3p26.1CNV Type: Deletion-Duplication
Largest CNV size: 293151 bp
Statistics Box:
Number of Reports: 23
Number of Reports: 23
Summary Information
Summary statement in development
Additional Locus Information
References
Major Reports
Title
Author, Year
Report Class
CNV Type
Structural variation of chromosomes in autism spectrum disorder.
Duplication
Functional impact of global rare copy number variation in autism spectrum disorders.
Deletion
Novel copy number variants in children with autism and additional developmental anomalies.
Duplication
An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabili...
Duplication
Screening of 50 cypriot patients with autism spectrum disorders or autistic features using 400K custom array-CGH.
Deletion
Rare de novo deletion of metabotropic glutamate receptor 7 (GRM7) gene in a patient with autism spectrum disorder.
Deletion
Excess of rare, inherited truncating mutations in autism.
Deletion-Duplication
Minor Reports
Title
Author, Year
Report Class
CNV Type
Rare structural variation of synapse and neurotransmission genes in autism.
Deletion
Reduced transcript expression of genes affected by inherited and de novo CNVs in autism.
Duplication
Multiple recurrent de novo CNVs, including duplications of the 7q11.23 Williams syndrome region, are strongly associated with autism.
Deletion-Duplication
A discovery resource of rare copy number variations in individuals with autism spectrum disorder.
Deletion-Duplication
Refinement and discovery of new hotspots of copy-number variation associated with autism spectrum disorder.
Duplication
Transmission disequilibrium of small CNVs in simplex autism.
Deletion-Duplication
Performance of case-control rare copy number variation annotation in classification of autism.
Deletion-Duplication
The Role of mGluR Copy Number Variation in Genetic and Environmental Forms of Syndromic Autism Spectrum Disorder.
Deletion
Genome-wide analysis of copy number variations identifies PARK2 as a candidate gene for autism spectrum disorder.
Deletion
Paternally inherited cis-regulatory structural variants are associated with autism.
Deletion
Exome sequencing of 457 autism families recruited online provides evidence for autism risk genes
Deletion-Duplication
Cases
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
brandler_18_ASD_replication_cases
Affected individuals from MSSNG cohort (1395 cases from 1187 families) and the Simons Simplex 2 (SSC2) cohort (584 cases from simplex quad families)
1979
Cases diagnosed with ASD
N/A
N/A
586284
1
0
1
calderoni_20_ASD_discovery_cases
Females referred consecutively to the Autism Spectrum Disorders Unit of the Children Neuropsychiatry Hospital between 2015 and 2016
90
Clinical diagnosis of ASD based on DSM-5 criteria
Range, 21 mos.-17 yrs.
Female
50625
1
0
1
chehbani_22_ASD_discovery_cases
Patients recruited between January and April 2017 at the Child and Adolescent Psychiatry Clinic of the Department of Psychiatry, Fattouma Bourguiba University Hospital (Monastir, Tunisia); 91 patients were from simplex families, and 7 from multiplex families.
98
Clinical diagnosis of ASD based on DSM-IV and confirmed by ADI-R and ADOS.
Range, 3-18 yrs.
84.69% Male
248053
0
1
1
davis_09_ASD_discovery_cases
Autistic cases from Autism Genetic Research Exchange (AGRE)
36
ASD: diagnosis confirmed through ADI and in some cases ADOS-G. 17 cases with syndromic autism (autism and less than common craniofacial dysmorphology, limb or digit abnormality, or ocular abnormality), 19 cases selected at random with autism and no associated syndromic features
NA
NA
137694
0
1
1
engchuan_15_ASD_discovery_cases
Samples from the Autism Genome Project (AGP)
1892
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
N/A
85.78% Male
147487
3
2
5
feliciano_19_ASD_discovery_cases
ASD probands from 457 families (418 simplex, 39 multiplex) from the SPARK cohort
465
All cases diagnosed with ASD
Range of age at enrollment, 1.544.6 years
80.86% Male
542856
1
1
2
gai_11_ASD_discovery_cases
Discovery case samples derived from AGRE set 4 (most recent patient recruitment)
631
Idiopathic autism; cases designated as 'spectrum' and 'not quite autism' excluded, as were cases with known genetic syndromes or other non-idiopathic causes
108087
3
0
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
428000
0
1
1
han_22_ASD/DD/ID_discovery_cases
Probands with ASD or unexplained developmental delay/intellectual disability with or without other congenital anomalies from Shandong province in Northern China who were referred for genetic services from January 2014 to December 2018.
