3q26.31CNV Type: Deletion-Duplication
Largest CNV size: 56245 bp
Statistics Box:
Number of Reports: 21
Number of Reports: 21
Summary Information
Summary statement in development
Additional Locus Information
References
Major Reports
Title
Author, Year
Report Class
CNV Type
Autism genome-wide copy number variation reveals ubiquitin and neuronal genes.
Duplication
Functional impact of global rare copy number variation in autism spectrum disorders.
Duplication
An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabili...
Deletion
Refinement and discovery of new hotspots of copy-number variation associated with autism spectrum disorder.
Duplication
Microduplications at the pseudoautosomal SHOX locus in autism spectrum disorders and related neurodevelopmental conditions.
Deletion
A large data resource of genomic copy number variation across neurodevelopmental disorders
Deletion
Minor Reports
Title
Author, Year
Report Class
CNV Type
Rare structural variation of synapse and neurotransmission genes in autism.
Deletion-Duplication
Multiple recurrent de novo CNVs, including duplications of the 7q11.23 Williams syndrome region, are strongly associated with autism.
Deletion-Duplication
Rare deletions at the neurexin 3 locus in autism spectrum disorder.
Deletion
Genetic and functional analyses of SHANK2 mutations suggest a multiple hit model of autism spectrum disorders.
Duplication
Epileptic encephalopathies of the Landau-Kleffner and continuous spike and waves during slow-wave sleep types: genomic dissection makes the link wi...
Duplication
A discovery resource of rare copy number variations in individuals with autism spectrum disorder.
Duplication
Prospective diagnostic analysis of copy number variants using SNP microarrays in individuals with autism spectrum disorders.
Duplication
Identification of small exonic CNV from whole-exome sequence data and application to autism spectrum disorder.
Duplication
Genome-wide analysis of copy number variations identifies PARK2 as a candidate gene for autism spectrum disorder.
Deletion
Copy number variation analysis of patients with intellectual disability from North-West Spain.
Duplication
Chromosomal microarray in clinical diagnosis: a study of 337 patients with congenital anomalies and developmental delays or intellectual disability.
Deletion
Cases
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
bitar_19_ASD_discovery_cases
ASD cases selected through specialized institutions and NGOs specializing in mental disorders throughout Lebanon
19
Cases diagnosed with ASD using DSM-IV criteria and CARS
N/A
84.21% Male
159000
1
0
1
cucinotta_23_ASD_discovery_cases
Idiopathic ASD patients from 310 families (263 simplex and 47 multiplex) recruited at the Service for Neurodevelopmental Disorders at Campus Bio-Medico University Hospital in Rome (Italy) and at the Interdepartmental Program Autism 090 of the G. Martino University Hospital (Messina, Italy) between the years 2012 and 2019.
329
Clinical diagnosis of ASD based on fulfilling DSM-5 criteria and confirmed using ADOS-2 and ADI-R.
NA
84.19% Male
24972
0
2
2
gai_11_ASD_replication_cases
Replication case samples derived from AGRE sets 1-3
593
Idiopathic autism; cases designated as 'spectrum' and 'not quite autism' excluded, as were cases with known genetic syndromes or other non-idiopathic causes
119663
1
2
3
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
574850
0
1
1
glessner_09_ASD_discovery_cases
Autism Case-Control (ACC) case cohort: 54% from simplex families, 46% from multiplex families
859
859 autism (ADI). 708 autism, 124 ASD, 27 not autism (based on ADOS)
Range, 2-21
81.8% Male
17597
0
40
40
glessner_09_ASD_replication_cases
Autism Genetic Resource Exchange (AGRE) case cohort: 5% from simplex families, 95% from multiplex families
1336
1202 autism, 134 ASD (AGRE status). 775 autism, 171 ASD, 76 not ASD or autism (based on ADOS)
Mean, 9.2 5.3
78.7% Male
17597
0
74
74
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
640858
1
0
1
krumm_15_ASD_discovery_cases
Probands from the Simons Simplex Collection
2377
Diagnosis of ASD
N/A
N/A
5989
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
49829
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
0
1
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
917000
0
1
1
nava_13_ASD_discovery_cases
Subjects recruited in the Centre de Reference deficiences intellectuelles de causes rares', the 'Centre Diagnostic Autisme', Pitie-Salpetriere Hospital (Paris, France) or the Fondation Lejeune over a period of 3 years (20092011).
194
Cases assessed with ADI-R
N/A
83.5% Male
81544
0
1
1
pinto_10_ASD_discovery_cases
Autism Genome Project (AGP) consortium patient cohort from families with at least two ASD individuals
996
ASD (ADI-R and ADOS): strict, broad, or spectrum ASD
49829
0
1
1
poultney_13_ASD_discovery_cases
ASD cases of European ancestry from AGRE retained after filtering (original cohort size of 432 cases)
299
Cases diagnosed with ASD
N/A
79.86% Male (before filtering)
64947
0
1
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
17356
0
1
1
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
258488
0
1
1
sanders_11_ASD_discovery_cases
Autistic probands from the Simons Simplex Collection (SSC). 872 probands in quartet families, 272 probands in trios.
1124
ASD diagnosis: 89.5% autism; 8.5% PDD-NOS, 2% Asperger syndrome. Mean full-scale IQ 85.1 1.5 (mean verbal IQ, 81.9 1.7; mean non-verbal IQ, 88.4 1.4)
Mean, 9.1 yrs.
86.1% Male
56245
116
52
168
sansovic_17_DD/ID/ASD_discovery_cases
Unrelated patients from Croatia referred to the Department of Medical Genetics and Reproductive Health, Children's Hospital Zagreb, University of Zagreb School of Medicine
337
Cases diagnosed by clinical geneticists or pediatricians to have developmental delay/intellectual disability (DD/ID), ASD, congenital anomalies, or a combination of those features
Mean, 7 years (range, 1 month-25 years)
N/A
1979000
1
0
1
tropeano_16_ASD_discovery_cases
ASD cases from the Maudsley Adult Autism clinic discovery series (Maudsley Hospital, London, United Kingdom)
90
Diagnosis of ASD according to ICD-10 and confirmed using ADOS and ADI-R.
Adult age (20 yrs.+)
N/A
91441
1
0
1
vaags_11_ASD_discovery_cases
Discovery cohort of Canadian individuals with ASD
1158
ASD
NA
NA
14789
1
0
1
yin_16_ASD_discovery_cases
Discovery cohort of ASD cases recruited from the Department of Psychiatry of National Taiwan University Hospital (NTUH), Chang Gung Memorial Hospital (CGMH), Taoyuan, and Taoyuan Mental Hospital (TMH), Taiwan.
335
Cases diagnosed with autistic disorder according to DSM-IV and confirmed by using the Chinese version of ADI-R. Cases' autistic behaviors assessed by Social Responsiveness Scale (SRS), and cognitive functions assessed by the Weschler Intelligence Scale for Children-Third Edition (WISC-III) and the Wisconsin Card Sorting Test (WCST).
Mean, 9.39 4.04 yrs.
89.3% Male
21637
1
0
1
zarrei_19_ASD/ADHD/OCD/SCZ_discovery_cases
Samples with neurodevelopmental disorders (NDDs) mostly from the province of Ontario, Canada
2691
1,838 cases diagnosed with ASD, 427 with ADHD, 204 with schizophrenia, and 222 with OCD
76.37% Male
142488
1
0
1
Controls
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
bacchelli_20_ASD_discovery_controls
Anonymized DNA samples from Italian individuals with no psychiatric disorders
365
Control
N/A
54.52% Male
182154
3
0
3
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
krumm_15_ASD_discovery_controls
Unaffected siblings from quad families from the Simons Simplex Collection
1786
Control
N/A
N/A
0
0
0
0
levy_11_ASD_discovery_controls
Unaffected siblings of autistic probands from 887 families from the Simons Simplex Collection (SSC)
863
Control
47.97% Male
98491
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)
17356
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.
97935
86
39
125
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
21637
0
0
0
Cases
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
bitar_19_ASD_discovery_cases
Lebanon
aCGH
Agilent SurePrint G3 2x400K
ADM-2
Agilent Cytogenomics v.3.0.6.6, Agilent Feature Extraction
qPCR
cucinotta_23_ASD_discovery_cases
Italy
aCGH
Agilent SurePrint 4180K
ADM-2
Agilent Feature Extraction v.10.7., Agilent Cytogenomic Software v.4.0.3.12.
None
gai_11_ASD_replication_cases
European
Solid phase hybridization
Illumina Infinium II HumanHap550 BeadChip
BeadStudio 3.0
None
girirajan_13a_ASD_discovery_cases
NA
aCGH
Custom microarray with a high density of probes targeted to 1,367 regions with a susceptible genomic architecture
ADM-2
Agilent Genomic Workbench
aCGH (NimbleGen 135K array)
glessner_09_ASD_discovery_cases
European
Solid phase hybridization
HumanHap550 BeadChip
PennCNV
qPCR, MLPA, array SNP
glessner_09_ASD_replication_cases
European
Solid phase hybridization
HumanHap550 BeadChip
PennCNV
qPCR, MLPA, array SNP
kaminsky_11_DD/ID/ASD_discovery_cases
NA
aCGH
Agilent 44K, Agilent 105K
Feature Extraction, DNA Analytics
FISH, qPCR, MLPA, aCGH, standard G-banded chromosome analysis
krumm_15_ASD_discovery_cases
N/A
WES
CoNIFER, XHMM
Solid phase hybridization (Illumina 1M, 1 M Duo, or Omni 2.5)
leblond_12_ASD_replication_cases
1 Canadian, 1 French
Solid phase hybridization
Illumina 1M SNP array
QuantiSNP, PennCNV
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
maini_18_ASD/DD/ID_discovery_cases
Italian
aCGH, array SNP
Multiple platforms, including Agilent and Affymetrix arrays (8x60K oligochips since 2012)
None
nava_13_ASD_discovery_cases
France
Solid phase hybridization
Illumina cytoSNP-12, Illumina 660W-Quad, Illumina 370CNV-Quad
GenomeStudio v.2011.1, CNVPartition v.3.1.6
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
None
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
sansovic_17_DD/ID/ASD_discovery_cases
Croatia
aCGH
Agilent SurePrint G3 Unrestricted CGH ISCA v2
Agilent Feature Extraction (v12.0), Agilent CytoGenomics (v3.0 and v4.0)
None
tropeano_16_ASD_discovery_cases
United Kingdom
aCGH
Agilent 60K
ADM-2
Agilent Feature Extraction, Agilent Genomic Workbench
MLPA, aCGH
vaags_11_ASD_discovery_cases
Canadian
aCGH, array SNP, solid phase hybridization
Affymetrix 6.0, Illumina Infinium 1M, Illumina Omni 2.5M, Agilent 1M
None
yin_16_ASD_discovery_cases
Han Chinese
Array SNP
Affymetrix 6.0
Affymetrix Genotyping Console v.4.1
None
zarrei_19_ASD/ADHD/OCD/SCZ_discovery_cases
74.1% European
Array SNP
Affymetrix CytoScan HD
Affymetrix ChAS, iPattern, BioDiscovery Nexus, Partek Genomics Suite
RT-qPCR or WGS
Controls
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
bacchelli_20_ASD_discovery_controls
Italian
Solid phase hybridization
Illumina Infinium PsychArray
PennCNV, QuantiSNP, CNVPartition
None
glessner_09_ASD_discovery_controls
Caucasian
Solid phase hybridization
HumanHap550 BeadChip
PennCNV
glessner_09_ASD_replication_controls
Caucasian
Solid phase hybridization
HumanHap550 BeadChip
PennCNV
kaminsky_11_DD/ID/ASD_discovery_controls
NA
aCGH
Agilent 44K, Agilent 105K
Feature Extraction, DNA Analytics
krumm_15_ASD_discovery_controls
N/A
WES
CoNIFER, XHMM
None
levy_11_ASD_discovery_controls
aCGH
NimbleGen HD2
HMM
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
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
bitar_19_ASD_discovery_cases-case76
N/A
M
ASD, intellectual disability, and epilepsy
Case diagnosed with ASD using DSM-IV criteria and CARS. Behavioral/psychiatric evaluation: fear, anxiety. Epilepsy/seizures: epilepsy. Additional medical history: deafness. Family history: born to non-consanguineous parents; family history not available.
Intellectual disability
175395560
175555278
159719
GRCh38
Deletion
Yes
cucinotta_23_ASD_discovery_cases-case118
NA
NA
ASD
Clinical diagnosis of ASD based on fulfilling DSM-5 criteria and confirmed using ADOS-2 and ADI-R.
173535640
173560611
24972
GRCh38
Duplication
No
cucinotta_23_ASD_discovery_cases-case429
NA
NA
ASD
Clinical diagnosis of ASD based on fulfilling DSM-5 criteria and confirmed using ADOS-2 and ADI-R.
173535640
173560611
24972
GRCh38
Duplication
No
gai_11_ASD_replication_cases-AU011704
Autism
173959113
174078775
119663
Unknown
Duplication
No
gai_11_ASD_replication_cases-AU011705
Autism
173959113
174078775
119663
Unknown
Duplication
No
gai_11_ASD_replication_cases-AU024104
Autism
175672718
175756568
83851
Unknown
Deletion
No
girirajan_13a_ASD_discovery_cases-13697.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
174217888
174792738
574851
GRCh38
Duplication
Yes
glessner_09_ASD_discovery_cases-10453_59504
NA
ASD
NA
NA
173553894
173571491
17598
GRCh38
Duplication
No
glessner_09_ASD_discovery_cases-1083_003
NA
ASD
NA
NA
173553894
173571491
17598
GRCh38
Duplication
No
glessner_09_ASD_discovery_cases-1145_004
NA
ASD
NA
NA
173553894
173571491
17598
GRCh38
Duplication
No
glessner_09_ASD_discovery_cases-1160_005
NA
ASD
NA
NA
173553894
173571491
17598
GRCh38
Duplication
No
glessner_09_ASD_discovery_cases-12690_63391
NA
ASD
NA
NA
173553894
173571491
17598
GRCh38
Duplication
No
glessner_09_ASD_discovery_cases-12751_63574
NA
ASD
NA
NA
173553894
173571491
17598
GRCh38
Duplication
No
glessner_09_ASD_discovery_cases-13724_65457
NA
ASD
NA
NA
173553894
173571491
17598
GRCh38
Duplication
No
glessner_09_ASD_discovery_cases-143454602
NA
ASD
NA
NA
173553894
173571491
17598
GRCh38
Duplication
No
glessner_09_ASD_discovery_cases-17356_73351
NA
ASD
NA
NA
173553894
173571491
17598
GRCh38
Duplication
No
glessner_09_ASD_discovery_cases-18441_74921
NA
ASD
NA
NA
173553894
173571491
17598
GRCh38
Duplication
No
glessner_09_ASD_discovery_cases-2462_003
NA
ASD
NA
NA
173553894
173571491
17598
GRCh38
Duplication
No
