11_ASD_discovery_cases-12888.p1
Maternal
Simplex
Not segregated
LINC02316,LINC02328
sanders_11_ASD_discovery_cases-12908.p1
Both parents
Simplex
Not segregated
sanders_11_ASD_discovery_cases-12937.p1
Paternal
Simplex
Not segregated
SHLD2P2,GALC
sanders_11_ASD_discovery_cases-12951.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-13041.p1
Maternal
Simplex (quad-proband matched)
Not segregated
LINC02316,LINC02328
sanders_11_ASD_discovery_cases-13051.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-13070.p1
Unknown
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-13077.p1
Maternal
Simplex (quad-proband matched)
Not segregated
LINC02316,LINC02328
sanders_11_ASD_discovery_cases-13088.p1
Paternal
Simplex (quad-proband matched)
Not segregated
KCNK10
sanders_11_ASD_discovery_cases-13128.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-13244.p1
Paternal
Simplex (trio)
NA
Controls
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
engchuan_15_ASD_discovery_controls-controlB266804_1007853909
Unknown
engchuan_15_ASD_discovery_controls-controlB300570_1007853574
Unknown
engchuan_15_ASD_discovery_controls-controlB431282_1007873513
Unknown
engchuan_15_ASD_discovery_controls-controlB473026_1007872207
Unknown
engchuan_15_ASD_discovery_controls-controlB811881_1007870375
Unknown
engchuan_15_ASD_discovery_controls-controlB978910_1007853764
Unknown
engchuan_15_ASD_discovery_controls-controlHABC_900212_900212
Unknown
engchuan_15_ASD_discovery_controls-controlHABC_900255_900255
Unknown
engchuan_15_ASD_discovery_controls-controlHABC_900308_900308
Unknown
engchuan_15_ASD_discovery_controls-controlHABC_900522_900522
Unknown
engchuan_15_ASD_discovery_controls-controlHABC_900876_900876
Unknown
engchuan_15_ASD_discovery_controls-controlHABC_901074_901074
Unknown
SHLD2P2,GALC
engchuan_15_ASD_discovery_controls-controlHABC_901080_901080
Unknown
kanduri_15_ASD_discovery_controls-control_split1056
Unknown
Intergenic CNV: nearest genes, FLRT2(dist=193077),LOC283585(dist=1065798)
kanduri_15_ASD_discovery_controls-control_split1183
Unknown
Intergenic CNV: nearest genes, FLRT2(dist=193077),LOC283585(dist=1061958)
kanduri_15_ASD_discovery_controls-control_split1309
Unknown
GALC
kanduri_15_ASD_discovery_controls-control_split1551
Unknown
Intergenic CNV: nearest genes, FLRT2(dist=193077),LOC283585(dist=1061958)
kanduri_15_ASD_discovery_controls-control_split437
Unknown
Intergenic CNV: nearest genes, FLRT2(dist=364144),LOC283585(dist=890734)
kanduri_15_ASD_discovery_controls-control_split504
Unknown
Intergenic CNV: nearest genes, FLRT2(dist=366645),LOC283585(dist=890734)
krumm_15_ASD_discovery_controls-control12231.s1
Illumina 1MDuo
Paternal
GALC
krumm_15_ASD_discovery_controls-control12784.s1
Illumina 1MDuo
Paternal
GALC
nord_11_ASD_discovery_controls-04C27275
0 genes
sanders_11_ASD_discovery_controls-11045.s1
Maternal
Simplex (quad)
NA
LINC02316,LINC02328
sanders_11_ASD_discovery_controls-11046.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11049.s1
Both parents
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11077.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11216.s1
Paternal
Simplex (quad)
NA
LINC02316,LINC02328
sanders_11_ASD_discovery_controls-11245.s1
Paternal
Simplex (quad)
NA
LINC02316,LINC02328
sanders_11_ASD_discovery_controls-11290.s1
Maternal
Simplex (quad)
NA
LINC02316,LINC02328
sanders_11_ASD_discovery_controls-11327.s1
Paternal
Simplex (quad)
NA
LINC02316,LINC02328
sanders_11_ASD_discovery_controls-11345.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11347.s1
Maternal
Simplex (quad)
NA
LINC02316,LINC02328
sanders_11_ASD_discovery_controls-11374.s1
Maternal
Simplex (quad)
NA
LINC02316,LINC02328
sanders_11_ASD_discovery_controls-11398.s1
Paternal
Simplex (quad)
NA
LINC02316,LINC02328
sanders_11_ASD_discovery_controls-11400.s1
Paternal
Simplex (quad)
NA
LINC02316,LINC02328
sanders_11_ASD_discovery_controls-11401.s1
Paternal
Simplex (quad)
NA
LINC02309
sanders_11_ASD_discovery_controls-11413.s1
Maternal
Simplex (quad)
NA
LINC02316,LINC02328
sanders_11_ASD_discovery_controls-11472.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11475.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11476.s1
Paternal