410
151 cases diagnosed with ASD (DSM-5 criteria, ADOS-2, confirmed by CARS score > 30) and 259 patients diagnosed with developmental delay/intellectual disability (DSM-5 criteria, confirmed by Gesell developmental scale DQ score < 75 and Wechsler Intelligence Scale for Children-Revised with IQ<70).
Mean age, 2 yrs. 11 mos.
68.78% Male
1170267
2
0
2
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
809340
0
3
3
kousoulidou_13_ASD_discovery_cases
Cypriot patients with ASD or autistic features
50
Children with preliminary diagnosis of ASD [reevaluated by clinical geneticist to rule out autistic-like syndromes and retested for ASD based on DSM-IV-TR and ICD-10 using Gilliam Autism Rating Scale-2 (GARS-2)]
Range, 3-18 yrs.
90% Male
101400
1
0
1
krumm_13_ASD_discovery_cases
Probands from quad families ascertained as part of the Simons Simplex Collection (SSC); CNVs detected using data from four previously published exome sequencing studies (O'Roak et al., 2011; Iossifov et al., 2012; O'Roak et al., 2012; Sanders et al., 2012)
411
Diagnosis of ASD. Social Responsiveness Scale (SRS) used as a quantitative measure of social deficits
N/A
81.265% Male
187285
1
1
2
krumm_15_ASD_discovery_cases
Probands from the Simons Simplex Collection
2377
Diagnosis of ASD
N/A
N/A
542855
3
2
5
liu_15b_ASD/DD_discovery_cases
First child of healthy unrelated parents presenting with ASD and hyperactivity, from a cohort of 100 children with ASD (Autistic Training Center, Qilu Children's Hospital of Shandong University, Ji'nan, China)
1
Diagnosis of ASD according to DSM-IV criteria. Development evaluated via Gesell Developmental Observation-Revised (GDO-R)
5 yrs.
Male
303000
1
0
1
marshall_08_ASD_discovery_cases
Cohort of ASD families (237 simplex, 189 mulitplex) recruited from the Hospital for Sick Children, McMaster Univ., Memorial Univ., and other sites
427
ASD
293151
0
1
1
nord_11_ASD_discovery_cases
Youth with ASD (as part of mother-father-child trios)
41
ASD
85.4% Male
22583
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
30608
1
0
1
prasad_12_ASD_discovery_cases
Unrelated ASD cases recruited from three Canadian sites (Hospital for Sick Children, McMaster University, and Memorial University of Newfoundland); the majority of cases had been previously genotyped with results published in Marshall et al., 2008 and Pinto et al., 2010. 20 cases from initial cohort of 696 were excluded from further analysis (due to CNVs > 5 Mb).
676
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS
NA
82.84% Male
235280
2
1
3
sanders_11_ASD_discovery_cases
Autistic probands from the Simons Simplex Collection (SSC). 872 probands in quartet families, 272 probands in trios.
1124
ASD diagnosis: 89.5% autism; 8.5% PDD-NOS, 2% Asperger syndrome. Mean full-scale IQ 85.1 1.5 (mean verbal IQ, 81.9 1.7; mean non-verbal IQ, 88.4 1.4)
Mean, 9.1 yrs.
86.1% Male
268481
59
3
62
wenger_16_ASD_discovery_cases
ASD cases with CNVs containing genes involved in the mGluR network from an initial cohort of 539 cases
62
ASD
N/A
N/A
91275
2
0
2
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
119956
2
0
2
yuan_23_ASD_discovery_cases
ASD probands from 353 pedigrees (338 simplex trios, 15 multiplex families) recruited from the Department of Child and Adolescent Psychiatry, Shanghai Mental Health Center (Shanghai, China).
369
Cases diagnosed with ASD using DSM-IV.
NA
NA
805557
0
1
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
1737929
1
1
2
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
736610
0
1
1
engchuan_15_ASD_discovery_controls
Platform-matched controls from three large studies: SAGE (Study of Addiction Genetics and Environment), Ontario Colorectal Cancer study, and HABC (Health Aging and Body Composition)
2342
Controls; subjects had no previous psychiatric history
N/A
46.67% Male
779867
5
5
10
gai_11_ASD_discovery_controls
Samples recruited from visits conducted within CHOP healthcare network
1775
Controls: patients screened for having no chronic illness/health issues as well as autism
Range, 3-18 yrs.