glessner_09_ASD_discovery_cases-30005.205
NA
ASD
NA
NA
173553894
173571491
17598
GRCh38
Duplication
No
glessner_09_ASD_discovery_cases-3797499772
NA
ASD
NA
NA
173553894
173571491
17598
GRCh38
Duplication
No
glessner_09_ASD_discovery_cases-3823.202
NA
ASD
NA
NA
173553894
173571491
17598
GRCh38
Duplication
No
glessner_09_ASD_discovery_cases-4546_29387
NA
ASD
NA
NA
173553894
173571491
17598
GRCh38
Duplication
No
glessner_09_ASD_discovery_cases-5071_003
NA
ASD
NA
NA
173553894
173571491
17598
GRCh38
Duplication
No
glessner_09_ASD_discovery_cases-6594_45595
NA
ASD
NA
NA
173553894
173571491
17598
GRCh38
Duplication
No
glessner_09_ASD_discovery_cases-7164992474
NA
ASD
NA
NA
173553894
173571491
17598
GRCh38
Duplication
No
glessner_09_ASD_discovery_cases-8660947515
NA
ASD
NA
NA
173553894
173571491
17598
GRCh38
Duplication
No
glessner_09_ASD_discovery_cases-A219403
NA
ASD
NA
NA
173553894
173571491
17598
GRCh38
Duplication
No
glessner_09_ASD_discovery_cases-AU02003
NA
ASD
NA
NA
173553894
173571491
17598
GRCh38
Duplication
No
glessner_09_ASD_discovery_cases-AU10703
NA
ASD
NA
NA
173553894
173571491
17598
GRCh38
Duplication
No
glessner_09_ASD_discovery_cases-AU13704
NA
ASD
NA
NA
173553894
173571491
17598
GRCh38
Duplication
No
glessner_09_ASD_discovery_cases-AU21104
NA
ASD
NA
NA
173553894
173571491
17598
GRCh38
Duplication
No
glessner_09_ASD_discovery_cases-AU42904
NA
ASD
NA
NA
173553894
173571491
17598
GRCh38
Duplication
No
glessner_09_ASD_discovery_cases-AU43003
NA
ASD
NA
NA
173553894
173571491
17598
GRCh38
Duplication
No
glessner_09_ASD_discovery_cases-AU45804
NA
ASD
NA
NA
173553894
173571491
17598
GRCh38
Duplication
No
glessner_09_ASD_discovery_cases-AU50804
NA
ASD
NA
NA
173553894
173571491
17598
GRCh38
Duplication
No
glessner_09_ASD_discovery_cases-AU72304
NA
ASD
NA
NA
173553894
173571491
17598
GRCh38
Duplication
No
glessner_09_ASD_discovery_cases-B212403
NA
ASD
NA
NA
173553894
173571491
17598
GRCh38
Duplication
No
glessner_09_ASD_discovery_cases-B221003
NA
ASD
NA
NA
173553894
173571491
17598
GRCh38
Duplication
No
glessner_09_ASD_discovery_cases-C205204
NA
ASD
NA
NA
173553894
173571491
17598
GRCh38
Duplication
No
glessner_09_ASD_discovery_cases-C205603
NA
ASD
NA
NA
173553894
173571491
17598
GRCh38
Duplication
No
glessner_09_ASD_discovery_cases-C209603
NA
ASD
NA
NA
173553894
173571491
17598
GRCh38
Duplication
No
glessner_09_ASD_discovery_cases-IC116498
NA
ASD
NA
NA
173553894
173571491
17598
GRCh38
Duplication
No
glessner_09_ASD_discovery_cases-NIMH_157-1116-001_05C48662
NA
ASD
NA
NA
173553894
173571491
17598
GRCh38
Duplication
No
glessner_09_ASD_discovery_cases-NIMH_157-1137-001_06C53420A
NA
ASD
NA
NA
173553894
173571491
17598
GRCh38
Duplication
No
glessner_09_ASD_discovery_cases-NIMH_157-1144-001_06C53895A
NA
ASD
NA
NA
173553894
173571491
17598
GRCh38
Duplication
No
glessner_09_ASD_discovery_cases-NIMH_157-1152-001_06C57345A
NA
ASD
NA
NA
173553894
173571491
17598
GRCh38
Duplication
No
glessner_09_ASD_discovery_cases-UWash_GS_200711180_3638
NA
ASD
NA
NA
173553894
173571491
17598
GRCh38
Duplication
No
glessner_09_ASD_replication_cases-AU002204
NA
ASD
NA
NA
173553894
173571491
17598
GRCh38
Duplication
No
glessner_09_ASD_replication_cases-AU0081303
NA
ASD
NA
NA
173553894
173571491
17598
GRCh38
Duplication
No
glessner_09_ASD_replication_cases-AU008804
NA
ASD
NA
NA
173553894
173571491
17598
GRCh38
Duplication
No
glessner_09_ASD_replication_cases-AU010211
NA
ASD
NA
NA
173553894
173571491
17598
GRCh38
Duplication
No
glessner_09_ASD_replication_cases-AU012704
NA
ASD
NA
NA
173553894
173571491
17598
GRCh38
Duplication
No
glessner_09_ASD_replication_cases-AU014004
NA
ASD
NA
NA
173553894
173571491
17598
GRCh38
Duplication
No
glessner_09_ASD_replication_cases-AU018010
NA
ASD
NA
NA
173553894
173571491
17598
GRCh38
Duplication
Yes
glessner_09_ASD_replication_cases-AU020003
NA
ASD
NA
NA
173553894
173571491
17598
GRCh38
Duplication
Yes
glessner_09_ASD_replication_cases-AU027704
NA
ASD
NA
NA
173553894
173571491
17598
GRCh38
Duplication
No
glessner_09_ASD_replication_cases-AU028503
NA
ASD
NA
NA
173553894
173571491
17598
GRCh38
Duplication
No
glessner_09_ASD_replication_cases-AU029303
NA
ASD
NA
NA
173553894
173571491
17598
GRCh38
Duplication
No
glessner_09_ASD_replication_cases-AU029304
NA
ASD
NA
NA
173553894
173571491
17598
GRCh38
Duplication
No
glessner_09_ASD_replication_cases-AU048303
NA
ASD
NA
NA
173553894
173571491
17598
GRCh38
Duplication
No
glessner_09_ASD_replication_cases-AU048304
NA
ASD
NA
NA
173553894
173571491
17598
GRCh38
Duplication
No
glessner_09_ASD_replication_cases-AU054304
NA
ASD
NA
NA
173553894
173571491
17598
GRCh38
Duplication
No
glessner_09_ASD_replication_cases-AU065404
NA
ASD
NA
NA
173553894
173571491
17598
GRCh38
Duplication
No
glessner_09_ASD_replication_cases-AU065405
NA
ASD
NA
NA
173553894
173571491
17598
GRCh38
Duplication
No
glessner_09_ASD_replication_cases-AU065605
NA
ASD
NA
NA
173553894
173571491
17598
GRCh38
Duplication
No
glessner_09_ASD_replication_cases-AU065606
NA
ASD
NA
NA
173553894
173571491
17598
GRCh38
Duplication
No
glessner_09_ASD_replication_cases-AU065607
NA
ASD
NA
NA
173553894
173571491
17598
GRCh38
Duplication
No
glessner_09_ASD_replication_cases-AU077303
NA
ASD
NA
NA
173553894
173571491
17598
GRCh38
Duplication
No
glessner_09_ASD_replication_cases-AU078704
NA
ASD
NA
NA
173553894
173571491
17598
GRCh38
Duplication
No
glessner_09_ASD_replication_cases-AU079004
NA
ASD
NA
NA
173553894
173571491
17598
GRCh38
Duplication
No
glessner_09_ASD_replication_cases-AU079904
NA
ASD
NA
NA
173553894
173571491
17598
GRCh38
Duplication
No
glessner_09_ASD_replication_cases-AU079905
NA
ASD
NA
NA
173553894
173571491
17598
GRCh38
Duplication
No
glessner_09_ASD_replication_cases-AU082505
NA
ASD
NA
NA
173553894
173571491
17598
GRCh38
Duplication
No
glessner_09_ASD_replication_cases-AU083003
NA
ASD
NA
NA
173553894
173571491
17598
GRCh38
Duplication
No
glessner_09_ASD_replication_cases-AU083004
NA
ASD
NA
NA
173553894
173571491
17598
GRCh38
Duplication
No
glessner_09_ASD_replication_cases-AU083603
NA
ASD
NA
NA
173553894
173571491
17598
GRCh38
Duplication
No
glessner_09_ASD_replication_cases-AU083604
NA
ASD
NA
NA
173553894
173571491
17598
GRCh38
Duplication
No
glessner_09_ASD_replication_cases-AU084505
NA
ASD
NA
NA
173553894
173571491
17598
GRCh38
Duplication
No
glessner_09_ASD_replication_cases-AU0947303
NA
ASD
NA
NA
173553894
173571491
17598
GRCh38
Duplication
No
glessner_09_ASD_replication_cases-AU0955301
NA
ASD
NA
NA
173553894
173571491
17598
GRCh38
Duplication
No
glessner_09_ASD_replication_cases-AU0955302
NA
ASD
NA
NA
173553894
173571491
17598
GRCh38
Duplication
No
glessner_09_ASD_replication_cases-AU0955303
NA
ASD
NA
NA
173553894
173571491
17598
GRCh38
Duplication
No
glessner_09_ASD_replication_cases-AU0976301
NA
ASD
NA
NA
173553894
173571491
17598
GRCh38
Duplication
No
glessner_09_ASD_replication_cases-AU0976303
NA
ASD
NA
NA
173553894
173571491
17598
GRCh38
Duplication
No
glessner_09_ASD_replication_cases-AU0979302
NA
ASD
NA
NA
173553894
173571491
17598
GRCh38
Duplication
No
glessner_09_ASD_replication_cases-AU0993301
NA
ASD
NA
NA
173553894
173571491
17598
GRCh38
Duplication
No
glessner_09_ASD_replication_cases-AU0994301
NA
ASD
NA
NA
173553894
173571491
17598
GRCh38
Duplication
No
glessner_09_ASD_replication_cases-AU0994302
NA
ASD
NA
NA
173553894
173571491
17598
GRCh38
Duplication
No
glessner_09_ASD_replication_cases-AU1000303
NA
ASD
NA
NA
173553894
173571491
17598
GRCh38
Duplication
No
glessner_09_ASD_replication_cases-AU1047301
NA
ASD
NA
NA
173553894
173571491
17598
GRCh38
Duplication
No
glessner_09_ASD_replication_cases-AU1053301
NA
ASD
NA
NA
173553894
173571491
17598
GRCh38
Duplication
No
glessner_09_ASD_replication_cases-AU1073301
NA
ASD
NA
NA
173553894
173571491
17598
GRCh38
Duplication
No
glessner_09_ASD_replication_cases-AU1107301
NA
ASD
NA
NA
173553894
173571491
17598
GRCh38
Duplication
No
glessner_09_ASD_replication_cases-AU1137202
NA
ASD
NA
NA
173553894
173571491
17598
GRCh38
Duplication
No
glessner_09_ASD_replication_cases-AU1179302
NA
ASD
NA
NA
173553894
173571491
17598
GRCh38
Duplication
No
glessner_09_ASD_replication_cases-AU1221302
NA
ASD
NA
NA
173553894
173571491
17598
GRCh38
Duplication
No
glessner_09_ASD_replication_cases-AU1261301
NA
ASD
NA
NA
173553894
173571491
17598
GRCh38
Duplication
No
glessner_09_ASD_replication_cases-AU1317303
NA
ASD
NA
NA
173553894
173571491
17598
GRCh38
Duplication
No
glessner_09_ASD_replication_cases-AU1331303
NA
ASD
NA
NA
173553894
173571491
17598
GRCh38
Duplication
No
glessner_09_ASD_replication_cases-AU1333301
NA
ASD
NA
NA
173553894
173571491
17598
GRCh38
Duplication
No
glessner_09_ASD_replication_cases-AU1333302
NA
ASD
NA
NA
173553894
173571491
17598
GRCh38
Duplication
No
glessner_09_ASD_replication_cases-AU1347301
NA
ASD
NA
NA
173553894
173571491
17598
GRCh38
Duplication
No
glessner_09_ASD_replication_cases-AU1357304
NA
ASD
NA
NA
173553894
173571491
17598
GRCh38
Duplication
No
glessner_09_ASD_replication_cases-AU1411302
NA
ASD
NA
NA
173553894
173571491
17598
GRCh38
Duplication
No
glessner_09_ASD_replication_cases-AU1432302
NA
ASD
NA
NA
173553894
173571491
17598
GRCh38
Duplication
No
glessner_09_ASD_replication_cases-AU1456302
NA
ASD
NA
NA
173553894
173571491
17598
GRCh38
Duplication
No
glessner_09_ASD_replication_cases-AU1470303
NA
ASD
NA
NA
173553894
173571491
17598
GRCh38
Duplication
No
glessner_09_ASD_replication_cases-AU1559301
NA
ASD
NA
NA
173553894
173571491
17598
GRCh38
Duplication
No
glessner_09_ASD_replication_cases-AU1559302
NA
ASD
NA
NA
173553894
173571491
17598
GRCh38
Duplication
No
glessner_09_ASD_replication_cases-AU1559303
NA
ASD
NA
NA
173553894
173571491
17598
GRCh38
Duplication
No
glessner_09_ASD_replication_cases-AU1587302
NA
ASD
NA
NA
173553894
173571491
17598
GRCh38
Duplication
No
glessner_09_ASD_replication_cases-AU1614301
NA
ASD
NA
NA
173553894
173571491
17598
GRCh38
Duplication
No
glessner_09_ASD_replication_cases-AU1614302
NA
ASD
NA
NA
173553894
173571491
17598
GRCh38
Duplication
No
glessner_09_ASD_replication_cases-AU1644302
NA
ASD
NA
NA
173553894
173571491
17598
GRCh38
Duplication
No
glessner_09_ASD_replication_cases-AU1678301
NA
ASD
NA
NA
173553894
173571491
17598
GRCh38
Duplication
No
glessner_09_ASD_replication_cases-AU1678302
NA
ASD
NA
NA
173553894
173571491
17598
GRCh38
Duplication
No
glessner_09_ASD_replication_cases-AU1694302
NA
ASD
NA
NA
173553894
173571491
17598
GRCh38
Duplication
No
glessner_09_ASD_replication_cases-AU1708302
NA
ASD
NA
NA
173553894
173571491
17598
GRCh38
Duplication
No
glessner_09_ASD_replication_cases-AU1805301
NA
ASD
NA
NA
173553894
173571491
17598
GRCh38
Duplication
No
glessner_09_ASD_replication_cases-AU1862301
NA
ASD
NA
NA
173553894
173571491
17598
GRCh38
Duplication
No
glessner_09_ASD_replication_cases-AU1921303
NA
ASD
NA
NA
173553894
173571491
17598
GRCh38
Duplication
No
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002302
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
175370765
176011624
640860
GRCh38
Deletion
Yes
krumm_15_ASD_discovery_cases-case13697.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
174275314
174281303
5990
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)
173521663
173571491
49829
GRCh38
Duplication
No
lesca_12_EP_discovery_cases-case3-81
NA
F
Epilepsy
Phenotype: LKS-wiESES. Seizure Characteristics: CPS. Autistic features: No. ADHD features: Yes. Other features: None.
Initial cognitive development: Normal. Cognitive regression: Yes. Verbal IQ 89, performance IQ 84 (at 8 years of age).
175814505
175850493
35989
GRCh38
Duplication
No
maini_18_ASD/DD/ID_discovery_cases-case84
9 yrs.
M
Developmental delay and intellectual disability
Birth history: born at 40 weeks gestation following a pregnancy marked by pre-perinatal distress. Developmental milestones: motor delay, language delay. Language and communication evaluation: no language disorder or absent speech. Musculoskeletal evaluation: tapered fingers, proximally placed F1, brachymetacarpia, hallux valgus, pes planus, skeletal anomalies. Behavioral/psychiatric evaluation: behavioral anomalies. Epilepsy/abnormal EEG: no reported epilepsy or EEG abnormalities. Additional medical history: kidney malformations, gastroenteric malformations, genital malformations, cerebral malformations, neurological anomalies, ocular anomalies, endocrinologic anomalies. Dysmorphic features: upslanting palpebral fissures, small nose, hypoplastic columella, cupped ears with hypoplastic antihelices and thick and rounded helices. Growth parameters: normal head circumference, normal growth. Family history: negative for consanguineity, negative for familiarity, family history negative for NDDs.
Moderate intellectual disability
172563309
173480405
917097
GRCh38
Duplication
No
nava_13_ASD_discovery_cases-Fam222Proband7567
N/A
N/A
ASD
Additional clinical profile info N/A
ID
173517275
173598819
81545
GRCh38
Duplication
No
pinto_10_ASD_discovery_cases-case5210_4
NA
M
Autism
Language delay; born at 35 wks by emergency Csection, respiratory distress; cerebral palsy, right hemiplegia, anomalies on MRI compatible with motor deficits; at age 2 y: head circumference P20, weight P90; no epilepsy
Average non-verbal IQ
173521663
173571491
49829
GRCh38
Duplication
Yes
poultney_13_ASD_discovery_cases-case00HI1421A
N/A
F
ASD
ASD case from AGRE (AGRE ID AU011705; NDAR ID NDAR_INVVZ564AD4)
172755293
172820239
64947
GRCh38
Duplication
No
prasad_12_ASD_discovery_cases-case85288
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
176527348
176544703
17356
Unknown
Duplication
No
quintela_17_DD/ID_discovery_cases-caseID_325
15 yrs.
M
Intellectual disability
Short stature. CNV inherited from unaffected parent.