Simplex (quad)
NA
LINC02316,LINC02328
sanders_11_ASD_discovery_controls-11504.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11572.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11679.s1
Paternal
Simplex (quad)
NA
LINC02316,LINC02328
sanders_11_ASD_discovery_controls-11718.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11753.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11797.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11812.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11827.s1
Paternal
Simplex (quad)
NA
LINC02316,LINC02328
sanders_11_ASD_discovery_controls-11845.s1
Maternal
Simplex (quad)
NA
LINC02316,LINC02328
sanders_11_ASD_discovery_controls-11857.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11857.s1
Unknown
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11905.s1
Both parents
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11947.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11979.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11989.s1
Maternal
Simplex (quad)
NA
LINC02316,LINC02328
sanders_11_ASD_discovery_controls-12120.s1
Maternal
Simplex (quad)
NA
LINC02316,LINC02328
sanders_11_ASD_discovery_controls-12121.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12162.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12231.s1
Paternal
Simplex (quad)
NA
SHLD2P2,GALC
sanders_11_ASD_discovery_controls-12235.s1
Unknown
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12255.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12289.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12296.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12299.s1
Maternal
Simplex (quad)
NA
LINC02316,LINC02328
sanders_11_ASD_discovery_controls-12308.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12331.s1
Unknown
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12358.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12372.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12375.s1
Maternal
Simplex (quad)
NA
LINC02316,LINC02328
sanders_11_ASD_discovery_controls-12376.s1
Unknown
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12390.s1
Maternal
Simplex (quad)
NA
LINC02316,LINC02328
sanders_11_ASD_discovery_controls-12409.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12409.s1
Maternal
Simplex (quad)
NA
LINC02316,LINC02328
sanders_11_ASD_discovery_controls-12426.s1
Maternal
Simplex (quad)
NA
LINC02316,LINC02328
sanders_11_ASD_discovery_controls-12434.s1
Maternal
Simplex (quad)
NA
LINC02316,LINC02328
sanders_11_ASD_discovery_controls-12517.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12523.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12536.s1
Maternal
Simplex (quad)
NA
LINC02316,LINC02328
sanders_11_ASD_discovery_controls-12572.s1
Maternal
Simplex (quad)
NA
LINC02328
sanders_11_ASD_discovery_controls-12628.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12664.s1
Maternal
Simplex (quad)
NA
LINC02316,LINC02328
sanders_11_ASD_discovery_controls-12704.s1
Unknown
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12723.s1
Maternal
Simplex (quad)
NA
LINC02328
sanders_11_ASD_discovery_controls-12735.s1
Maternal
Simplex (quad)
NA
LINC02316,LINC02328
sanders_11_ASD_discovery_controls-12784.s1
Paternal
Simplex (quad)
NA
SHLD2P2,GALC
sanders_11_ASD_discovery_controls-12817.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12832.s1
Maternal
Simplex (quad)
NA
LINC02316,LINC02328
sanders_11_ASD_discovery_controls-12836.s1
Maternal
Simplex (quad)
NA
LINC02328
sanders_11_ASD_discovery_controls-12888.s1
Maternal
Simplex (quad)
NA
LINC02316,LINC02328
sanders_11_ASD_discovery_controls-12951.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12962.s1
Maternal
Simplex (quad)
NA
LINC02316,LINC02328
sanders_11_ASD_discovery_controls-13007.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-13016.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-13041.s1
Maternal
Simplex (quad)
NA
LINC02316,LINC02328
sanders_11_ASD_discovery_controls-13051.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-13077.s1
Maternal
Simplex (quad)
NA
LINC02316,LINC02328
sanders_11_ASD_discovery_controls-13128.s1
Maternal
Simplex (quad)
NA
No Animal Model Data Available