N/A
0
gai_11_ASD_replication_controls
Healthy individuals comprising the CHOP CNV resource
2026
Controls
N/A
0
kaminsky_11_DD/ID/ASD_discovery_controls
Controls from the International Standards for Cytogenomic Arrays (ISCA) consortium
10118
Controls
NA
NA
NA
NA
NA
NA
kanduri_15_ASD_discovery_controls
Unrelated Finnish samples from the cohort of Health 2000 survey from an initial sample of 288 individuals following quality control
269
Controls screened for DSM-IV mental disorders using the Composite International Diagnostic Interview and psychotic disorders using the research version of the Structured Clinical Interview for DSM-IV
N/A
N/A
21751
2
1
3
kousoulidou_13_ASD_discovery_controls
Control cohort consisting of 50 normal participants (36% male) older than 30 years of age with at least two biological children with no mental, neurological, or developmental disorder; and 80 normal individuals having children with syndromic or nonsyndromic intellectual disability, developmental delay, or rare neurological syndromes.
130
Controls
N/A
N/A
0
0
0
0
krumm_13_ASD_discovery_controls
Unaffected siblings of ASD probands from quad families ascertained as part of the Simons Simplex Collection (SSC); CNVs detected using data from four previously published exome sequencing studies (O'Roak et al., 2011; Iossifov et al., 2012; O'Roak et al., 2012; Sanders et al., 2012)
411
Control (unaffected siblings of ASD probands). Social Responsiveness Scale (SRS) used as a quantitative measure of social deficits
N/A
46.47% Male
187285
1
1
2
krumm_15_ASD_discovery_controls
Unaffected siblings from quad families from the Simons Simplex Collection
1786
Control
N/A
N/A
96754
1
1
2
marshall_08_ASD_discovery_controls_1
German PopGen project and entries from Database of Genomic Variants
500
Controls
0
0
0
0
marshall_08_ASD_discovery_controls_2
Non-disease controls from Ontario population
1152
Controls
0
0
0
0
nord_11_ASD_discovery_controls
Samples from 367 total control individuals (319 European American, 48 African American) used to test for differences in rare CNV prevalence compared with autism cases
123
Controls (no history of psychiatric symptoms by self-report)
30 yrs.
0
0
0
0
poultney_13_ASD_discovery_controls
Controls matched for European ancestry from NIMH and CEPH retained after filtering (original cohort size of 379 controls)
260
Control
N/A
47.49% Male (before filtering)
63713
1
0
1
prasad_12_ASD_discovery_controls
PDx controls [1000 DNA samples from reportedly healthy donors (50.2% male) from BioServe (Beltsville, MD)] and 4139 in-house controls previously reported in Krawcak et al. 2006, Stewart et al. 2009, and Bierut et al. 2010. CNVs identified in controls were used to define rare ASD-specific CNVs.
5139
Control
NA
NA (PDx controls 50.2% male)
235280
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.
322392
35
10
45
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
119956
0
0
0
Cases
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
brandler_18_ASD_replication_cases
N/A
WGS
Illumina HiSeq X10
ForestSV, Lumpy, Manta, Mobster, SV2
None
calderoni_20_ASD_discovery_cases
Italy
aCGH
Agilent 8x60K
qPCR
chehbani_22_ASD_discovery_cases
Tunisia
aCGH
Agilent SurePrint G3
ADM-2
Agilent Cytogenomic v.4.0.3.12.