Intellectual disability
175701147
175959634
258488
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11001.p1
7.8
M
Autism
NA
Full-scale IQ, 124; non-verbal IQ, 123; verbal IQ, 113
175364178
175365610
1433
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11012.p1
8.8
M
Autism
NA
Full-scale IQ, 79; non-verbal IQ, 80; verbal IQ, 83
175364178
175365610
1433
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11014.p1
9.6
M
Autism
NA
Full-scale IQ, 148; non-verbal IQ, 158; verbal IQ, 113
175364178
175365610
1433
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11017.p1
4.3
M
Autism
NA
Full-scale IQ, 132; non-verbal IQ, 136; verbal IQ, 116
175364178
175365610
1433
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11029.p1
9.3
F
Autism
NA
Full-scale IQ, 29; non-verbal IQ, 36; verbal IQ, 21
173521663
173571491
49829
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11043.p1
8.4
F
Autism
NA
Full-scale IQ, 104; non-verbal IQ, 103; verbal IQ, 106
174383911
174391348
7438
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11044.p1
5.5
M
Aspergers
NA
Full-scale IQ, 106; non-verbal IQ, 101; verbal IQ 112
173524544
173571491
46948
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11045.p1
8.3
F
Autism
NA
Full-scale IQ, 79; non-verbal IQ, 84; verbal IQ, 80
175364178
175365610
1433
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11052.p1
5.5
M
Autism
NA
Full-scale IQ, 93; non-verbal IQ, 97; verbal IQ, 90
175364178
175365610
1433
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11067.p1
11.3
M
Autism
NA
Full-scale IQ, 130; non-verbal IQ, 128; verbal IQ, 121
175364178
175365610
1433
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11074.p1
9.2
M
Autism
NA
Full-scale IQ, 68; non-verbal IQ, 75; verbal IQ, 58
175364178
175365610
1433
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11083.p1
8.8
M
Autism
NA
Full-scale IQ, 122; non-verbal IQ, 119; verbal IQ, 122
175364178
175365610
1433
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11091.p1
8.1
M
Autism
NA
Full-scale IQ, 122; non-verbal IQ, 111; verbal IQ, 136
173521663
173571491
49829
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11092.p1
13.1
M
Autism
NA
Full-scale IQ, 109; non-verbal IQ, 125; verbal IQ, 108
173521663
173571491
49829
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11099.p1
11.4
M
Autism
NA
Full-scale IQ, 83; non-verbal IQ, 89; verbal IQ, 77
173521663
173571491
49829
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11118.p1
11.7
F
Autism
NA
Full-scale IQ, 93; non-verbal IQ, 104; verbal IQ, 77
175364178
175365610
1433
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11120.p1
15.9
M
Autism
NA
Full-scale IQ, 114; non-verbal IQ, 104; verbal IQ, 128
173521663
173571491
49829
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11131.p1
7.6
M
Autism
NA
Full-scale IQ, 80; non-verbal IQ, 75; verbal IQ 96
175364178
175365610
1433
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11133.p1
17
M
Autism
NA
Full-scale IQ, 128; non-verbal IQ, 110; verbal IQ 140
175364178
175365610
1433
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11168.p1
11.3
M
Autism
NA
Full-scale IQ, 96; non-verbal IQ, 106; verbal IQ, 119
173521663
173571491
49829
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11189.p1
14.5
M
Autism
NA
Full-scale IQ, 60; non-verbal IQ, 77; verbal IQ, 37
175364178
175365610
1433
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11194.p1
5.3
M
Autism
NA
Full-scale IQ, 89; non-verbal IQ, 88; verbal IQ, 98
175364178
175365610
1433
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11196.p1
12.1
M
Autism
NA
Full-scale IQ, 112; non-verbal IQ, 117; verbal IQ, 106
173521663
173571491
49829
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11198.p1
11.9
M
Autism
NA
Full-scale IQ, 120; non-verbal IQ, 115; verbal IQ, 123
175364178
175365610
1433
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11199.p1
10.6
M
Autism
NA
Full-scale IQ, 88; non-verbal IQ, 94; verbal IQ, 81
175364178
175365610
1433
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11203.p1
7.1
F
Autism
NA
Full-scale IQ, 86; non-verbal IQ, 83; verbal IQ, 95
175364178
175365610
1433
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11207.p1
14.8
M
Autism
NA
Full-scale IQ, 81; non-verbal IQ, 91; verbal IQ, 70
173521663
173571491
49829
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11227.p1
9.7
M
Autism
NA
Full-scale IQ, 80; non-verbal IQ, 93; verbal IQ, 63
175364178
175365610
1433
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11233.p1
6.3
F
Autism
NA
Full-scale IQ, 57; non-verbal IQ, 60; verbal IQ, 65
175364178
175365610
1433
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11257.p1
5.5
M
Autism
NA
Full-scale IQ, 129; non-verbal IQ, 128; verbal IQ, 118
175364178
175365610
1433
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11262.p1
6.2
M
Autism
NA
Full-scale IQ, 84; non-verbal IQ, 85; verbal IQ, 89
175364178
175365610
1433
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11266.p1
4.3
F
Autism
NA
Full-scale IQ, 71; non-verbal IQ, 73; verbal IQ, 78
175364178
175365610
1433
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11276.p1
7.7
M
Autism
NA
Full-scale IQ, 63; non-verbal IQ, 81; verbal IQ 59
173518578
173571809
53232
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11301.p1
9.8
M
Autism
NA
Full-scale IQ, 101; non-verbal IQ, 104; verbal IQ, 96
175364178
175368755
4578
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11309.p1
16.1
M
Autism
NA
Full-scale IQ, 26; non-verbal IQ, 34; verbal IQ, 26
173521663
173571491
49829
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11312.p1
10
M
ASD
NA
Full-scale IQ, 104; non-verbal IQ, 109; verbal IQ, 96
173521663
173571491
49829
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11327.p1
11.3
M
ASD
NA
Full-scale IQ, 84; non-verbal IQ, 86; verbal IQ, 83
175364178
175365610
1433
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11336.p1
10.4
M
Autism
NA
Full-scale IQ, 123; non-verbal IQ, 124; verbal IQ, 114
175364178
175365610
1433
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
175364178
175365610
1433
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11365.p1
14.7
M
Autism
NA
Full-scale IQ, 62; non-verbal IQ, 63; verbal IQ, 64
175364178
175365610
1433
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11370.p1
14.6
M
Autism
NA
Full-scale IQ, 100; non-verbal IQ, 110; verbal IQ 102
175364178
175365610
1433
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11391.p1
15.2
M
Autism
NA
Full-scale IQ, 116; non-verbal IQ, 116; verbal IQ, 113
175364178
175365610
1433
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11395.p1
6.4
M
Autism
NA
Full-scale IQ, 113; non-verbal IQ, 127; verbal IQ, 87
175364178
175365610
1433
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11397.p1
11.2
M
Autism
NA
Full-scale IQ, 129; non-verbal IQ, 128; verbal IQ, 120
175364178
175365610
1433
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11432.p1
6.5
M
Autism
NA
Full-scale IQ, 117; non-verbal IQ, 117; verbal IQ, 111
175364178
175365610
1433
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11436.p1
4.8
M
Autism
NA
Full-scale IQ, 110; non-verbal IQ, 109; verbal IQ, 109
173529023
173571491
42469
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11447.p1
6.6
M
Autism
NA
Full-scale IQ, 89; non-verbal IQ, 97; verbal IQ, 82
173518578
173571491
52914
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11450.p1
5.8
M
ASD
NA
Full-scale IQ, 78; non-verbal IQ, 79; verbal IQ, 82
175364178
175365610
1433
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11452.p1
8.5
M
Autism
NA
Full-scale IQ, 80; non-verbal IQ, 80; verbal IQ, 85
173521663
173571491
49829
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11463.p1
7.6
M
Autism
NA
Full-scale IQ, 88; non-verbal IQ, 98; verbal IQ, 79
173518578
173571491
52914
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11473.p1
11.5
M
Autism
NA
Full-scale IQ, 108; non-verbal IQ, 109; verbal IQ, 105
175364178
175365610
1433
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11476.p1
7.3
M
Autism
NA
Full-scale IQ, 113; non-verbal IQ, 119; verbal IQ, 99
173521663
173571491
49829
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11479.p1
6
M
Autism
NA
Full-scale IQ, 133; non-verbal IQ, 137; verbal IQ, 119
175364178
175365610
1433
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11499.p1
7
M
Autism
NA
Full-scale IQ, 133; non-verbal IQ, 139; verbal IQ, 108
175364178
175365610
1433
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
175364178
175365610
1433
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11526.p1
7.6
M
Autism
NA
Full-scale IQ, 89; non-verbal IQ, 92; verbal IQ, 85
173521663
173571491
49829
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11537.p1
14.3
F
Autism
NA
Full-scale IQ, 64; non-verbal IQ, 66; verbal IQ, 63
173521663
173571491
49829
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11572.p1
9.4
M
Autism
NA
Full-scale IQ, 85; non-verbal IQ, 83; verbal IQ, 93
175364178
175365610
1433
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11584.p1
11.5
M
Autism
NA
Full-scale IQ, 73; non-verbal IQ, 75; verbal IQ, 73
175364178
175365610
1433
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
173521663
173571809
50147
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11597.p1
12.3
M
Autism
NA
Full-scale IQ, 130; non-verbal IQ, 118; verbal IQ, 128
175364178
175369601
5424
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11610.p1
7.3
M
Autism
NA
Full-scale IQ, 127; non-verbal IQ, 138; verbal IQ, 99
175364178
175365610
1433
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11612.p1
10.6
M
Autism
NA
Full-scale IQ, 84; non-verbal IQ, 90; verbal IQ, 79
173521663
173571809
50147
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11617.p1
15.3
M
Autism
NA
Full-scale IQ, 35; non-verbal IQ, 39; verbal IQ, 27
175364178
175365610
1433
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11630.p1
10.6
M
Autism
NA
Full-scale IQ, 104; non-verbal IQ, 105; verbal IQ, 106
175364178
175365610
1433
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11630.p1
10.6
M
Autism
NA
Full-scale IQ, 104; non-verbal IQ, 105; verbal IQ, 106
173528784
173571809
43026
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11634.p1
5.7
M
Autism
NA
Full-scale IQ, 55; non-verbal IQ, 56; verbal IQ, 63
173521663
173571809
50147
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11638.p1
12.5
M
Autism
NA
Full-scale IQ, 55; non-verbal IQ, 76; verbal IQ, 30
175364178
175365610
1433
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
175364178
175365610
1433
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
173521663
173571809
50147
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11698.p1
8.4
F
Autism
NA
Full-scale IQ, 113; non-verbal IQ, 110; verbal IQ, 117
173521663
173571491
49829
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11711.p1
5.3
M
Autism
NA
Full-scale IQ, 94; non-verbal IQ, 97; verbal IQ, 93
173521663
173571809
50147
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11724.p1
10.9
M
Autism
NA
Full-scale IQ, 59; non-verbal IQ, 56; verbal IQ, 67
175364178
175365610
1433
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11733.p1
5.5
F
Autism
NA
Full-scale IQ, 87; non-verbal IQ, 93; verbal IQ, 81
174383911
174391950
8040
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11753.p1
17.3
M
Autism
NA
Full-scale IQ, 111; non-verbal IQ, 100; verbal IQ, 128
175364178
175365610
1433
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
175364178
175365610
1433
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
173528784
173571809
43026
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11846.p1
15.8
M
Autism
NA
Full-scale IQ, 108; non-verbal IQ, 106; verbal IQ, 110
173521663
173571809
50147
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11868.p1
7.9
M
Autism
NA
Full-scale IQ, 88; non-verbal IQ, 91; verbal IQ, 86
175359897
175365610
5714
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11878.p1
9.5
M
Autism
NA
Full-scale IQ, 78; non-verbal IQ, 72; verbal IQ, 94
175364178
175365610
1433
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11883.p1
10.3
M
Autism
NA
Full-scale IQ, 82; non-verbal IQ, 92; verbal IQ, 70
173524544
173571809
47266
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11919.p1
4.1
M
ASD
NA
Full-scale IQ, 84; non-verbal IQ, 77; verbal IQ, 104
175364178
175365610
1433
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11938.p1
4.5
M
Autism
NA
Full-scale IQ, 88; non-verbal IQ, 95; verbal IQ, 82
175364178
175365610
1433
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11946.p1
11
M
Autism
NA
Full-scale IQ, 52; non-verbal IQ, 59; verbal IQ, 37
173521663
173571809
50147
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11954.p1
5.3
M
Autism
NA
Full-scale IQ, 69; non-verbal IQ, 62; verbal IQ, 79
175364178
175365610
1433
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11996.p1
10
M
Autism
NA
Full-scale IQ, 77; non-verbal IQ, 85; verbal IQ, 54
175364178
175365610
1433
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12010.p1
10
F
Autism
NA
Full-scale IQ, 100; non-verbal IQ, 103; verbal IQ, 94
175364178
175365610
1433
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
175364178
175365610
1433
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12037.p1
10.3
M
Autism
NA
Full-scale IQ, 88; non-verbal IQ, 90; verbal IQ, 88
175359897
175365610
5714
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12041.p1
6.7
M
Autism
NA
Full-scale IQ, 108; non-verbal IQ, 119; verbal IQ, 87
173367265
173390833
23569
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12044.p1
5.6
M
Autism
NA
Full-scale IQ, 72; non-verbal IQ, 75; verbal IQ, 76
175364178
175365610
1433
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12051.p1
6.3
M
Autism
NA
Full-scale IQ, 62; non-verbal IQ, 66; verbal IQ, 63
175364178
175365610
1433
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12061.p1
7
F
Autism
NA
Full-scale IQ, 92; non-verbal IQ, 89; verbal IQ, 101
175364178
175365610
1433
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12073.p1
5.9
F
Autism
NA
Full-scale IQ, 110; non-verbal IQ, 111; verbal IQ, 105
175364178
175365610
1433
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
175364178
175365610
1433
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12097.p1
4.8
M
Autism
NA
Full-scale IQ, 130; non-verbal IQ, 115; verbal IQ, 145
175364178
175365610
1433
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12100.p1
11.3
M
Autism
NA
Full-scale IQ, 71; non-verbal IQ, 64; verbal IQ, 87
175364178
175365610
1433
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12108.p1
13.9
M
Autism
NA
Full-scale IQ, 66; non-verbal IQ, 63; verbal IQ, 74
175364178
175365610
1433
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12150.p1
8.7
M
Autism
NA
Full-scale IQ, 109; non-verbal IQ, 95; verbal IQ, 133
173521663
173571809
50147
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12157.p1
14.7
M
Autism
NA
Full-scale IQ, 91; non-verbal IQ, 91; verbal IQ, 93
173524544
173571809
47266
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12161.p1
6.3
F
Autism
NA
Full-scale IQ, 106; non-verbal IQ, 95; verbal IQ, 122
175364178
175365610
1433
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12175.p1
5.1
M
Autism
NA
Full-scale IQ, 71; non-verbal IQ, 73; verbal IQ, 79
175364178
175365610
1433
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12175.p1
5.1
M
Autism
NA
Full-scale IQ, 71; non-verbal IQ, 73; verbal IQ, 79
173521663
173571809
50147
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12185.p1
7.2
M
Autism
NA
Full-scale IQ, 90; non-verbal IQ, 94; verbal IQ, 86
173521663
173571809
50147
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12192.p1
6.9
M
Autism
NA
Full-scale IQ, 127; non-verbal IQ, 130; verbal IQ, 115
173521663
173571809
50147
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12206.p1
17.1
M
Aspergers
NA
Full-scale IQ, 130; non-verbal IQ, 141; verbal IQ, 113
175364178
175365610
1433
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12221.p1
4.1
M
Autism
NA
Full-scale IQ, 89; non-verbal IQ, 99; verbal IQ, 76
175364178
175365610
1433
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
175364178
175365610
1433
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12241.p1
4.9
F
Autism
NA
Full-scale IQ, 72; non-verbal IQ, 75; verbal IQ, 76
175364178
175368755
4578
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12243.p1
12
M
Autism
NA
Full-scale IQ, 97; non-verbal IQ, 92; verbal IQ, 107
175364178
175365610
1433
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12250.p1
10.8
F
Aspergers
NA
Full-scale IQ, 85; non-verbal IQ, 78; verbal IQ, 103
175364178
175365610
1433
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12260.p1
5.3
M
Autism
NA
Full-scale IQ, 106; non-verbal IQ, 103; verbal IQ, 109
173521663
173571809
50147
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12297.p1
15
M
Autism
NA
Full-scale IQ, 97; non-verbal IQ, 102; verbal IQ, 89
175364178
175365610
1433
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12329.p1
8.1
M
Autism
NA
Full-scale IQ, 75; non-verbal IQ, 74; verbal IQ, 82
175364178
175365610
1433
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12335.p1
6.3
F
Autism
NA
Full-scale IQ, 55; non-verbal IQ, 47; verbal IQ, 66
175364178
175365610
1433
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12356.p1
5.8
M
Aspergers
NA
Full-scale IQ, 113; non-verbal IQ, 104; verbal IQ, 123
175364178
175365610
1433
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12373.p1
9.8
M
Autism
NA
Full-scale IQ, 0; non-verbal IQ, 77; verbal IQ, 40
173518578
173571809
53232
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12375.p1
15.9
M
Autism
NA
Full-scale IQ, 94; non-verbal IQ, 93; verbal IQ, 85
175364178
175365610
1433
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
173518578
173571809
53232
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12407.p1
9.4
M
ASD
NA
Full-scale IQ, 68; non-verbal IQ, 86; verbal IQ, 41
175364178
175365610
1433
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
175364178
175365610
1433
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12454.p1
5.5
M
Autism
NA
Full-scale IQ, 72; non-verbal IQ, 82; verbal IQ, 62
175364178
175365610
1433
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12460.p1
9.4
M
Autism
NA
Full-scale IQ, 68; non-verbal IQ, 73; verbal IQ, 63
173532471
173571809
39339
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12462.p1
16.8
M
Autism
NA
Full-scale IQ, 112; non-verbal IQ, 113; verbal IQ, 108
175364178
175365610
1433
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
175364178
175365610
1433
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12534.p1
7
F
Autism
NA
Full-scale IQ, 81; non-verbal IQ, 83; verbal IQ, 84
173528784
173571809
43026
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12540.p1
6.9
F
Autism
NA
Full-scale IQ, 104; non-verbal IQ, 104; verbal IQ, 105
175364178
175365610
1433
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
173521663
173571809
50147
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12597.p1
6.4
M
Autism
NA
Full-scale IQ, 70; non-verbal IQ, 77; verbal IQ, 66
175364178
175365610
1433
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12602.p1
9.8
M
Aspergers
NA
Full-scale IQ, 110; non-verbal IQ, 111; verbal IQ, 106
175364178
175365610
1433
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12616.p1
4.3
M
Autism
NA
Full-scale IQ, 111; non-verbal IQ, 113; verbal IQ, 104
175364178
175365610
1433
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12618.p1
5.5
M
ASD
NA
Full-scale IQ, 106; non-verbal IQ, 107; verbal IQ, 102
173515564
173571809
56246
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12656.p1
10.9
M
Autism
NA
Full-scale IQ, 40; non-verbal IQ, 46; verbal IQ, 29
175364178
175365610
1433
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12701.p1
6.7
M
Autism
NA
Full-scale IQ, 73; non-verbal IQ, 77; verbal IQ, 74
173518578
173571809
53232
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12710.p1
4
M
Autism
NA
Full-scale IQ, 88; non-verbal IQ, 81; verbal IQ, 105
173524544
173571809
47266
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12722.p1
11.6
M
Autism
NA
Full-scale IQ, 72; non-verbal IQ, 73; verbal IQ, 77
175364178
175365610
1433
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12764.p1
15.2
F
ASD
NA
Full-scale IQ, 94; non-verbal IQ, 99; verbal IQ, 86
175364178
175365610
1433
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12764.p1
15.2
F
ASD
NA
Full-scale IQ, 94; non-verbal IQ, 99; verbal IQ, 86
174383911
174391950
8040
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12780.p1
7.8
M
Autism
NA
Full-scale IQ, 115; non-verbal IQ, 110; verbal IQ, 121
175364178
175365610
1433
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12796.p1
5.2
M
Autism
NA
Full-scale IQ, 68; non-verbal IQ, 72; verbal IQ, 68
173518578
173571809
53232
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12805.p1
8.5
F
Autism
NA
Full-scale IQ, 100; non-verbal IQ, 104; verbal IQ, 93
175364178
175368755
4578
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12810.p1
10.9
M
Autism
NA
Full-scale IQ, 63; non-verbal IQ, 58; verbal IQ, 77
175364178
175368755
4578
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12879.p1
10.3
F
Autism
NA
Full-scale IQ, 34; non-verbal IQ, 35; verbal IQ, 33
175364178
175365610
1433
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12902.p1
14.3
M
Autism
NA
Full-scale IQ, 118; non-verbal IQ, 114; verbal IQ, 123
175364178
175368755
4578
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
175364178
175368755
4578
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12921.p1
11.4
M
Autism
NA
Full-scale IQ, 80; non-verbal IQ, 74; verbal IQ, 100
175364178
175365610
1433
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12925.p1
13.5
M
Autism
NA
Full-scale IQ, 114; non-verbal IQ, 101; verbal IQ, 136
173521663
173571809
50147
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12956.p1
5.1
M
Autism
NA
Full-scale IQ, 84; non-verbal IQ, 91; verbal IQ, 80
175364178
175365610
1433
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12975.p1
10.4
M
ASD
NA
Full-scale IQ, 89; non-verbal IQ, 97; verbal IQ, 78
173521663
173563476
41814
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12989.p1
7.1
M
Autism
NA
Full-scale IQ, 82; non-verbal IQ, 83; verbal IQ, 88
175364178
175365610
1433
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-13016.p1
5.5
M
Aspergers
NA
Full-scale IQ, 98; non-verbal IQ, 102; verbal IQ, 93
175364178
175365610
1433
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-13036.p1
11.9
M
Autism
NA
Full-scale IQ, 27; non-verbal IQ, 36; verbal IQ, 19
175364178
175365610
1433
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
175364178
175365610
1433
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
173537944
173571809
33866
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-13050.p1
4.4
M
Autism
NA
Full-scale IQ, 98; non-verbal IQ, 93; verbal IQ, 108
173528784
173571809
43026
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-13056.p1
4.6
M
Autism
NA
Full-scale IQ, 64; non-verbal IQ, 65; verbal IQ, 58
173521663
173571809
50147
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-13060.p1
6.8
M
Autism
NA
Full-scale IQ, 86; non-verbal IQ, 81; verbal IQ, 98
175364178
175365610
1433
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-13065.p1
5.6
M
Autism
NA
Full-scale IQ, 91; non-verbal IQ, 101; verbal IQ, 81
175364178
175365610
1433
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-13073.p1
4.8
M
Autism
NA
Full-scale IQ, 43; non-verbal IQ, 60; verbal IQ, 25
173518578
173571809
53232
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-13080.p1
8.3
F
Autism
NA
Full-scale IQ, 111; non-verbal IQ, 104; verbal IQ, 121
175364178
175365610
1433
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-13083.p1
7.5
M
Autism
NA
Full-scale IQ, 52; non-verbal IQ, 67; verbal IQ, 23
175364178
175365610
1433
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-13162.p1
9.8
M
Autism
NA
Full-scale IQ, 74; non-verbal IQ, 78; verbal IQ, 72
175359897
175365610
5714
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-13166.p1
9.1
M
Autism
NA
Full-scale IQ, 46; non-verbal IQ, 47; verbal IQ, 45
175364178
175365610
1433
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-13175.p1
11.7
M
Autism
NA
Full-scale IQ, 63; non-verbal IQ, 70; verbal IQ, 52
175364178
175365610
1433
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-13199.p1
15.2
F
Autism
NA
Full-scale IQ, 105; non-verbal IQ, 110; verbal IQ, 97
175364178
175365610
1433
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-13226.p1
8.7
M
ASD
NA
Full-scale IQ, 85; non-verbal IQ, 87; verbal IQ, 85
175364178
175365610
1433
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-13226.p1
8.7
M
ASD
NA
Full-scale IQ, 85; non-verbal IQ, 87; verbal IQ, 85
173515564
173571809
56246
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-13304.p1
6.9
M
Autism
NA
Full-scale IQ, 74; non-verbal IQ, 61; verbal IQ, 111
175364178
175365610
1433
GRCh38
Deletion
No
sansovic_17_DD/ID/ASD_discovery_cases-case48
6 mos.