None
davis_09_ASD_discovery_cases
NA
Array SNP
Affymetrix 250K Nsp, Affymetrix 250K Syt
HMM
CNAG v2.0
qPCR
engchuan_15_ASD_discovery_cases
Caucasian
Solid phase hybridization
Illumina 1M
None
feliciano_19_ASD_discovery_cases
N/A
WES
Illumina HumanCoreExome 550K
CoNIFER, XHMM
None
gai_11_ASD_discovery_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
None
han_22_ASD/DD/ID_discovery_cases
Han Chinese
Array SNP
Affymetrix SNP 6.0, Affymetrix CytoScan HD
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
kousoulidou_13_ASD_discovery_cases
Cyprus
aCGH
Agilent 400K custom array-CGH
Agilent Feature Extraction 9.1, Nexus Copy Number 5.1
qPCR
krumm_13_ASD_discovery_cases
N/A
WES
Whole exome sequencing platforms used in four recent publications (O'Roak et al., 2011; Sanders et al., 2012; O'Roak et al., 2012, and Iossifov et al., 2012)
DNACopy, CGHCall
CoNIFER
None
krumm_15_ASD_discovery_cases
N/A
WES
CoNIFER, XHMM
Solid phase hybridization (Illumina 1M, 1 M Duo, or Omni 2.5)
liu_15b_ASD/DD_discovery_cases
China
Array SNP
Affymetrix SNP 6.0
Affymetrix Command Console v.3.1
qRT-PCR
marshall_08_ASD_discovery_cases
90% European, 4.5% European-mixed, 4.5% Asian, 0.07% African
Array SNP, karotyping
Affymetrix 500K
dChip, CNAG, GEMCA
qPCR, qmPCR
nord_11_ASD_discovery_cases
29 European American, 3 Asian American, 2 Hispanic, 2 African American, 5 unknown ancestry
aCGH
NimbleGen HD2
Sliding-window algorithm, ~10 kb minumum size threshold
None
pinto_10_ASD_discovery_cases
European
Solid phase hybridization
Illumina Infinium 1M SNP microarray
QuantiSNP, iPattern
qPCR, long-range PCR (LR-PCR), MLPA, FISH, aCGH (Agilent 1M), array SNP (Affymetrix 500K)
prasad_12_ASD_discovery_cases
Canada
aCGH
Agilent 1M
ADM-2, DNAcopy (R Bioconductor)
DNA Analytics v4.0.85 (Agilent), DNAcopy
None
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
wenger_16_ASD_discovery_cases
N/A
Solid phase hybridization
Illumina HumanHap 550 or Illumina Human610-Quad v1.0
PennCNV
None
yin_16_ASD_discovery_cases
Han Chinese
Array SNP
Affymetrix 6.0
Affymetrix Genotyping Console v.4.1
None
yuan_23_ASD_discovery_cases
China
WES
Illumina HiSeq
NA
GATK v.4.2.0.0.
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
engchuan_15_ASD_discovery_controls
Caucasian
Solid phase hybridization
Illumina 1M
None
gai_11_ASD_discovery_controls
1005 European descent, 723 African descent, 47 Asian descent
Solid phase hybridization
Illumina Infinium II HumanHap550 BeadChip
BeadStudio 3.0
None
gai_11_ASD_replication_controls
Solid phase hybridization
Illumina Infinium II HumanHap550 BeadChip
BeadStudio 3.0
None
kaminsky_11_DD/ID/ASD_discovery_controls
NA
aCGH
Agilent 44K, Agilent 105K
Feature Extraction, DNA Analytics
kanduri_15_ASD_discovery_controls
Finnish
Solid phase hybridization
Illumina Infinium HD Human610-Quad BeadChip
QuantiSNP, PennCNV
Illumina BeadStudio
None
kousoulidou_13_ASD_discovery_controls
Cyprus
aCGH
Agilent 400K custom array-CGH
Agilent Feature Extraction 9.1, Nexus Copy Number 5.1
krumm_13_ASD_discovery_controls
N/A
WES
Whole exome sequencing platforms used in four recent publications (O'Roak et al., 2011; Sanders et al., 2012; O'Roak et al., 2012, and Iossifov et al., 2012)
DNACopy, CGHCall
CoNIFER
Solid phase hybridization (Illumina 1M), aCGH (Agilent SurePrint G3 4x180K), or confirmed by manual inspection
krumm_15_ASD_discovery_controls
N/A
WES
CoNIFER, XHMM
Solid phase hybridization (Illumina 1M, 1 M Duo, or Omni 2.5)
marshall_08_ASD_discovery_controls_1
European
Array SNP, karotyping
Affymetrix 500K
dChip, CNAG, GEMCA
marshall_08_ASD_discovery_controls_2
European
Array SNP, karotyping
Affymetrix 500K
dChip, CNAG, GEMCA
nord_11_ASD_discovery_controls
aCGH
NimbleGen HD2
Sliding-window algorithm, ~10 kb minumum size threshold
None
poultney_13_ASD_discovery_controls
European
WES
Agilent SureSelect Human All Exon v.2
XHMM
None
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
brandler_18_ASD_replication_cases-caseSSC02077
N/A
M
ASD
Case from SSC_phase2 cohort
4116828
4703111
586284
GRCh38
Deletion
No
calderoni_20_ASD_discovery_cases-caseP14
14 yrs.