F
Developmental delay/intellectual disability
Developmental delay/intellectual disability, Congenital anomalies
176855554
178835019
1979466
GRCh38
Deletion
No
tropeano_16_ASD_discovery_cases-MAAS13
60-69 yrs.
M
ASD
Case diagnosed with autism based on ICD-10 research criteria; diagnosis confirmed using ADOS and ADI-R. Number of additional co-morbid mental health conditions (diagnosed in accordance with ICD-10R or DSM-IV) at time of initital assessment: 5.
172563309
172654750
91442
GRCh38
Deletion
Yes
vaags_11_ASD_discovery_cases-probandF2-003
3 yrs. 5 mos.
M
Autism
Diagnosis of autism based on ADI-R and ADOS-1. Language: Oral and Written Language Scales/OWLS, incomplete; Peabody Picture Vocabulary Test/PPVT-4, SS = 67 (<1%). Adaptive Behavior (measured by VABS-II): adaptive behavior composite (ABC) = 61 (<1%), communication (COM) = 63 (1%), daily living skills (DLS) = 60 (<1%), socialization (SOC) = 59 (<1%), and motor skills (MOT) = 72 (3%). Born at 31 weeks, asthma, juvenile arthritis. Family history: proband was one of three trizygotic triplets; sister with autism & nonabsent seizures (has NRXN3 deletion).
Leiter-R IQ: incomplete (test attempted but proband failed to complete)
175354813
175369601
14789
GRCh38
Deletion
No
yin_16_ASD_discovery_cases-case157
N/A
N/A
ASD
Cases diagnosed with autistic disorder according to DSM-IV and confirmed by using the Chinese version of ADI-R.
175504299
175525935
21637
GRCh38
Deletion
No
zarrei_19_ASD/ADHD/OCD/SCZ_discovery_cases-caseOCD146-JS-1254_188613
N/A
M
ADHD and OCD
Primary diagnosis: OCD. Additional phenotype(s): ADHD (inattentive subtype), and a Tourettes disorder with tic
173669724
173812211
142488
GRCh38
Deletion
Yes
Controls
Patient ID
Author, Year
Age
Gender
Primary Diagnosis
Clinical Profile
Cognitive Profile
CNV Start
CNV End
CNV Size
Genome Build
Type Method
Validation
bacchelli_20_ASD_discovery_controls-control10003
N/A
M
Control
Control
175482490
175499065
16576
GRCh38
Deletion
No
bacchelli_20_ASD_discovery_controls-control10415
N/A
M
Control
Control
175316912
175499065
182154
GRCh38
Deletion
No
bacchelli_20_ASD_discovery_controls-control20070
N/A
M
Control
Control
173702558
173742218
39661
GRCh38
Deletion
No
glessner_09_ASD_discovery_controls-disccontrol13
NA
Control
NA
NA
173553894
173571491
17598
GRCh38
Duplication
No
glessner_09_ASD_discovery_controls-disccontrol14
NA
Control
NA
NA
173553894
173571491
17598
GRCh38
Duplication
No
glessner_09_ASD_discovery_controls-disccontrol15
NA
Control
NA
NA
173553894
173571491
17598
GRCh38
Duplication
No
glessner_09_ASD_discovery_controls-disccontrol16
NA
Control
NA
NA
173553894
173571491
17598
GRCh38
Duplication
No
glessner_09_ASD_discovery_controls-disccontrol17
NA
Control
NA
NA
173553894
173571491
17598
GRCh38
Duplication
No
glessner_09_ASD_discovery_controls-disccontrol18
NA
Control
NA
NA
173553894
173571491
17598
GRCh38
Duplication
No
glessner_09_ASD_discovery_controls-disccontrol19
NA
Control
NA
NA
173553894
173571491
17598
GRCh38
Duplication
No
glessner_09_ASD_discovery_controls-disccontrol20
NA
Control
NA
NA
173553894
173571491
17598
GRCh38
Duplication
No
glessner_09_ASD_discovery_controls-disccontrol21
NA
Control
NA
NA
173553894
173571491
17598
GRCh38
Duplication
No
glessner_09_ASD_discovery_controls-disccontrol22
NA
Control
NA
NA
173553894
173571491
17598
GRCh38
Duplication
No
glessner_09_ASD_discovery_controls-disccontrol23
NA
Control
NA
NA
173553894
173571491
17598
GRCh38
Duplication
No
glessner_09_ASD_discovery_controls-disccontrol24
NA
Control
NA
NA
173553894
173571491
17598
GRCh38
Duplication
No
glessner_09_ASD_discovery_controls-disccontrol25
NA
Control
NA
NA
173553894
173571491
17598
GRCh38
Duplication
No
glessner_09_ASD_discovery_controls-disccontrol26
NA
Control
NA
NA
173553894
173571491
17598
GRCh38
Duplication
No
glessner_09_ASD_discovery_controls-disccontrol27
NA
Control
NA
NA
173553894
173571491
17598
GRCh38
Duplication
No
glessner_09_ASD_discovery_controls-disccontrol28
NA
Control
NA
NA
173553894
173571491
17598
GRCh38
Duplication
No
glessner_09_ASD_discovery_controls-disccontrol29
NA
Control
NA
NA
173553894
173571491
17598
GRCh38
Duplication
No
glessner_09_ASD_discovery_controls-disccontrol30
NA
Control
NA
NA
173553894
173571491
17598
GRCh38
Duplication
No
glessner_09_ASD_discovery_controls-disccontrol31
NA
Control
NA
NA
173553894
173571491
17598
GRCh38
Duplication
No
glessner_09_ASD_discovery_controls-disccontrol32
NA
Control
NA
NA
173553894
173571491
17598
GRCh38
Duplication
No
glessner_09_ASD_discovery_controls-disccontrol33
NA
Control
NA
NA
173553894
173571491
17598
GRCh38
Duplication
No
glessner_09_ASD_discovery_controls-disccontrol34
NA
Control
NA
NA
173553894
173571491
17598
GRCh38
Duplication
No
glessner_09_ASD_discovery_controls-disccontrol35
NA
Control
NA
NA
173553894
173571491
17598
GRCh38
Duplication
No
glessner_09_ASD_discovery_controls-disccontrol36
NA
Control
NA
NA
173553894
173571491
17598
GRCh38
Duplication
No
glessner_09_ASD_discovery_controls-disccontrol37
NA
Control
NA
NA
173553894
173571491
17598
GRCh38
Duplication
No
glessner_09_ASD_discovery_controls-disccontrol38
NA
Control
NA
NA
173553894
173571491
17598
GRCh38
Duplication
No
glessner_09_ASD_discovery_controls-disccontrol39
NA
Control
NA
NA
173553894
173571491
17598
GRCh38
Duplication
No
glessner_09_ASD_discovery_controls-disccontrol40
NA
Control
NA
NA
173553894
173571491
17598
GRCh38
Duplication
No
glessner_09_ASD_discovery_controls-disccontrol41
NA
Control
NA
NA
173553894
173571491
17598
GRCh38
Duplication
No
glessner_09_ASD_discovery_controls-disccontrol42
NA
Control
NA
NA
173553894
173571491
17598
GRCh38
Duplication
No
glessner_09_ASD_discovery_controls-disccontrol43
NA
Control
NA
NA
173553894
173571491
17598
GRCh38
Duplication
No
glessner_09_ASD_discovery_controls-disccontrol44
NA
Control
NA
NA
173553894
173571491
17598
GRCh38
Duplication
No
glessner_09_ASD_discovery_controls-disccontrol45
NA
Control
NA
NA
173553894
173571491
17598
GRCh38
Duplication
No
glessner_09_ASD_discovery_controls-disccontrol46
NA
Control
NA
NA
173553894
173571491
17598
GRCh38
Duplication
No
glessner_09_ASD_discovery_controls-disccontrol47
NA
Control
NA
NA
173553894
173571491
17598
GRCh38
Duplication
No
glessner_09_ASD_discovery_controls-disccontrol48
NA
Control
NA
NA
173553894
173571491
17598
GRCh38
Duplication
No
glessner_09_ASD_discovery_controls-disccontrol49
NA
Control
NA
NA
173553894
173571491
17598
GRCh38
Duplication
No
glessner_09_ASD_discovery_controls-disccontrol50
NA
Control
NA
NA
173553894
173571491
17598
GRCh38
Duplication
No
glessner_09_ASD_discovery_controls-disccontrol51
NA
Control
NA
NA
173553894
173571491
17598
GRCh38
Duplication
No
glessner_09_ASD_discovery_controls-disccontrol52
NA
Control
NA
NA
173553894
173571491
17598
GRCh38
Duplication
No
glessner_09_ASD_discovery_controls-disccontrol53
NA
Control
NA
NA
173553894
173571491
17598
GRCh38
Duplication
No
glessner_09_ASD_discovery_controls-disccontrol54
NA
Control
NA
NA
173553894
173571491
17598
GRCh38
Duplication
No
glessner_09_ASD_discovery_controls-disccontrol55
NA
Control
NA
NA
173553894
173571491
17598
GRCh38
Duplication
No
glessner_09_ASD_discovery_controls-disccontrol56
NA
Control
NA
NA
173553894
173571491
17598
GRCh38
Duplication
No
glessner_09_ASD_discovery_controls-disccontrol57
NA
Control
NA
NA
173553894
173571491
17598
GRCh38
Duplication
No
glessner_09_ASD_discovery_controls-disccontrol58
NA
Control
NA
NA
173553894
173571491
17598
GRCh38
Duplication
No
glessner_09_ASD_discovery_controls-disccontrol59
NA
Control
NA
NA
173553894
173571491
17598
GRCh38
Duplication
No
glessner_09_ASD_discovery_controls-disccontrol60
NA
Control
NA
NA
173553894
173571491
17598
GRCh38
Duplication
No
glessner_09_ASD_discovery_controls-disccontrol61
NA
Control
NA
NA
173553894
173571491
17598
GRCh38
Duplication
No
glessner_09_ASD_discovery_controls-disccontrol62
NA
Control
NA
NA
173553894
173571491
17598
GRCh38
Duplication
No
glessner_09_ASD_discovery_controls-disccontrol63
NA
Control
NA
NA
173553894
173571491
17598
GRCh38
Duplication
No
glessner_09_ASD_discovery_controls-disccontrol64
NA
Control
NA
NA
173553894
173571491
17598
GRCh38
Duplication
No
glessner_09_ASD_replication_controls-repcontrol10
NA
Control
NA
NA
173553894
173571491
17598
GRCh38
Duplication
No
glessner_09_ASD_replication_controls-repcontrol11
NA
Control
NA
NA
173553894
173571491
17598
GRCh38
Duplication
No
glessner_09_ASD_replication_controls-repcontrol12
NA
Control
NA
NA
173553894
173571491
17598
GRCh38
Duplication
No
glessner_09_ASD_replication_controls-repcontrol13
NA
Control
NA
NA
173553894
173571491
17598
GRCh38
Duplication
No
glessner_09_ASD_replication_controls-repcontrol14
NA
Control
NA
NA
173553894
173571491
17598
GRCh38
Duplication
No
glessner_09_ASD_replication_controls-repcontrol15
NA
Control
NA
NA
173553894
173571491
17598
GRCh38
Duplication
No
glessner_09_ASD_replication_controls-repcontrol16
NA
Control
NA
NA
173553894
173571491
17598
GRCh38
Duplication
No
glessner_09_ASD_replication_controls-repcontrol17
NA
Control
NA
NA
173553894
173571491
17598
GRCh38
Duplication
No
glessner_09_ASD_replication_controls-repcontrol18
NA
Control
NA
NA
173553894
173571491
17598
GRCh38
Duplication
No
glessner_09_ASD_replication_controls-repcontrol19
NA
Control
NA
NA
173553894
173571491
17598
GRCh38
Duplication
No
glessner_09_ASD_replication_controls-repcontrol20
NA
Control
NA
NA
173553894
173571491
17598
GRCh38
Duplication
No
glessner_09_ASD_replication_controls-repcontrol21
NA
Control
NA
NA
173553894
173571491
17598
GRCh38
Duplication
No
glessner_09_ASD_replication_controls-repcontrol22
NA
Control
NA
NA
173553894
173571491
17598
GRCh38
Duplication
No
glessner_09_ASD_replication_controls-repcontrol23
NA
Control
NA
NA
173553894
173571491
17598
GRCh38
Duplication
No
glessner_09_ASD_replication_controls-repcontrol24
NA
Control
NA
NA
173553894
173571491
17598
GRCh38
Duplication
No
glessner_09_ASD_replication_controls-repcontrol25
NA
Control
NA
NA
173553894
173571491
17598
GRCh38
Duplication
No
glessner_09_ASD_replication_controls-repcontrol26
NA
Control
NA
NA
173553894
173571491
17598
GRCh38
Duplication
No
glessner_09_ASD_replication_controls-repcontrol27
NA
Control
NA
NA
173553894
173571491
17598
GRCh38
Duplication
No
glessner_09_ASD_replication_controls-repcontrol28
NA
Control
NA
NA
173553894
173571491
17598
GRCh38
Duplication
No
glessner_09_ASD_replication_controls-repcontrol29
NA
Control
NA
NA
173553894
173571491
17598
GRCh38
Duplication
No
glessner_09_ASD_replication_controls-repcontrol30
NA
Control
NA
NA
173553894
173571491
17598
GRCh38
Duplication
No
glessner_09_ASD_replication_controls-repcontrol31
NA
Control
NA
NA
173553894
173571491
17598
GRCh38
Duplication
No
glessner_09_ASD_replication_controls-repcontrol32
NA
Control
NA
NA
173553894
173571491
17598
GRCh38
Duplication
No
glessner_09_ASD_replication_controls-repcontrol33
NA
Control
NA
NA
173553894
173571491
17598
GRCh38
Duplication
No
glessner_09_ASD_replication_controls-repcontrol34
NA
Control
NA
NA
173553894
173571491
17598
GRCh38
Duplication
No
glessner_09_ASD_replication_controls-repcontrol35
NA
Control
NA
NA
173553894
173571491
17598
GRCh38
Duplication
No
glessner_09_ASD_replication_controls-repcontrol36
NA
Control
NA
NA
173553894
173571491
17598
GRCh38
Duplication
No
glessner_09_ASD_replication_controls-repcontrol37
NA
Control
NA
NA
173553894
173571491
17598
GRCh38
Duplication
No
glessner_09_ASD_replication_controls-repcontrol38
NA
Control
NA
NA
173553894
173571491
17598
GRCh38
Duplication
No
glessner_09_ASD_replication_controls-repcontrol39
NA
Control
NA
NA
173553894
173571491
17598
GRCh38
Duplication
No
glessner_09_ASD_replication_controls-repcontrol40
NA
Control
NA
NA
173553894
173571491
17598
GRCh38
Duplication
No
glessner_09_ASD_replication_controls-repcontrol41
NA
Control
NA
NA
173553894
173571491
17598
GRCh38
Duplication
No
glessner_09_ASD_replication_controls-repcontrol42
NA
Control
NA
NA
173553894
173571491
17598
GRCh38
Duplication
No
glessner_09_ASD_replication_controls-repcontrol43
NA
Control
NA
NA
173553894
173571491
17598
GRCh38
Duplication
No
glessner_09_ASD_replication_controls-repcontrol44
NA
Control
NA
NA
173553894
173571491
17598
GRCh38
Duplication
No
glessner_09_ASD_replication_controls-repcontrol45
NA
Control
NA
NA
173553894
173571491
17598
GRCh38
Duplication
No
glessner_09_ASD_replication_controls-repcontrol46
NA
Control
NA
NA
173553894
173571491
17598
GRCh38
Duplication
No
glessner_09_ASD_replication_controls-repcontrol47
NA
Control
NA
NA
173553894
173571491
17598
GRCh38
Duplication
No
glessner_09_ASD_replication_controls-repcontrol48
NA
Control
NA
NA
173553894
173571491
17598
GRCh38
Duplication
No
glessner_09_ASD_replication_controls-repcontrol49
NA
Control
NA
NA
173553894
173571491
17598
GRCh38
Duplication
No
levy_11_ASD_discovery_controls-12101.s1
NA
M
Control
NA
NA
174820175
174918665
98491
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11012.s1
6.7
F
Control (matched sibling)
NA
NA
175364178
175365610
1433
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11029.s1
7.8
M
Control (matched sibling)
NA
NA
173521663
173571491
49829
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11043.s1
11.5
M
Control (matched sibling)
NA
NA
174383911
174391348
7438
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11052.s1
7.9
M
Control (matched sibling)
NA
NA
175364178
175365610
1433
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11077.s1
14.8
M
Control (matched sibling)
NA
NA
175364178
175365610
1433
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11077.s1
14.8
M
Control (matched sibling)
NA
NA
173521663
173571491
49829
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11099.s1
14.5
F
Control (matched sibling)
NA
NA
173521663
173571491
49829
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11106.s1
7.2
M
Control (matched sibling)
NA
NA
175364178
175365610
1433
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11118.s1
13.4
M
Control (matched sibling)
NA
NA
175364178
175369601
5424
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11132.s1
10.7
M
Control (matched sibling)
NA
NA
175364178
175365610
1433
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11168.s1
7.9
M
Control (matched sibling)
NA
NA
173521663
173571491
49829
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11194.s1
10.7
M
Control (matched sibling)
NA
NA
175364178
175365610
1433
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11196.s1
10
M
Control (matched sibling)
NA
NA
173521663
173571491
49829
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11219.s1
7
F
Control (matched sibling)
NA
NA
173521663
173571491
49829
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11233.s1
4.7
M
Control (matched sibling)
NA
NA
175364178
175365610
1433
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11234.s1
7.5
F
Control (matched sibling)
NA
NA
175186678
175195966
9289
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11247.s1
4.7
F
Control (matched sibling)
NA
NA
175364178
175369601
5424
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11257.s1
4.1
M
Control (matched sibling)
NA
NA
175364178
175365610
1433
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11266.s1
5.8
F
Control (matched sibling)
NA
NA
175364178
175365610
1433
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11285.s1
16.4
M
Control (matched sibling)
NA
NA
175364178
175365610
1433
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11298.s1
13.4
M
Control (matched sibling)
NA
NA
175364178
175365610
1433
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11312.s1
12.6
M
Control (matched sibling)
NA
NA
175364178
175365610
1433
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11312.s1
12.6
M
Control (matched sibling)
NA
NA
173521663
173571491
49829
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11325.s1
12.3
M
Control (matched sibling)
NA
NA
175364178
175365610
1433
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11327.s1
9.5
F
Control (matched sibling)
NA
NA
173521663
173571491
49829
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11330.s1
11.8
F
Control (matched sibling)
NA
NA
175364178
175365610
1433
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11336.s1
12.9
F
Control (matched sibling)
NA
NA
175364178
175365610
1433
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11348.s1
9.2
F
Control (matched sibling)
NA
NA
173521663
173571491
49829
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11365.s1
13.1
F
Control (matched sibling)
NA
NA
175364178
175365610
1433
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11367.s1
4.6
F
Control (matched sibling)
NA
NA
175353050
175365610
12561
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11375.s1
4.6
F
Control (matched sibling)
NA
NA
175364178
175365610
1433
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11398.s1
13.8
M
Control (matched sibling)
NA
NA
175364178
175365610
1433
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11463.s1
12.7
F
Control (matched sibling)
NA
NA
175364178
175365610
1433
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11466.s1
7.3
F
Control (matched sibling)
NA
NA
175364178
175365610
1433
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11471.s1
7.8
F
Control (matched sibling)
NA
NA
175364178
175365610
1433
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11499.s1
12.9
M
Control (matched sibling)
NA
NA
175364178
175365610
1433
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11502.s1
13.2
M
Control (matched sibling)
NA
NA
175364178
175365610
1433
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11518.s1
12.2
F
Control (matched sibling)
NA
NA
175364178
175365610
1433
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11526.s1
7.9
F
Control (matched sibling)
NA
NA
173521663
173571491
49829
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11536.s1
4.2
F
Control (matched sibling)
NA
NA
173521663
173571491
49829
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11537.s1
10.3
F
Control (matched sibling)
NA
NA
173521663
173571491
49829
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11552.s1
6
F
Control (matched sibling)
NA
NA
175364178
175365610
1433
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11563.s1
9.3
F
Control (matched sibling)
NA
NA
175364178
175365610
1433
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11580.s1
11.8
M
Control (matched sibling)
NA
NA
175364178
175365610
1433
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11592.s1
8
F
Control (matched sibling)
NA
NA
173528784
173571809
43026
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11592.s1
8
F
Control (matched sibling)
NA
NA
175364178
175369601
5424
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11615.s1
10.7
F
Control (matched sibling)
NA
NA
175364178
175365610
1433
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11630.s1
8.3
M
Control (matched sibling)
NA
NA
175364178
175365610
1433
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11665.s1
12.9
M
Control (matched sibling)
NA
NA
173521663
173571809
50147
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11797.s1
12.2
F
Control (matched sibling)
NA
NA
175364178
175365610
1433
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11812.s1
6.3
F
Control (matched sibling)
NA
NA
175364178
175365610
1433
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11831.s1
7.5
F
Control (matched sibling)
NA
NA
175364178
175365610
1433
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11834.s1
8.3
M
Control (matched sibling)
NA
NA
173521663
173571809
50147
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11857.s1
12.5
F
Control (matched sibling)
NA
NA
173521663
173571809
50147
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11879.s1
8.1
M
Control (matched sibling)
NA
NA
175364178
175365610
1433
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11909.s1
5.7
M
Control (matched sibling)
NA
NA
175364178
175365610
1433
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11909.s1
5.7
M
Control (matched sibling)
NA
NA
173524544
173571809
47266
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11916.s1
6.9
F
Control (matched sibling)
NA
NA
173539021
173571809
32789
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11924.s1
9.7
F
Control (matched sibling)
NA
NA
173528784
173571809
43026
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11946.s1
12.9
M
Control (matched sibling)
NA
NA
173521663
173571809
50147
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11954.s1
6.8
F
Control (matched sibling)
NA
NA
175364178
175365610
1433
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11962.s1
7.8
M
Control (matched sibling)
NA
NA
175364178
175365610
1433
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12007.s1
10.9
M
Control (matched sibling)
NA
NA
175364178
175365610
1433
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12020.s1
13.8
M
Control (matched sibling)
NA
NA
173518578
173571491
52914
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-12073.s1
7.3
F
Control (matched sibling)
NA
NA
175364178
175365610
1433
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12083.s1
5.5
F
Control (matched sibling)
NA
NA
175364178
175365610
1433
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12101.s1
5.1
M
Control (matched sibling)
NA
NA
174822470
174920405
97936
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12157.s1
12.8
M
Control (matched sibling)
NA
NA
173521663
173571809
50147
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-12173.s1
4.1
M
Control (matched sibling)
NA
NA
173521663
173571809
50147
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-12175.s1
6.7
F
Control (matched sibling)
NA
NA
175364178
175365610
1433
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12185.s1
4.9
F
Control (matched sibling)
NA
NA
173521663
173571809
50147
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-12206.s1
13.1
M
Control (matched sibling)
NA
NA
175364178
175365610
1433
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12211.s1
11.2
F
Control (matched sibling)
NA
NA
175364178
175365610
1433
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12220.s1
16.1
M
Control (matched sibling)
NA
NA
174898586
174911625
13040
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12261.s1
21.5
M
Control (matched sibling)
NA
NA
175364178
175365610
1433
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12300.s1
4.8
F
Control (matched sibling)
NA
NA
175364178
175365610
1433
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12323.s1
4
F
Control (matched sibling)
NA
NA
175364178
175365610
1433
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12323.s1
4
F
Control (matched sibling)
NA
NA
173524544
173571809
47266
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-12361.s1
7.3
M
Control (matched sibling)
NA
NA
175364178
175365610
1433
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12373.s1
11.7
F
Control (matched sibling)
NA
NA
173521663
173571809
50147
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-12377.s1
20.6
F
Control (matched sibling)
NA
NA
175364178
175365610
1433
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12403.s1
9.7
F
Control (matched sibling)
NA
NA
175364178
175365610
1433
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12407.s1
4.8
F
Control (matched sibling)
NA
NA
175364178
175365610
1433
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12460.s1
7
M
Control (matched sibling)
NA
NA
173537944
173571809
33866
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-12478.s1
14.5
M
Control (matched sibling)
NA
NA
173357636
173390833
33198
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12481.s1
9
M
Control (matched sibling)
NA
NA
175364178
175365610
1433
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12492.s1
13.1
M
Control (matched sibling)
NA
NA
173515564
173571809
56246
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-12536.s1
4.9
F
Control (matched sibling)
NA
NA
175364178
175365610
1433
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12540.s1
4.5
F
Control (matched sibling)
NA
NA
175364178
175365610
1433
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12572.s1
6.6
F
Control (matched sibling)
NA
NA
175364178
175365610
1433
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12597.s1
5.3
F
Control (matched sibling)
NA
NA
175364178
175365610
1433
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12602.s1
6.8
F
Control (matched sibling)
NA
NA
175364178
175365610
1433
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12618.s1
6.8
M
Control (matched sibling)
NA
NA
173515564
173571809
56246
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-12623.s1
8.8
M
Control (matched sibling)
NA
NA
175364178
175365610
1433
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12624.s1
4.1
F
Control (matched sibling)
NA
NA
175405304
175411349
6046
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12650.s1
4.7
F
Control (matched sibling)
NA
NA
175364178
175365610
1433
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12674.s1
4.6
F
Control (matched sibling)
NA
NA
175364178
175365610
1433
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12681.s1
12.8
F
Control (matched sibling)
NA
NA
175364178
175365610
1433
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12682.s1
8.1
M
Control (matched sibling)
NA
NA
173521663
173571809
50147
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-12715.s1
4.2
F
Control (matched sibling)
NA
NA
175364178
175365610
1433
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12736.s1
7.1
F
Control (matched sibling)
NA
NA
175364178
175365610
1433
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12749.s1
4.3
F
Control (matched sibling)
NA
NA
175364178
175365610
1433
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12780.s1
5.9
M
Control (matched sibling)
NA
NA
175364178
175365610
1433
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12796.s1
6.8
F
Control (matched sibling)
NA
NA
173521663
173571809
50147
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-12799.s1
9
M
Control (matched sibling)
NA
NA
173521663
173571809
50147
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-12871.s1
17.4
F
Control (matched sibling)
NA
NA
175364178
175365610
1433
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12908.s1
7.6
M
Control (matched sibling)
NA
NA
175364178
175368755
4578
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12925.s1
14.8
F
Control (matched sibling)
NA
NA
173515564
173571809
56246
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-12956.s1
7.4
F
Control (matched sibling)
NA
NA
175364178
175365610
1433
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-13006.s1
7.5
F
Control (matched sibling)
NA
NA
175359897
175368755
8859
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-13016.s1
9.5
F
Control (matched sibling)
NA
NA
175364178
175365610
1433
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-13021.s1
7.3
F
Control (matched sibling)
NA
NA
175364178
175365610
1433
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-13036.s1
10.2
F
Control (matched sibling)
NA
NA
175364178
175365610
1433
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-13041.s1
9
M
Control (matched sibling)
NA
NA
175364178
175365610
1433
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-13041.s1
9
M
Control (matched sibling)
NA
NA
173524544
173571809
47266
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-13048.s1
15.6
F
Control (matched sibling)
NA
NA
173532471
173571809
39339
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-13053.s1
6.6
M
Control (matched sibling)
NA
NA
175364178
175365610
1433
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-13077.s1
13.9
M
Control (matched sibling)
NA
NA
175364178
175365610
1433
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-13077.s1
13.9
M
Control (matched sibling)
NA
NA
173530352
173571809
41458
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-13083.s1
9.8
F
Control (matched sibling)
NA
NA
175364178
175364803
626
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-13136.s1
4.3
F
Control (matched sibling)
NA
NA
175364178
175365610
1433
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-13136.s1
4.3
F
Control (matched sibling)
NA
NA
173518578
173571809
53232
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-13166.s1
5.6
M
Control (matched sibling)
NA
NA
175364178
175365610
1433
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-13168.s1
4.7
F
Control (matched sibling)
NA
NA
173532471
173571809
39339
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-13226.s1
10.3
F
Control (matched sibling)
NA
NA
173532471
173571809
39339
GRCh38
Duplication
No
Cases
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
bitar_19_ASD_discovery_cases-case76
qPCR
Paternal
RNU6-1233P,NAALADL2
cucinotta_23_ASD_discovery_cases-case118
De novo
NLGN1
cucinotta_23_ASD_discovery_cases-case429
Paternal
NLGN1
gai_11_ASD_replication_cases-AU011704
Inherited