F
ASD
ADOS module 3 evaluation: Social Affect score 5, Restricted and Repetitive Behaviors score 5, Calibrated Severity Score 4. Language and communication evaluation: verbal.
IQ > 70
7311439
7362063
50625
GRCh38
Deletion
Yes
chehbani_22_ASD_discovery_cases-case26
NA
M
ASD and intellectual disability
Case diagnosed with ASD based on DSM-IV criteria and confirmed by ADI-R and ADOS-2.
Intellectual disability.
4637561
4885613
248053
GRCh38
Duplication
No
davis_09_ASD_discovery_cases-AU005303
NA
NA
Syndromic ASD
Diagnosis: autism. Syndromic autism features: alopecia, areata. Family history: father with symptoms of OCD and ADHD
5898845
6036539
137694
Unknown
Duplication
Yes
engchuan_15_ASD_discovery_cases-case14012_220
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
7963141
8110628
147488
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case14057_990
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
8338031
8387643
49613
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case3309_3
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
7162599
7288830
126232
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case5003_4
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
6164148
6194755
30608
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case6161_3
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
5635620
5700015
64396
GRCh38
Deletion
No
feliciano_19_ASD_discovery_cases-caseSP0002235
N/A
M
ASD
Family history: both parents are negative for ASD and have no reported mental health diagnoses.
4303371
4846226
542856
GRCh38
Duplication
No
feliciano_19_ASD_discovery_cases-caseSP0013116
N/A
M
ASD
Family history: both parents are negative for ASD and have no reported mental health diagnoses.
7298684
7461723
163040
GRCh38
Deletion
No
gai_11_ASD_discovery_cases-AU1251302
Autism
7053179
7144453
91275
Unknown
Deletion
No
gai_11_ASD_discovery_cases-AU1655301
Autism
7065422
7172715
107294
Unknown
Deletion
No
gai_11_ASD_discovery_cases-AU1655302
Autism
7064629
7172715
108087
Unknown
Deletion
No
girirajan_13a_ASD_discovery_cases-13134.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
6443313
6863313
420001
GRCh38
Duplication
No
han_22_ASD/DD/ID_discovery_cases-caseY12
4 yrs.
M
ASD
Hyperactivity
7179402
7483318
303917
GRCh38
Deletion
No
han_22_ASD/DD/ID_discovery_cases-caseY95
5 yrs. 2 mos.
M
ASD
5733543
6903809
1170267
GRCh38
Deletion
No
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000168
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
6476154
7285494
809341
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004763
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
7285435
7579379
293945
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005381
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
7501915
7755807
253893
GRCh38
Duplication
Yes
kousoulidou_13_ASD_discovery_cases-patient8
N/A
M
ASD
High-functioning ASD. Normal speech, socially isolated from peers, exhibits stereotyped hand movements, reduced facial expressivity, emotional withdrawal, echolalia, psychomotor hyperactivity, and narrow interests. Family history: mother suffers from depression after being disabled due to an accident.
6965143
7086836
121694
GRCh38
Deletion
Yes
krumm_13_ASD_discovery_cases-case11824.p1
N/A
M
ASD
ASD proband from SSC quad family 11824. SRS score of 79.
Full-scale IQ (FSIQ) score of 81.
8537184
8630929
93746
GRCh38
Duplication
No (not tested)
krumm_13_ASD_discovery_cases-case12588.p1
N/A
M
ASD
ASD proband from SSC quad family 12588. SRS score of 85.
Full-scale IQ (FSIQ) score of 106.
7553121
7740406
187286
GRCh38
Deletion
No (not tested)
krumm_15_ASD_discovery_cases-case11046.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
4303370
4846225
542856
GRCh38
Deletion
Yes
krumm_15_ASD_discovery_cases-case11393.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
4303370
4376389
73020
GRCh38
Deletion
Yes
krumm_15_ASD_discovery_cases-case11824.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
8537184
8633938
96755
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_cases-case12588.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
7553121
7740406
187286
GRCh38
Deletion
Yes
krumm_15_ASD_discovery_cases-case13391.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
8625541
8633938
8398
GRCh38
Duplication
Yes
liu_15b_ASD/DD_discovery_cases-case1
5 yrs.
M
ASD
Diagnosis of ASD according to DSM-IV criteria. Birth/neonatal history: born by normal vaginal delivery at term, birth weight of 3550 g. Developmental milestones: first words at age of 2 years, first phrase at age of 3.5 years; unable to speak sentences until age of 4 years; started walking at 16 months. Language and communication evaluation: appeared to neither answer questions nor take initiative communication with others, often repeated imitative languages; presented to avoid eye contact with people but not afraid of strangers or unfamiliar environments. Motor and musculoskeletal evaluation: uncontrollable hyperactivity with uncoordinated movement. Behavioral/psychiatric evaluation: stereotyped actions; uncontrollable hyperactivity with uncoordinated movement. EEG: normal. Hearing: Auditory Steady State Response (ASSR) normal. Dysmorphic features: none. Family history: first child of healthy unrelated parents.
Developmental delay. Developmental evaluation using Gesell Developmental Observation-Revised (GDO-R) demonstrated language/cognition, adaption, motor skills, and personal-social interaction were significantly delayed; developmental quotient (DQ) from 30-53 and developmental age (DA) from 12.9 months for language/cognition to 23 months for motor skills (compared to chronological age of 43.6 months)
7179403
7482865
303463
GRCh38
Deletion
Yes
marshall_08_ASD_discovery_cases-MM0210-004
NA
M
ASD
NA
NA
7940703
8233854
293152
GRCh38
Duplication
Yes
nord_11_ASD_discovery_cases-239-1
ASD
5869225
5891807
22583
Unknown
Duplication
No
pinto_10_ASD_discovery_cases-case5003_4
NA
M
ASD
NA
NA
6164148
6194755
30608
GRCh38
Deletion
Yes
prasad_12_ASD_discovery_cases-case117525L
NA
F
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
6155051
6179808
24758
Unknown
Deletion
No
prasad_12_ASD_discovery_cases-case47376
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
7957409
8192688
235280
Unknown
Duplication
No
prasad_12_ASD_discovery_cases-case78063
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
7047702
7146137
98436
Unknown
Deletion
No
sanders_11_ASD_discovery_cases-11030.p1
8.3
M
ASD
NA
Full-scale IQ, 104; non-verbal IQ, 103; verbal IQ, 98
6610242
6612373
2132
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11080.p1
5.1
F
ASD
NA
Full-scale IQ, 51; non-verbal IQ, 50; verbal IQ 66
6610242
6613274
3033
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11087.p1
6.1
M
Autism
NA
Full-scale IQ, 88; non-verbal IQ, 86; verbal IQ 99
6610242
6613274
3033
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11129.p1
4.7
F
Autism
NA
Full-scale IQ, 81; non-verbal IQ, 79; verbal IQ 91
6177406
6199059
21654
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11134.p1
13.6
M
Autism
NA
Full-scale IQ, 117; non-verbal IQ, 115; verbal IQ 116
6610242
6613274
3033
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11164.p1
7.3
M
Autism
NA
Full-scale IQ, 99; non-verbal IQ, 107; verbal IQ, 89
6604339
6612373
8035
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11206.p1
6.1
M
Autism
NA
Full-scale IQ, 36; non-verbal IQ, 40; verbal IQ, 32
6610242
6612373
2132
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11223.p1
12.1
M
Autism
NA
Full-scale IQ, 104; non-verbal IQ, 106; verbal IQ 102
6610242
6612373
2132
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
6610242
6612373
2132
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11256.p1
11.3
M
Autism
NA
Full-scale IQ, 102; non-verbal IQ, 127; verbal IQ, 98
6610242
6612373
2132
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11275.p1
14.5
M
Autism
NA
Full-scale IQ, 109; non-verbal IQ, 117; verbal IQ, 90
6610242
6613274
3033
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11283.p1
12
M
Autism
NA
Full-scale IQ, 117; non-verbal IQ, 132; verbal IQ 84
6610242
6613274
3033
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11303.p1
5.8
M
Autism
NA
Full-scale IQ, 108; non-verbal IQ, 110; verbal IQ, 102
6877392
6884128
6737
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11327.p1
11.3
M
ASD
NA
Full-scale IQ, 84; non-verbal IQ, 86; verbal IQ, 83
6610242
6612373
2132
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11394.p1
5.3
M
Autism
NA
Full-scale IQ, 76; non-verbal IQ, 74; verbal IQ 87
6610242
6613274
3033
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
6610242
6612373
2132
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11458.p1