ECT2
gai_11_ASD_replication_cases-AU011705
Inherited
ECT2
gai_11_ASD_replication_cases-AU024104
Inherited
0 genes
girirajan_13a_ASD_discovery_cases-13697.p1
aCGH (NimbleGen 135K array)
Maternal
Simplex
Unknown
RN7SKP40,NLGN1,NAALADL2
glessner_09_ASD_discovery_cases-10453_59504
Unknown
Unknown
NA
NLGN1
glessner_09_ASD_discovery_cases-1083_003
Unknown
Unknown
NA
NLGN1
glessner_09_ASD_discovery_cases-1145_004
Unknown
Unknown
NA
NLGN1
glessner_09_ASD_discovery_cases-1160_005
Unknown
Unknown
NA
NLGN1
glessner_09_ASD_discovery_cases-12690_63391
Unknown
Unknown
NA
NLGN1
glessner_09_ASD_discovery_cases-12751_63574
Unknown
Unknown
NA
NLGN1
glessner_09_ASD_discovery_cases-13724_65457
Unknown
Unknown
NA
NLGN1
glessner_09_ASD_discovery_cases-143454602
Unknown
Unknown
NA
NLGN1
glessner_09_ASD_discovery_cases-17356_73351
Unknown
Unknown
NA
NLGN1
glessner_09_ASD_discovery_cases-18441_74921
Unknown
Unknown
NA
NLGN1
glessner_09_ASD_discovery_cases-2462_003
Unknown
Unknown
NA
NLGN1
glessner_09_ASD_discovery_cases-30005.205
Unknown
Unknown
NA
NLGN1
glessner_09_ASD_discovery_cases-3797499772
Unknown
Unknown
NA
NLGN1
glessner_09_ASD_discovery_cases-3823.202
Unknown
Unknown
NA
NLGN1
glessner_09_ASD_discovery_cases-4546_29387
Unknown
Unknown
NA
NLGN1
glessner_09_ASD_discovery_cases-5071_003
Unknown
Unknown
NA
NLGN1
glessner_09_ASD_discovery_cases-6594_45595
Unknown
Unknown
NA
NLGN1
glessner_09_ASD_discovery_cases-7164992474
Unknown
Unknown
NA
NLGN1
glessner_09_ASD_discovery_cases-8660947515
Unknown
Unknown
NA
NLGN1
glessner_09_ASD_discovery_cases-A219403
Unknown
Unknown
NA
NLGN1
glessner_09_ASD_discovery_cases-AU02003
Unknown
Unknown
NA
NLGN1
glessner_09_ASD_discovery_cases-AU10703
Unknown
Unknown
NA
NLGN1
glessner_09_ASD_discovery_cases-AU13704
Unknown
Unknown
NA
NLGN1
glessner_09_ASD_discovery_cases-AU21104
Unknown
Unknown
NA
NLGN1
glessner_09_ASD_discovery_cases-AU42904
Unknown
Unknown
NA
NLGN1
glessner_09_ASD_discovery_cases-AU43003
Unknown
Unknown
NA
NLGN1
glessner_09_ASD_discovery_cases-AU45804
Unknown
Unknown
NA
NLGN1
glessner_09_ASD_discovery_cases-AU50804
Unknown
Unknown
NA
NLGN1
glessner_09_ASD_discovery_cases-AU72304
Unknown
Unknown
NA
NLGN1
glessner_09_ASD_discovery_cases-B212403
Unknown
Unknown
NA
NLGN1
glessner_09_ASD_discovery_cases-B221003
Unknown
Unknown
NA
NLGN1
glessner_09_ASD_discovery_cases-C205204
Unknown
Unknown
NA
NLGN1
glessner_09_ASD_discovery_cases-C205603
Unknown
Unknown
NA
NLGN1
glessner_09_ASD_discovery_cases-C209603
Unknown
Unknown
NA
NLGN1
glessner_09_ASD_discovery_cases-IC116498
Unknown
Unknown
NA
NLGN1
glessner_09_ASD_discovery_cases-NIMH_157-1116-001_05C48662
Unknown
Unknown
NA
NLGN1
glessner_09_ASD_discovery_cases-NIMH_157-1137-001_06C53420A
Unknown
Unknown
NA
NLGN1
glessner_09_ASD_discovery_cases-NIMH_157-1144-001_06C53895A
Unknown
Unknown
NA
NLGN1
glessner_09_ASD_discovery_cases-NIMH_157-1152-001_06C57345A
Unknown
Unknown
NA
NLGN1
glessner_09_ASD_discovery_cases-UWash_GS_200711180_3638
Unknown
Unknown
NA
NLGN1
glessner_09_ASD_replication_cases-AU002204
Unknown
Unknown
NA
NLGN1
glessner_09_ASD_replication_cases-AU0081303
Unknown
Unknown
NA
NLGN1
glessner_09_ASD_replication_cases-AU008804
Unknown
Unknown
NA
NLGN1
glessner_09_ASD_replication_cases-AU010211
Unknown
Unknown
NA
NLGN1
glessner_09_ASD_replication_cases-AU012704
Unknown
Unknown
NA
NLGN1
glessner_09_ASD_replication_cases-AU014004
Unknown
Unknown
NA
NLGN1
glessner_09_ASD_replication_cases-AU018010
qPCR
Unknown
Unknown
NA
NLGN1
glessner_09_ASD_replication_cases-AU020003
qPCR
Unknown
Unknown
NA
NLGN1
glessner_09_ASD_replication_cases-AU027704
Unknown
Unknown
NA
NLGN1
glessner_09_ASD_replication_cases-AU028503
Unknown
Unknown
NA
NLGN1
glessner_09_ASD_replication_cases-AU029303
Unknown
Unknown
NA
NLGN1
glessner_09_ASD_replication_cases-AU029304
Unknown
Unknown
NA
NLGN1
glessner_09_ASD_replication_cases-AU048303
Unknown
Unknown
NA
NLGN1
glessner_09_ASD_replication_cases-AU048304
Unknown
Unknown
NA
NLGN1
glessner_09_ASD_replication_cases-AU054304
Unknown
Unknown
NA
NLGN1
glessner_09_ASD_replication_cases-AU065404
Unknown
Unknown
NA
NLGN1
glessner_09_ASD_replication_cases-AU065405
Unknown
Unknown
NA
NLGN1
glessner_09_ASD_replication_cases-AU065605
Unknown
Unknown
NA
NLGN1
glessner_09_ASD_replication_cases-AU065606
Unknown
Unknown
NA
NLGN1
glessner_09_ASD_replication_cases-AU065607
Unknown
Unknown
NA
NLGN1
glessner_09_ASD_replication_cases-AU077303
Unknown
Unknown
NA
NLGN1
glessner_09_ASD_replication_cases-AU078704
Unknown
Unknown
NA
NLGN1
glessner_09_ASD_replication_cases-AU079004
Unknown
Unknown
NA
NLGN1
glessner_09_ASD_replication_cases-AU079904
Unknown
Unknown
NA
NLGN1
glessner_09_ASD_replication_cases-AU079905
Unknown
Unknown
NA
NLGN1
glessner_09_ASD_replication_cases-AU082505
Unknown
Unknown
NA
NLGN1
glessner_09_ASD_replication_cases-AU083003
Unknown
Unknown
NA
NLGN1
glessner_09_ASD_replication_cases-AU083004
Unknown
Unknown
NA
NLGN1
glessner_09_ASD_replication_cases-AU083603
Unknown
Unknown
NA
NLGN1
glessner_09_ASD_replication_cases-AU083604
Unknown
Unknown
NA
NLGN1
glessner_09_ASD_replication_cases-AU084505
Unknown
Unknown
NA
NLGN1
glessner_09_ASD_replication_cases-AU0947303
Unknown
Unknown
NA
NLGN1
glessner_09_ASD_replication_cases-AU0955301
Unknown
Unknown
NA
NLGN1
glessner_09_ASD_replication_cases-AU0955302
Unknown
Unknown
NA
NLGN1
glessner_09_ASD_replication_cases-AU0955303
Unknown
Unknown
NA
NLGN1
glessner_09_ASD_replication_cases-AU0976301
Unknown
Unknown
NA
NLGN1
glessner_09_ASD_replication_cases-AU0976303
Unknown
Unknown
NA
NLGN1
glessner_09_ASD_replication_cases-AU0979302
Unknown
Unknown
NA
NLGN1
glessner_09_ASD_replication_cases-AU0993301
Unknown
Unknown
NA
NLGN1
glessner_09_ASD_replication_cases-AU0994301
Unknown
Unknown
NA
NLGN1
glessner_09_ASD_replication_cases-AU0994302
Unknown
Unknown
NA
NLGN1
glessner_09_ASD_replication_cases-AU1000303
Unknown
Unknown
NA
NLGN1
glessner_09_ASD_replication_cases-AU1047301
Unknown
Unknown
NA
NLGN1
glessner_09_ASD_replication_cases-AU1053301
Unknown
Unknown
NA
NLGN1
glessner_09_ASD_replication_cases-AU1073301
Unknown
Unknown
NA
NLGN1
glessner_09_ASD_replication_cases-AU1107301
Unknown
Unknown
NA
NLGN1
glessner_09_ASD_replication_cases-AU1137202
Unknown
Unknown
NA
NLGN1
glessner_09_ASD_replication_cases-AU1179302
Unknown
Unknown
NA
NLGN1
glessner_09_ASD_replication_cases-AU1221302
Unknown
Unknown
NA
NLGN1
glessner_09_ASD_replication_cases-AU1261301
Unknown
Unknown
NA
NLGN1
glessner_09_ASD_replication_cases-AU1317303
Unknown
Unknown
NA
NLGN1
glessner_09_ASD_replication_cases-AU1331303
Unknown
Unknown
NA
NLGN1
glessner_09_ASD_replication_cases-AU1333301
Unknown
Unknown
NA
NLGN1
glessner_09_ASD_replication_cases-AU1333302
Unknown
Unknown
NA
NLGN1
glessner_09_ASD_replication_cases-AU1347301
Unknown
Unknown
NA
NLGN1
glessner_09_ASD_replication_cases-AU1357304
Unknown
Unknown
NA
NLGN1
glessner_09_ASD_replication_cases-AU1411302
Unknown
Unknown
NA
NLGN1
glessner_09_ASD_replication_cases-AU1432302
Unknown
Unknown
NA
NLGN1
glessner_09_ASD_replication_cases-AU1456302
Unknown
Unknown
NA
NLGN1
glessner_09_ASD_replication_cases-AU1470303
Unknown
Unknown
NA
NLGN1
glessner_09_ASD_replication_cases-AU1559301
Unknown
Unknown
NA
NLGN1
glessner_09_ASD_replication_cases-AU1559302
Unknown
Unknown
NA
NLGN1
glessner_09_ASD_replication_cases-AU1559303
Unknown
Unknown
NA
NLGN1
glessner_09_ASD_replication_cases-AU1587302
Unknown
Unknown
NA
NLGN1
glessner_09_ASD_replication_cases-AU1614301
Unknown
Unknown
NA
NLGN1
glessner_09_ASD_replication_cases-AU1614302
Unknown
Unknown
NA
NLGN1
glessner_09_ASD_replication_cases-AU1644302
Unknown
Unknown
NA
NLGN1
glessner_09_ASD_replication_cases-AU1678301
Unknown
Unknown
NA
NLGN1
glessner_09_ASD_replication_cases-AU1678302
Unknown
Unknown
NA
NLGN1
glessner_09_ASD_replication_cases-AU1694302
Unknown
Unknown
NA
NLGN1
glessner_09_ASD_replication_cases-AU1708302
Unknown
Unknown
NA
NLGN1
glessner_09_ASD_replication_cases-AU1805301
Unknown
Unknown
NA
NLGN1
glessner_09_ASD_replication_cases-AU1862301
Unknown
Unknown
NA
NLGN1
glessner_09_ASD_replication_cases-AU1921303
Unknown
Unknown
NA
NLGN1
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002302
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Maternal
Unknown
Unknown
RNU6-1233P,RNU4-91P,RNU6-1317P,NAALADL2-AS1,ACTG1P23,UBE2V1P2,NAALADL2
krumm_15_ASD_discovery_cases-case13697.p1
Omni2.5-4v1
Maternal
Simplex
Not segregated (CNV in unaffected sibling)
NLGN1
leblond_12_ASD_replication_cases-Pintocase5237_3
Maternal
NLGN1
lesca_12_EP_discovery_cases-case3-81
Unknown
Unknown
Unknown
maini_18_ASD/DD/ID_discovery_cases-case84
Paternal
Simplex
Unknown
SLC31A1P1,RNU6-547P,RNU4-4P,ATP5MC1P4,LINC02068,NCEH1,ECT2,SPATA16,NLGN1
nava_13_ASD_discovery_cases-Fam222Proband7567
Paternal
Unknown
Unknown
NLGN1
pinto_10_ASD_discovery_cases-case5210_4
qPCR
paternal
Multiplex
Unknown
NLGN1
poultney_13_ASD_discovery_cases-case00HI1421A
Unknown
Unknown (likely multiplex/AGRE)
Unknown
RNU4-4P,ECT2
prasad_12_ASD_discovery_cases-case85288
Unknown
Unknown
Unknown
NAALADL2
quintela_17_DD/ID_discovery_cases-caseID_325
Maternal
Unknown
RNU6-1317P,NAALADL2-AS1,UBE2V1P2,NAALADL2
sanders_11_ASD_discovery_cases-11001.p1
Paternal
Simplex (trio)
NA
NAALADL2
sanders_11_ASD_discovery_cases-11012.p1
Maternal
Simplex (quad-proband matched)
Not segregated
NAALADL2
sanders_11_ASD_discovery_cases-11014.p1
Paternal
Simplex (quad-proband matched)
Segregated
NAALADL2
sanders_11_ASD_discovery_cases-11017.p1
Paternal
Simplex (quad-proband matched)
Not segregated
NAALADL2
sanders_11_ASD_discovery_cases-11029.p1
Maternal
Simplex (quad-proband matched)
Not segregated
NLGN1
sanders_11_ASD_discovery_cases-11043.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11044.p1
Maternal
Simplex (trio)
NA
NLGN1
sanders_11_ASD_discovery_cases-11045.p1
Paternal
Simplex (quad-proband matched)
Not segregated
NAALADL2
sanders_11_ASD_discovery_cases-11052.p1
Both parents
Simplex (quad-proband matched)
Not segregated
NAALADL2
sanders_11_ASD_discovery_cases-11067.p1
Paternal
Simplex (quad-proband matched)
Not segregated
NAALADL2
sanders_11_ASD_discovery_cases-11074.p1
Paternal
Simplex (quad-proband matched)
Not segregated
NAALADL2
sanders_11_ASD_discovery_cases-11083.p1
Paternal
Simplex (quad-proband matched)
Not segregated
NAALADL2
sanders_11_ASD_discovery_cases-11091.p1
Paternal
Simplex (quad-proband matched)
Segregated
NLGN1
sanders_11_ASD_discovery_cases-11092.p1
Maternal
Simplex (quad-proband matched)
Not segregated
NLGN1
sanders_11_ASD_discovery_cases-11099.p1
Maternal
Simplex (quad-proband matched)
Not segregated
NLGN1
sanders_11_ASD_discovery_cases-11118.p1
Maternal
Simplex (quad-proband matched)
Not segregated
NAALADL2
sanders_11_ASD_discovery_cases-11120.p1
Maternal
Simplex (quad-proband matched)
Not segregated
NLGN1
sanders_11_ASD_discovery_cases-11131.p1
Paternal
Simplex (trio)
NA
NAALADL2
sanders_11_ASD_discovery_cases-11133.p1
Paternal
Simplex (trio)
NA
NAALADL2
sanders_11_ASD_discovery_cases-11168.p1
Maternal
Simplex (quad-proband matched)
Not segregated
NLGN1
sanders_11_ASD_discovery_cases-11189.p1
Both parents
Simplex (quad-proband matched)
Not segregated
NAALADL2
sanders_11_ASD_discovery_cases-11194.p1
Both parents
Simplex (quad-proband matched)
Not segregated
NAALADL2
sanders_11_ASD_discovery_cases-11196.p1
Maternal
Simplex (quad-proband matched)
Not segregated
NLGN1
sanders_11_ASD_discovery_cases-11198.p1
Both parents
Simplex (quad-proband matched)
Not segregated
NAALADL2
sanders_11_ASD_discovery_cases-11199.p1
Maternal
Simplex (quad-proband matched)
Not segregated
NAALADL2
sanders_11_ASD_discovery_cases-11203.p1
Paternal
Simplex (quad-proband matched)
Not segregated
NAALADL2
sanders_11_ASD_discovery_cases-11207.p1
Paternal
Simplex (quad-proband matched)
Not segregated
NLGN1
sanders_11_ASD_discovery_cases-11227.p1
Maternal
Simplex (quad-proband matched)
Not segregated
NAALADL2
sanders_11_ASD_discovery_cases-11233.p1
Paternal
Simplex (quad-proband matched)
Not segregated
NAALADL2
sanders_11_ASD_discovery_cases-11257.p1
Both parents
Simplex (quad-proband matched)
Not segregated
NAALADL2
sanders_11_ASD_discovery_cases-11262.p1
Paternal
Simplex (quad-proband matched)
Not segregated
NAALADL2
sanders_11_ASD_discovery_cases-11266.p1
Both parents
Simplex (quad-proband matched)
Not segregated
NAALADL2
sanders_11_ASD_discovery_cases-11276.p1
Maternal
Simplex (quad-proband unmatched)
Unknown
NLGN1
sanders_11_ASD_discovery_cases-11301.p1
Paternal
Simplex (quad-proband matched)
Not segregated
NAALADL2
sanders_11_ASD_discovery_cases-11309.p1
Paternal
Simplex (quad-proband matched)
Not segregated
NLGN1
sanders_11_ASD_discovery_cases-11312.p1
Paternal
Simplex (quad-proband matched)
Not segregated
NLGN1
sanders_11_ASD_discovery_cases-11327.p1
Maternal
Simplex (quad-proband matched)
Not segregated
NAALADL2
sanders_11_ASD_discovery_cases-11336.p1
Both parents
Simplex (quad-proband matched)
Not segregated
NAALADL2
sanders_11_ASD_discovery_cases-11347.p1
Both parents
Simplex (quad-proband matched)
Not segregated
NAALADL2
sanders_11_ASD_discovery_cases-11365.p1
Maternal
Simplex (quad-proband matched)
Not segregated
NAALADL2
sanders_11_ASD_discovery_cases-11370.p1
Both parents
Simplex (trio)
NA
NAALADL2
sanders_11_ASD_discovery_cases-11391.p1
Both parents
Simplex (quad-proband matched)
Not segregated
NAALADL2
sanders_11_ASD_discovery_cases-11395.p1
Both parents
Simplex (quad-proband matched)
Not segregated
NAALADL2
sanders_11_ASD_discovery_cases-11397.p1
Paternal
Simplex (quad-proband matched)
Not segregated
NAALADL2
sanders_11_ASD_discovery_cases-11432.p1
Maternal
Simplex (quad-proband matched)
Not segregated
NAALADL2
sanders_11_ASD_discovery_cases-11436.p1
Both parents
Simplex (quad-proband matched)
Segregated
NLGN1
sanders_11_ASD_discovery_cases-11447.p1
Maternal
Simplex (quad-proband matched)
Not segregated
NLGN1
sanders_11_ASD_discovery_cases-11450.p1
Maternal
Simplex (quad-proband matched)
Not segregated
NAALADL2
sanders_11_ASD_discovery_cases-11452.p1
Paternal
Simplex (quad-proband matched)
Not segregated
NLGN1
sanders_11_ASD_discovery_cases-11463.p1
Maternal
Simplex (quad-proband matched)
Not segregated
NLGN1
sanders_11_ASD_discovery_cases-11473.p1
Paternal
Simplex (quad-proband matched)
Not segregated
NAALADL2
sanders_11_ASD_discovery_cases-11476.p1
Maternal
Simplex (quad-proband matched)
Not segregated
NLGN1
sanders_11_ASD_discovery_cases-11479.p1
Paternal
Simplex (quad-proband matched)
Not segregated
NAALADL2
sanders_11_ASD_discovery_cases-11499.p1
Paternal
Simplex (quad-proband matched)
Not segregated
NAALADL2
sanders_11_ASD_discovery_cases-11504.p1
Paternal
Simplex (quad-proband matched)
Not segregated
NAALADL2
sanders_11_ASD_discovery_cases-11526.p1
Maternal
Simplex (quad-proband matched)
Not segregated
NLGN1
sanders_11_ASD_discovery_cases-11537.p1
Paternal
Simplex (quad-proband matched)
Not segregated
NLGN1
sanders_11_ASD_discovery_cases-11572.p1
Both parents
Simplex (quad-proband matched)
Not segregated
NAALADL2
sanders_11_ASD_discovery_cases-11584.p1
Both parents
Simplex (quad-proband matched)
Not segregated
NAALADL2
sanders_11_ASD_discovery_cases-11592.p1
Maternal
Simplex (quad-proband matched)
Not segregated
NLGN1
sanders_11_ASD_discovery_cases-11597.p1
Maternal
Simplex (quad-proband matched)
Not segregated
MIR4789,NAALADL2
sanders_11_ASD_discovery_cases-11610.p1
Both parents
Simplex (quad-proband matched)
Not segregated
NAALADL2
sanders_11_ASD_discovery_cases-11612.p1
Paternal
Simplex (trio)
NA
NLGN1
sanders_11_ASD_discovery_cases-11617.p1
Paternal
Simplex (trio)
NA
NAALADL2
sanders_11_ASD_discovery_cases-11630.p1
Both parents
Simplex (quad-proband matched)
Not segregated
NAALADL2
sanders_11_ASD_discovery_cases-11630.p1
Maternal
Simplex (quad-proband matched)
Not segregated
NLGN1
sanders_11_ASD_discovery_cases-11634.p1
Paternal
Simplex (quad-proband matched)
Not segregated
NLGN1
sanders_11_ASD_discovery_cases-11638.p1
Maternal
Simplex (quad-proband matched)
Not segregated
NAALADL2
sanders_11_ASD_discovery_cases-11660.p1
Paternal
Simplex (trio)
NA
NAALADL2
sanders_11_ASD_discovery_cases-11665.p1
Both parents
Simplex (quad-proband matched)
Not segregated
NLGN1
sanders_11_ASD_discovery_cases-11698.p1
Paternal
Simplex (quad-proband unmatched)
Unknown
NLGN1
sanders_11_ASD_discovery_cases-11711.p1
Maternal
Simplex (quad-proband matched)
Not segregated
NLGN1
sanders_11_ASD_discovery_cases-11724.p1
Maternal
Simplex (quad-proband matched)
Not segregated
NAALADL2
sanders_11_ASD_discovery_cases-11733.p1
Paternal
Simplex (trio)
NA
sanders_11_ASD_discovery_cases-11753.p1
Both parents
Simplex (quad-proband matched)
Not segregated
NAALADL2
sanders_11_ASD_discovery_cases-11812.p1
Paternal
Simplex (quad-proband matched)
Not segregated
NAALADL2
sanders_11_ASD_discovery_cases-11845.p1
Maternal
Simplex (quad-proband matched)
Not segregated
NLGN1
sanders_11_ASD_discovery_cases-11846.p1
Paternal
Simplex (trio)
NA
NLGN1
sanders_11_ASD_discovery_cases-11868.p1
Paternal
Simplex (quad-proband matched)
Not segregated
NAALADL2
sanders_11_ASD_discovery_cases-11878.p1
Paternal
Simplex (trio)
NA
NAALADL2
sanders_11_ASD_discovery_cases-11883.p1
Maternal
Simplex (quad-proband matched)
Not segregated
NLGN1
sanders_11_ASD_discovery_cases-11919.p1
Paternal
Simplex (quad-proband matched)
Not segregated
NAALADL2
sanders_11_ASD_discovery_cases-11938.p1
Both parents
Simplex (trio)
NA
NAALADL2
sanders_11_ASD_discovery_cases-11946.p1
Paternal
Simplex (quad-proband matched)
Not segregated
NLGN1
sanders_11_ASD_discovery_cases-11954.p1
Unknown
Simplex (quad-proband matched)
Segregated
NAALADL2
sanders_11_ASD_discovery_cases-11996.p1
Paternal
Simplex (trio)
NA
NAALADL2
sanders_11_ASD_discovery_cases-12010.p1
Paternal
Simplex (quad-proband unmatched)
Unknown
NAALADL2
sanders_11_ASD_discovery_cases-12026.p1
Maternal
Simplex (trio)
NA
NAALADL2
sanders_11_ASD_discovery_cases-12037.p1
Both parents
Simplex (quad-proband matched)
Not segregated
NAALADL2
sanders_11_ASD_discovery_cases-12041.p1
Unknown
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12044.p1
Maternal
Simplex (quad-proband matched)
Not segregated
NAALADL2
sanders_11_ASD_discovery_cases-12051.p1
Both parents
Simplex (quad-proband matched)
Not segregated
NAALADL2
sanders_11_ASD_discovery_cases-12061.p1
Maternal
Simplex (quad-proband matched)
Not segregated
NAALADL2
sanders_11_ASD_discovery_cases-12073.p1
Paternal
Simplex (quad-proband matched)
Not segregated
NAALADL2
sanders_11_ASD_discovery_cases-12093.p1
Paternal
Simplex (trio)
NA
NAALADL2
sanders_11_ASD_discovery_cases-12097.p1
Both parents
Simplex (trio)
NA
NAALADL2
sanders_11_ASD_discovery_cases-12100.p1
Maternal
Simplex (quad-proband matched)
Not segregated
NAALADL2
sanders_11_ASD_discovery_cases-12108.p1
Maternal
Simplex (quad-proband unmatched)
Unknown
NAALADL2
sanders_11_ASD_discovery_cases-12150.p1
Maternal
Simplex (quad-proband matched)
Not segregated
NLGN1
sanders_11_ASD_discovery_cases-12157.p1
Maternal
Simplex (quad-proband matched)
Not segregated
NLGN1
sanders_11_ASD_discovery_cases-12161.p1
Unknown
Simplex (quad-proband matched)
Not segregated
NAALADL2
sanders_11_ASD_discovery_cases-12175.p1
Maternal
Simplex (quad-proband matched)
Not segregated
NAALADL2
sanders_11_ASD_discovery_cases-12175.p1
Maternal
Simplex (quad-proband matched)
Not segregated
NLGN1
sanders_11_ASD_discovery_cases-12185.p1
Maternal
Simplex (quad-proband matched)
Not segregated
NLGN1
sanders_11_ASD_discovery_cases-12192.p1
Maternal
Simplex (trio)
NA
NLGN1
sanders_11_ASD_discovery_cases-12206.p1
Paternal
Simplex (quad-proband matched)
Not segregated
NAALADL2
sanders_11_ASD_discovery_cases-12221.p1
Paternal
Simplex (quad-proband unmatched)
Unknown
NAALADL2
sanders_11_ASD_discovery_cases-12239.p1
Both parents
Simplex (quad-proband matched)
Not segregated
NAALADL2
sanders_11_ASD_discovery_cases-12241.p1
Maternal
Simplex (quad-proband matched)
Not segregated
NAALADL2
sanders_11_ASD_discovery_cases-12243.p1
Maternal
Simplex (quad-proband matched)
Not segregated
NAALADL2
sanders_11_ASD_discovery_cases-12250.p1
Paternal
Simplex (quad-proband matched)
Not segregated
NAALADL2
sanders_11_ASD_discovery_cases-12260.p1
Maternal
Simplex (trio)
NA
NLGN1
sanders_11_ASD_discovery_cases-12297.p1
Paternal
Simplex (quad-proband matched)
Not segregated
NAALADL2
sanders_11_ASD_discovery_cases-12329.p1
Both parents
Simplex (quad-proband matched)
Not segregated
NAALADL2
sanders_11_ASD_discovery_cases-12335.p1
Maternal
Simplex (quad-proband matched)
Not segregated
NAALADL2
sanders_11_ASD_discovery_cases-12356.p1
Maternal
Simplex (quad-proband matched)
Not segregated
NAALADL2
sanders_11_ASD_discovery_cases-12373.p1
Maternal
Simplex (quad-proband matched)
Not segregated
NLGN1
sanders_11_ASD_discovery_cases-12375.p1
Maternal
Simplex (quad-proband matched)
Not segregated
NAALADL2
sanders_11_ASD_discovery_cases-12392.p1
Paternal
Simplex (trio)
NA
NLGN1
sanders_11_ASD_discovery_cases-12407.p1
Maternal
Simplex (quad-proband matched)
Not segregated
NAALADL2
sanders_11_ASD_discovery_cases-12430.p1
Maternal
Simplex (quad-proband matched)
Not segregated
NAALADL2
sanders_11_ASD_discovery_cases-12454.p1
Both parents
Simplex (trio)
NA
NAALADL2
sanders_11_ASD_discovery_cases-12460.p1
Maternal
Simplex (quad-proband matched)
Not segregated
NLGN1
sanders_11_ASD_discovery_cases-12462.p1
Maternal
Simplex (quad-proband matched)
Not segregated
NAALADL2
sanders_11_ASD_discovery_cases-12483.p1
Paternal
Simplex (quad-proband matched)
Not segregated
NAALADL2
sanders_11_ASD_discovery_cases-12534.p1
Maternal
Simplex (quad-proband matched)
Not segregated
NLGN1
sanders_11_ASD_discovery_cases-12540.p1
Maternal
Simplex (quad-proband matched)
Not segregated
NAALADL2
sanders_11_ASD_discovery_cases-12555.p1
Paternal
Simplex (quad-proband matched)
Not segregated
NLGN1
sanders_11_ASD_discovery_cases-12597.p1
Both parents
Simplex (quad-proband matched)
Not segregated
NAALADL2
sanders_11_ASD_discovery_cases-12602.p1
Paternal
Simplex (quad-proband matched)
Not segregated
NAALADL2
sanders_11_ASD_discovery_cases-12616.p1
Paternal
Simplex (quad-proband matched)
Not segregated
NAALADL2
sanders_11_ASD_discovery_cases-12618.p1
Both parents
Simplex (quad-proband matched)
Not segregated
NLGN1
sanders_11_ASD_discovery_cases-12656.p1
Paternal
Simplex (quad-proband matched)
Not segregated
NAALADL2
sanders_11_ASD_discovery_cases-12701.p1
Maternal
Simplex (quad-proband matched)
Not segregated
NLGN1
sanders_11_ASD_discovery_cases-12710.p1
Maternal
Simplex (trio)
NA
NLGN1
sanders_11_ASD_discovery_cases-12722.p1
Paternal
Simplex (quad-proband matched)
Not segregated
NAALADL2
sanders_11_ASD_discovery_cases-12764.p1
Maternal
Simplex (quad-proband matched)
Not segregated
NAALADL2
sanders_11_ASD_discovery_cases-12764.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12780.p1
Both parents
Simplex (quad-proband matched)
Not segregated
NAALADL2
sanders_11_ASD_discovery_cases-12796.p1
Paternal
Simplex (quad-proband matched)
Not segregated
NLGN1
sanders_11_ASD_discovery_cases-12805.p1
Both parents
Simplex (trio)
NA
NAALADL2
sanders_11_ASD_discovery_cases-12810.p1
Maternal
Simplex (quad-proband matched)
Not segregated
NAALADL2
sanders_11_ASD_discovery_cases-12879.p1
Both parents
Simplex (quad-proband matched)
Not segregated
NAALADL2
sanders_11_ASD_discovery_cases-12902.p1
Maternal
Simplex (quad-proband matched)
Not segregated
NAALADL2
sanders_11_ASD_discovery_cases-12908.p1
Maternal
Simplex (quad-proband matched)
Not segregated
NAALADL2
sanders_11_ASD_discovery_cases-12921.p1
Maternal
Simplex (quad-proband matched)
Not segregated
NAALADL2
sanders_11_ASD_discovery_cases-12925.p1
Maternal
Simplex (quad-proband matched)
Not segregated
NLGN1
sanders_11_ASD_discovery_cases-12956.p1
Maternal
Simplex (quad-proband matched)
Not segregated
NAALADL2
sanders_11_ASD_discovery_cases-12975.p1
Maternal
Simplex (quad-proband matched)
Not segregated
NLGN1
sanders_11_ASD_discovery_cases-12989.p1
Both parents
Simplex (quad-proband matched)
Not segregated
NAALADL2
sanders_11_ASD_discovery_cases-13016.p1
Both parents
Simplex (quad-proband matched)
Not segregated
NAALADL2
sanders_11_ASD_discovery_cases-13036.p1
Maternal
Simplex (quad-proband matched)
Not segregated
NAALADL2
sanders_11_ASD_discovery_cases-13041.p1
Maternal
Simplex (quad-proband matched)
Not segregated
NAALADL2
sanders_11_ASD_discovery_cases-13048.p1
Maternal
Simplex (quad-proband matched)
Not segregated
NLGN1
sanders_11_ASD_discovery_cases-13050.p1
Paternal
Simplex (quad-proband matched)
Not segregated
NLGN1
sanders_11_ASD_discovery_cases-13056.p1
Paternal
Simplex (trio)
NA
NLGN1
sanders_11_ASD_discovery_cases-13060.p1
Paternal
Simplex (trio)
NA
NAALADL2
sanders_11_ASD_discovery_cases-13065.p1
Paternal
Simplex (trio)
NA
NAALADL2
sanders_11_ASD_discovery_cases-13073.p1
Maternal
Simplex (quad-proband matched)
Not segregated
NLGN1
sanders_11_ASD_discovery_cases-13080.p1
Maternal
Simplex (quad-proband matched)
Not segregated
NAALADL2
sanders_11_ASD_discovery_cases-13083.p1
Paternal
Simplex (quad-proband matched)
Not segregated
NAALADL2
sanders_11_ASD_discovery_cases-13162.p1
Paternal
Simplex (quad-proband matched)
Not segregated
NAALADL2
sanders_11_ASD_discovery_cases-13166.p1
Both parents
Simplex (quad-proband matched)
Not segregated
NAALADL2
sanders_11_ASD_discovery_cases-13175.p1
Maternal
Simplex (quad-proband matched)
Not segregated
NAALADL2
sanders_11_ASD_discovery_cases-13199.p1
Maternal
Simplex (trio)
NA
NAALADL2
sanders_11_ASD_discovery_cases-13226.p1
Paternal
Simplex (quad-proband matched)
Not segregated
NAALADL2
sanders_11_ASD_discovery_cases-13226.p1
Paternal
Simplex (quad-proband matched)
Not segregated
NLGN1
sanders_11_ASD_discovery_cases-13304.p1
Paternal
Simplex (quad-proband unmatched)
Unknown
NAALADL2
sansovic_17_DD/ID/ASD_discovery_cases-case48
Unknown
MTND5P15,RNU6-681P,ASS1P7,RN7SKP52,RNU6-1120P,RNA5SP148,PPIAP75,TBL1XR1-AS1,LINC00501,LINC01014,LINC00578,LINC02015,KCNMB2,KCNMB2-AS1,TBL1XR1
tropeano_16_ASD_discovery_cases-MAAS13
MLPA or aCGH
Unknown
Unknown
Unknown
SLC31A1P1,LINC02068,NCEH1
vaags_11_ASD_discovery_cases-probandF2-003
Unknown
Multiplex
Unknown
MIR4789,NAALADL2
yin_16_ASD_discovery_cases-case157
Unknown
Unknown
Unknown
NAALADL2
zarrei_19_ASD/ADHD/OCD/SCZ_discovery_cases-caseOCD146-JS-1254_188613
RT-qPCR or WGS
Maternal
NLGN1
null
Controls
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
bacchelli_20_ASD_discovery_controls-control10003
Unknown
NAALADL2
bacchelli_20_ASD_discovery_controls-control10415
Unknown
MIR4789,RNU6-1233P,NAALADL2
bacchelli_20_ASD_discovery_controls-control20070
Unknown
NLGN1
glessner_09_ASD_discovery_controls-disccontrol13
Unknown
Unknown
NA
NLGN1
glessner_09_ASD_discovery_controls-disccontrol14
Unknown
Unknown
NA
NLGN1
glessner_09_ASD_discovery_controls-disccontrol15
Unknown
Unknown
NA
NLGN1
glessner_09_ASD_discovery_controls-disccontrol16
Unknown
Unknown
NA
NLGN1
glessner_09_ASD_discovery_controls-disccontrol17
Unknown
Unknown
NA
NLGN1
glessner_09_ASD_discovery_controls-disccontrol18
Unknown
Unknown
NA
NLGN1
glessner_09_ASD_discovery_controls-disccontrol19
Unknown
Unknown
NA
NLGN1
glessner_09_ASD_discovery_controls-disccontrol20
Unknown
Unknown
NA
NLGN1
glessner_09_ASD_discovery_controls-disccontrol21
Unknown
Unknown
NA
NLGN1
glessner_09_ASD_discovery_controls-disccontrol22
Unknown
Unknown
NA
NLGN1
glessner_09_ASD_discovery_controls-disccontrol23
Unknown
Unknown
NA
NLGN1
glessner_09_ASD_discovery_controls-disccontrol24
Unknown
Unknown
NA
NLGN1
glessner_09_ASD_discovery_controls-disccontrol25
Unknown
Unknown
NA
NLGN1
glessner_09_ASD_discovery_controls-disccontrol26
Unknown
Unknown
NA
NLGN1
glessner_09_ASD_discovery_controls-disccontrol27
Unknown
Unknown
NA
NLGN1
glessner_09_ASD_discovery_controls-disccontrol28
Unknown
Unknown
NA
NLGN1
glessner_09_ASD_discovery_controls-disccontrol29
Unknown
Unknown
NA
NLGN1
glessner_09_ASD_discovery_controls-disccontrol30
Unknown
Unknown
NA
NLGN1
glessner_09_ASD_discovery_controls-disccontrol31
Unknown
Unknown
NA
NLGN1
glessner_09_ASD_discovery_controls-disccontrol32
Unknown
Unknown
NA
NLGN1
glessner_09_ASD_discovery_controls-disccontrol33
Unknown
Unknown
NA
NLGN1
glessner_09_ASD_discovery_controls-disccontrol34
Unknown
Unknown
NA
NLGN1
glessner_09_ASD_discovery_controls-disccontrol35
Unknown
Unknown
NA
NLGN1
glessner_09_ASD_discovery_controls-disccontrol36
Unknown
Unknown
NA
NLGN1
glessner_09_ASD_discovery_controls-disccontrol37
Unknown
Unknown
NA
NLGN1
glessner_09_ASD_discovery_controls-disccontrol38
Unknown
Unknown
NA
NLGN1
glessner_09_ASD_discovery_controls-disccontrol39
Unknown
Unknown
NA
NLGN1
glessner_09_ASD_discovery_controls-disccontrol40
Unknown
Unknown
NA
NLGN1
glessner_09_ASD_discovery_controls-disccontrol41
Unknown
Unknown
NA
NLGN1
glessner_09_ASD_discovery_controls-disccontrol42
Unknown
Unknown
NA
NLGN1
glessner_09_ASD_discovery_controls-disccontrol43
Unknown
Unknown
NA
NLGN1
glessner_09_ASD_discovery_controls-disccontrol44
Unknown
Unknown
NA
NLGN1
glessner_09_ASD_discovery_controls-disccontrol45
Unknown
Unknown
NA
NLGN1
glessner_09_ASD_discovery_controls-disccontrol46
Unknown
Unknown
NA
NLGN1
glessner_09_ASD_discovery_controls-disccontrol47
Unknown
Unknown
NA
NLGN1
glessner_09_ASD_discovery_controls-disccontrol48
Unknown
Unknown
NA
NLGN1
glessner_09_ASD_discovery_controls-disccontrol49
Unknown
Unknown
NA
NLGN1
glessner_09_ASD_discovery_controls-disccontrol50
Unknown
Unknown
NA
NLGN1
glessner_09_ASD_discovery_controls-disccontrol51
Unknown
Unknown
NA
NLGN1
glessner_09_ASD_discovery_controls-disccontrol52
Unknown
Unknown
NA
NLGN1
glessner_09_ASD_discovery_controls-disccontrol53
Unknown
Unknown
NA
NLGN1
glessner_09_ASD_discovery_controls-disccontrol54
Unknown
Unknown
NA
NLGN1
glessner_09_ASD_discovery_controls-disccontrol55
Unknown
Unknown
NA
NLGN1
glessner_09_ASD_discovery_controls-disccontrol56
Unknown
Unknown
NA
NLGN1
glessner_09_ASD_discovery_controls-disccontrol57
Unknown
Unknown
NA
NLGN1
glessner_09_ASD_discovery_controls-disccontrol58
Unknown
Unknown
NA
NLGN1
glessner_09_ASD_discovery_controls-disccontrol59
Unknown
Unknown
NA
NLGN1
glessner_09_ASD_discovery_controls-disccontrol60
Unknown
Unknown
NA
NLGN1
glessner_09_ASD_discovery_controls-disccontrol61
Unknown
Unknown
NA
NLGN1
glessner_09_ASD_discovery_controls-disccontrol62
Unknown
Unknown
NA
NLGN1
glessner_09_ASD_discovery_controls-disccontrol63
Unknown
Unknown
NA
NLGN1
glessner_09_ASD_discovery_controls-disccontrol64
Unknown
Unknown
NA
NLGN1
glessner_09_ASD_replication_controls-repcontrol10
Unknown
Unknown
NA
NLGN1
glessner_09_ASD_replication_controls-repcontrol11
Unknown
Unknown
NA
NLGN1
glessner_09_ASD_replication_controls-repcontrol12
Unknown
Unknown
NA
NLGN1
glessner_09_ASD_replication_controls-repcontrol13
Unknown
Unknown
NA
NLGN1
glessner_09_ASD_replication_controls-repcontrol14
Unknown
Unknown
NA
NLGN1
glessner_09_ASD_replication_controls-repcontrol15
Unknown
Unknown
NA
NLGN1
glessner_09_ASD_replication_controls-repcontrol16
Unknown
Unknown
NA
NLGN1
glessner_09_ASD_replication_controls-repcontrol17
Unknown
Unknown
NA
NLGN1
glessner_09_ASD_replication_controls-repcontrol18
Unknown
Unknown
NA
NLGN1
glessner_09_ASD_replication_controls-repcontrol19
Unknown
Unknown
NA
NLGN1
glessner_09_ASD_replication_controls-repcontrol20
Unknown
Unknown
NA
NLGN1
glessner_09_ASD_replication_controls-repcontrol21
Unknown
Unknown
NA
NLGN1
glessner_09_ASD_replication_controls-repcontrol22
Unknown
Unknown
NA
NLGN1
glessner_09_ASD_replication_controls-repcontrol23
Unknown
Unknown
NA
NLGN1
glessner_09_ASD_replication_controls-repcontrol24
Unknown
Unknown
NA
NLGN1
glessner_09_ASD_replication_controls-repcontrol25
Unknown
Unknown
NA
NLGN1
glessner_09_ASD_replication_controls-repcontrol26
Unknown
Unknown
NA
NLGN1
glessner_09_ASD_replication_controls-repcontrol27
Unknown
Unknown
NA
NLGN1
glessner_09_ASD_replication_controls-repcontrol28
Unknown
Unknown
NA
NLGN1
glessner_09_ASD_replication_controls-repcontrol29
Unknown
Unknown
NA
NLGN1
glessner_09_ASD_replication_controls-repcontrol30
Unknown
Unknown
NA
NLGN1
glessner_09_ASD_replication_controls-repcontrol31
Unknown
Unknown
NA
NLGN1
glessner_09_ASD_replication_controls-repcontrol32
Unknown
Unknown
NA
NLGN1
glessner_09_ASD_replication_controls-repcontrol33
Unknown
Unknown
NA
NLGN1
glessner_09_ASD_replication_controls-repcontrol34
Unknown
Unknown
NA
NLGN1
glessner_09_ASD_replication_controls-repcontrol35
Unknown
Unknown
NA
NLGN1
glessner_09_ASD_replication_controls-repcontrol36
Unknown
Unknown
NA
NLGN1
glessner_09_ASD_replication_controls-repcontrol37
Unknown
Unknown
NA
NLGN1
glessner_09_ASD_replication_controls-repcontrol38
Unknown
Unknown
NA
NLGN1
glessner_09_ASD_replication_controls-repcontrol39
Unknown
Unknown
NA
NLGN1
glessner_09_ASD_replication_controls-repcontrol40
Unknown
Unknown
NA
NLGN1
glessner_09_ASD_replication_controls-repcontrol41
Unknown
Unknown
NA
NLGN1
glessner_09_ASD_replication_controls-repcontrol42
Unknown
Unknown
NA
NLGN1
glessner_09_ASD_replication_controls-repcontrol43
Unknown
Unknown
NA
NLGN1
glessner_09_ASD_replication_controls-repcontrol44
Unknown
Unknown
NA
NLGN1
glessner_09_ASD_replication_controls-repcontrol45
Unknown
Unknown
NA
NLGN1
glessner_09_ASD_replication_controls-repcontrol46
Unknown
Unknown
NA
NLGN1
glessner_09_ASD_replication_controls-repcontrol47
Unknown
Unknown
NA
NLGN1
glessner_09_ASD_replication_controls-repcontrol48
Unknown
Unknown
NA
NLGN1
glessner_09_ASD_replication_controls-repcontrol49
Unknown
Unknown
NA
NLGN1
levy_11_ASD_discovery_controls-12101.s1
Paternal
Simplex
NA
NAALADL2
sanders_11_ASD_discovery_controls-11012.s1
Maternal
Simplex (quad)
NA
NAALADL2
sanders_11_ASD_discovery_controls-11029.s1
Maternal
Simplex (quad)
NA
NLGN1
sanders_11_ASD_discovery_controls-11043.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11052.s1
Both parents
Simplex (quad)
NA
NAALADL2
sanders_11_ASD_discovery_controls-11077.s1
Both parents
Simplex (quad)
NA
NAALADL2
sanders_11_ASD_discovery_controls-11077.s1
Maternal
Simplex (quad)
NA
NLGN1
sanders_11_ASD_discovery_controls-11099.s1
Maternal
Simplex (quad)
NA
NLGN1
sanders_11_ASD_discovery_controls-11106.s1
Paternal
Simplex (quad)
NA
NAALADL2
sanders_11_ASD_discovery_controls-11118.s1
Maternal
Simplex (quad)
NA
MIR4789,NAALADL2
sanders_11_ASD_discovery_controls-11132.s1
Both parents
Simplex (quad)
NA
NAALADL2
sanders_11_ASD_discovery_controls-11168.s1
Maternal
Simplex (quad)
NA
NLGN1
sanders_11_ASD_discovery_controls-11194.s1
Both parents
Simplex (quad)
NA
NAALADL2
sanders_11_ASD_discovery_controls-11196.s1
Maternal
Simplex (quad)
NA
NLGN1
sanders_11_ASD_discovery_controls-11219.s1
Maternal
Simplex (quad)
NA
NLGN1
sanders_11_ASD_discovery_controls-11233.s1
Paternal
Simplex (quad)
NA
NAALADL2
sanders_11_ASD_discovery_controls-11234.s1
Paternal
Simplex (quad)
NA
NAALADL2
sanders_11_ASD_discovery_controls-11247.s1
Paternal
Simplex (quad)
NA
MIR4789,NAALADL2
sanders_11_ASD_discovery_controls-11257.s1
Both parents
Simplex (quad)
NA
NAALADL2
sanders_11_ASD_discovery_controls-11266.s1
Both parents
Simplex (quad)
NA
NAALADL2
sanders_11_ASD_discovery_controls-11285.s1
Both parents
Simplex (quad)
NA
NAALADL2
sanders_11_ASD_discovery_controls-11298.s1
Paternal
Simplex (quad)
NA
NAALADL2
sanders_11_ASD_discovery_controls-11312.s1
Maternal
Simplex (quad)
NA
NAALADL2
sanders_11_ASD_discovery_controls-11312.s1
Paternal
Simplex (quad)
NA
NLGN1
sanders_11_ASD_discovery_controls-11325.s1
Both parents
Simplex (quad)
NA
NAALADL2
sanders_11_ASD_discovery_controls-11327.s1
Paternal
Simplex (quad)
NA
NLGN1
sanders_11_ASD_discovery_controls-11330.s1
Paternal
Simplex (quad)
NA
NAALADL2
sanders_11_ASD_discovery_controls-11336.s1
Both parents
Simplex (quad)
NA
NAALADL2
sanders_11_ASD_discovery_controls-11348.s1
Maternal
Simplex (quad)
NA
NLGN1
sanders_11_ASD_discovery_controls-11365.s1
Maternal
Simplex (quad)
NA
NAALADL2
sanders_11_ASD_discovery_controls-11367.s1
Maternal
Simplex (quad)
NA
NAALADL2
sanders_11_ASD_discovery_controls-11375.s1
Both parents
Simplex (quad)
NA
NAALADL2
sanders_11_ASD_discovery_controls-11398.s1
Maternal
Simplex (quad)
NA
NAALADL2
sanders_11_ASD_discovery_controls-11463.s1
Maternal
Simplex (quad)
NA
NAALADL2
sanders_11_ASD_discovery_controls-11466.s1
Paternal
Simplex (quad)
NA
NAALADL2
sanders_11_ASD_discovery_controls-11471.s1
Paternal
Simplex (quad)
NA
NAALADL2
sanders_11_ASD_discovery_controls-11499.s1
Paternal
Simplex (quad)
NA
NAALADL2
sanders_11_ASD_discovery_controls-11502.s1
Maternal
Simplex (quad)
NA
NAALADL2
sanders_11_ASD_discovery_controls-11518.s1
Maternal
Simplex (quad)
NA
NAALADL2
sanders_11_ASD_discovery_controls-11526.s1
Maternal
Simplex (quad)
NA
NLGN1
sanders_11_ASD_discovery_controls-11536.s1
Maternal
Simplex (quad)
NA
NLGN1
sanders_11_ASD_discovery_controls-11537.s1
Paternal
Simplex (quad)
NA
NLGN1
sanders_11_ASD_discovery_controls-11552.s1
Maternal
Simplex (quad)
NA
NAALADL2
sanders_11_ASD_discovery_controls-11563.s1
Maternal
Simplex (quad)
NA
NAALADL2
sanders_11_ASD_discovery_controls-11580.s1
Maternal
Simplex (quad)
NA
NAALADL2
sanders_11_ASD_discovery_controls-11592.s1
Maternal
Simplex (quad)
NA
NLGN1
sanders_11_ASD_discovery_controls-11592.s1
Maternal
Simplex (quad)
NA
MIR4789,NAALADL2
sanders_11_ASD_discovery_controls-11615.s1
Maternal
Simplex (quad)
NA
NAALADL2
sanders_11_ASD_discovery_controls-11630.s1
Both parents
Simplex (quad)
NA
NAALADL2
sanders_11_ASD_discovery_controls-11665.s1
Both parents
Simplex (quad)
NA
NLGN1
sanders_11_ASD_discovery_controls-11797.s1
Both parents
Simplex (quad)
NA
NAALADL2
sanders_11_ASD_discovery_controls-11812.s1
Paternal
Simplex (quad)
NA
NAALADL2
sanders_11_ASD_discovery_controls-11831.s1
Maternal
Simplex (quad)
NA
NAALADL2
sanders_11_ASD_discovery_controls-11834.s1
Maternal
Simplex (quad)
NA
NLGN1
sanders_11_ASD_discovery_controls-11857.s1
Paternal
Simplex (quad)
NA
NLGN1
sanders_11_ASD_discovery_controls-11879.s1
Both parents
Simplex (quad)
NA
NAALADL2
sanders_11_ASD_discovery_controls-11909.s1
Both parents
Simplex (quad)
NA
NAALADL2
sanders_11_ASD_discovery_controls-11909.s1
Maternal
Simplex (quad)
NA
NLGN1
sanders_11_ASD_discovery_controls-11916.s1
Paternal
Simplex (quad)
NA
NLGN1
sanders_11_ASD_discovery_controls-11924.s1
Maternal
Simplex (quad)
NA
NLGN1
sanders_11_ASD_discovery_controls-11946.s1
Paternal
Simplex (quad)
NA
NLGN1
sanders_11_ASD_discovery_controls-11954.s1
Maternal
Simplex (quad)
NA
NAALADL2
sanders_11_ASD_discovery_controls-11962.s1
Maternal
Simplex (quad)
NA
NAALADL2
sanders_11_ASD_discovery_controls-12007.s1
Paternal
Simplex (quad)
NA
NAALADL2
sanders_11_ASD_discovery_controls-12020.s1
Paternal
Simplex (quad)
NA
NLGN1
sanders_11_ASD_discovery_controls-12073.s1
Paternal
Simplex (quad)
NA
NAALADL2
sanders_11_ASD_discovery_controls-12083.s1
Maternal
Simplex (quad)
NA
NAALADL2
sanders_11_ASD_discovery_controls-12101.s1
Paternal
Simplex (quad)
NA
NAALADL2
sanders_11_ASD_discovery_controls-12157.s1
Maternal
Simplex (quad)
NA
NLGN1
sanders_11_ASD_discovery_controls-12173.s1
Paternal
Simplex (quad)
NA
NLGN1
sanders_11_ASD_discovery_controls-12175.s1
Maternal
Simplex (quad)
NA
NAALADL2
sanders_11_ASD_discovery_controls-12185.s1
Maternal
Simplex (quad)
NA
NLGN1
sanders_11_ASD_discovery_controls-12206.s1
Paternal
Simplex (quad)
NA
NAALADL2
sanders_11_ASD_discovery_controls-12211.s1
Both parents
Simplex (quad)
NA
NAALADL2
sanders_11_ASD_discovery_controls-12220.s1
Paternal
Simplex (quad)
NA
NAALADL2
sanders_11_ASD_discovery_controls-12261.s1
Paternal
Simplex (quad)
NA
NAALADL2
sanders_11_ASD_discovery_controls-12300.s1
Maternal
Simplex (quad)
NA
NAALADL2
sanders_11_ASD_discovery_controls-12323.s1
Paternal
Simplex (quad)
NA
NAALADL2
sanders_11_ASD_discovery_controls-12323.s1
Paternal
Simplex (quad)
NA
NLGN1
sanders_11_ASD_discovery_controls-12361.s1
Paternal
Simplex (quad)
NA
NAALADL2
sanders_11_ASD_discovery_controls-12373.s1
Maternal
Simplex (quad)
NA
NLGN1
sanders_11_ASD_discovery_controls-12377.s1
Paternal
Simplex (quad)
NA
NAALADL2
sanders_11_ASD_discovery_controls-12403.s1
Paternal
Simplex (quad)
NA
NAALADL2
sanders_11_ASD_discovery_controls-12407.s1
Maternal
Simplex (quad)
NA
NAALADL2
sanders_11_ASD_discovery_controls-12460.s1
Maternal
Simplex (quad)
NA
NLGN1
sanders_11_ASD_discovery_controls-12478.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12481.s1
Both parents
Simplex (quad)
NA
NAALADL2
sanders_11_ASD_discovery_controls-12492.s1
Maternal
Simplex (quad)
NA
NLGN1
sanders_11_ASD_discovery_controls-12536.s1
Maternal
Simplex (quad)
NA
NAALADL2
sanders_11_ASD_discovery_controls-12540.s1
Maternal
Simplex (quad)
NA
NAALADL2
sanders_11_ASD_discovery_controls-12572.s1
Maternal
Simplex (quad)
NA
NAALADL2
sanders_11_ASD_discovery_controls-12597.s1
Both parents
Simplex (quad)
NA
NAALADL2
sanders_11_ASD_discovery_controls-12602.s1
Paternal
Simplex (quad)
NA
NAALADL2
sanders_11_ASD_discovery_controls-12618.s1
Both parents
Simplex (quad)
NA
NLGN1
sanders_11_ASD_discovery_controls-12623.s1
Paternal
Simplex (quad)
NA
NAALADL2
sanders_11_ASD_discovery_controls-12624.s1
Paternal
Simplex (quad)
NA
NAALADL2
sanders_11_ASD_discovery_controls-12650.s1
Both parents
Simplex (quad)
NA
NAALADL2
sanders_11_ASD_discovery_controls-12674.s1
Maternal
Simplex (quad)
NA
NAALADL2
sanders_11_ASD_discovery_controls-12681.s1
Maternal
Simplex (quad)
NA
NAALADL2
sanders_11_ASD_discovery_controls-12682.s1
Maternal
Simplex (quad)
NA
NLGN1
sanders_11_ASD_discovery_controls-12715.s1
Paternal
Simplex (quad)
NA
NAALADL2
sanders_11_ASD_discovery_controls-12736.s1
Maternal
Simplex (quad)
NA
NAALADL2
sanders_11_ASD_discovery_controls-12749.s1
Maternal
Simplex (quad)
NA
NAALADL2
sanders_11_ASD_discovery_controls-12780.s1
Both parents
Simplex (quad)
NA
NAALADL2
sanders_11_ASD_discovery_controls-12796.s1
Paternal
Simplex (quad)
NA
NLGN1
sanders_11_ASD_discovery_controls-12799.s1
Maternal
Simplex (quad)
NA
NLGN1
sanders_11_ASD_discovery_controls-12871.s1
Maternal
Simplex (quad)
NA
NAALADL2
sanders_11_ASD_discovery_controls-12908.s1
Maternal
Simplex (quad)
NA
NAALADL2
sanders_11_ASD_discovery_controls-12925.s1
Maternal
Simplex (quad)
NA
NLGN1
sanders_11_ASD_discovery_controls-12956.s1
Maternal
Simplex (quad)
NA
NAALADL2
sanders_11_ASD_discovery_controls-13006.s1
Maternal
Simplex (quad)
NA
NAALADL2
sanders_11_ASD_discovery_controls-13016.s1
Both parents
Simplex (quad)
NA
NAALADL2
sanders_11_ASD_discovery_controls-13021.s1
Paternal
Simplex (quad)
NA
NAALADL2
sanders_11_ASD_discovery_controls-13036.s1
Maternal
Simplex (quad)
NA
NAALADL2
sanders_11_ASD_discovery_controls-13041.s1
Maternal
Simplex (quad)
NA
NAALADL2
sanders_11_ASD_discovery_controls-13041.s1
Paternal
Simplex (quad)
NA
NLGN1
sanders_11_ASD_discovery_controls-13048.s1
Maternal
Simplex (quad)
NA
NLGN1
sanders_11_ASD_discovery_controls-13053.s1
Maternal
Simplex (quad)
NA
NAALADL2
sanders_11_ASD_discovery_controls-13077.s1
Maternal
Simplex (quad)
NA
NAALADL2
sanders_11_ASD_discovery_controls-13077.s1
Maternal
Simplex (quad)
NA
NLGN1
sanders_11_ASD_discovery_controls-13083.s1
Both parents
Simplex (quad)
NA
NAALADL2
sanders_11_ASD_discovery_controls-13136.s1
Maternal
Simplex (quad)
NA
NAALADL2
sanders_11_ASD_discovery_controls-13136.s1
Maternal
Simplex (quad)
NA
NLGN1
sanders_11_ASD_discovery_controls-13166.s1
Both parents
Simplex (quad)
NA
NAALADL2
sanders_11_ASD_discovery_controls-13168.s1
Paternal
Simplex (quad)
NA
NLGN1
sanders_11_ASD_discovery_controls-13226.s1
Paternal
Simplex (quad)
NA
NLGN1
No Animal Model Data Available