16.4
M
Autism
NA
Full-scale IQ, 117; non-verbal IQ, 106; verbal IQ, 126
6610242
6612373
2132
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11473.p1
11.5
M
Autism
NA
Full-scale IQ, 108; non-verbal IQ, 109; verbal IQ, 105
6610242
6612373
2132
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11483.p1
9.9
M
Autism
NA
Full-scale IQ, 83; non-verbal IQ, 80; verbal IQ, 89
6610242
6613274
3033
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11497.p1
6.5
M
Autism
NA
Full-scale IQ, 105; non-verbal IQ, 102; verbal IQ, 109
6610242
6612373
2132
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11506.p1
7
F
Autism
NA
Full-scale IQ, 86; non-verbal IQ, 92; verbal IQ, 82
6610242
6613274
3033
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11524.p1
15.3
M
Autism
NA
Full-scale IQ, 113; non-verbal IQ, 116; verbal IQ, 109
6610242
6612373
2132
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11536.p1
5.8
M
ASD
NA
Full-scale IQ, 98; non-verbal IQ, 101; verbal IQ, 95
6610242
6612373
2132
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11563.p1
6.8
M
Autism
NA
Full-scale IQ, 104; non-verbal IQ, 101; verbal IQ, 110
6610242
6612373
2132
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11578.p1
5.1
M
ASD
NA
Full-scale IQ, 120; non-verbal IQ, 120; verbal IQ, 115
6610242
6612373
2132
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11644.p1
17
M
Autism
NA
Full-scale IQ, 113; non-verbal IQ, 106; verbal IQ, 112
6610242
6612373
2132
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11704.p1
9.3
M
Autism
NA
Full-scale IQ, 62; non-verbal IQ, 82; verbal IQ, 33
6610242
6612373
2132
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11724.p1
10.9
M
Autism
NA
Full-scale IQ, 59; non-verbal IQ, 56; verbal IQ, 67
6278464
6287092
8629
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11800.p1
13.3
M
Autism
NA
Full-scale IQ, 34; non-verbal IQ, 34; verbal IQ, 35
7816361
7986139
169779
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11846.p1
15.8
M
Autism
NA
Full-scale IQ, 108; non-verbal IQ, 106; verbal IQ, 110
6610242
6613274
3033
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11869.p1
10.1
M
Autism
NA
Full-scale IQ, 98; non-verbal IQ, 104; verbal IQ, 86
6610242
6613274
3033
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11893.p1
8.3
F
Autism
NA
Full-scale IQ, 42; non-verbal IQ, 49; verbal IQ, 30
6610242
6613274
3033
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11969.p1
14.3
M
Autism
NA
Full-scale IQ, 104; non-verbal IQ, 102; verbal IQ, 108
6610242
6613274
3033
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
6610242
6612373
2132
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
6278464
6287092
8629
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12046.p1
12.6
M
Autism
NA
Full-scale IQ, 87; non-verbal IQ, 88; verbal IQ, 87
7863380
7870958
7579
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12198.p1
8.1
M
Autism
NA
Full-scale IQ, 117; non-verbal IQ, 119; verbal IQ, 108
6610242
6612373
2132
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
6177406
6197577
20172
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12330.p1
4.5
M
Autism
NA
Full-scale IQ, 59; non-verbal IQ, 62; verbal IQ, 62
6610242
6612373
2132
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12334.p1
8.9
M
Autism
NA
Full-scale IQ, 84; non-verbal IQ, 92; verbal IQ, 75
6610242
6613274
3033
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12404.p1
5.1
M
Autism
NA
Full-scale IQ, 48; non-verbal IQ, 50; verbal IQ, 57
6610242
6612373
2132
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12435.p1
11.2
M
Autism
NA
Full-scale IQ, 47; non-verbal IQ, 51; verbal IQ, 40
6610242
6612373
2132
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12499.p1
6.9
M
Autism
NA
Full-scale IQ, 60; non-verbal IQ, 67; verbal IQ, 56
6610242
6612373
2132
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12573.p1
17
M
Autism
NA
Full-scale IQ, 72; non-verbal IQ, 70; verbal IQ, 80
6610242
6613274
3033
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12588.p1
9.4
M
Autism
NA
Full-scale IQ, 106; non-verbal IQ, 105; verbal IQ, 108
7474458
7742939
268482
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12638.p1
9.9
M
Autism
NA
Full-scale IQ, 73; non-verbal IQ, 81; verbal IQ, 63
6177406
6197577
20172
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12651.p1
10.8
M
Autism
NA
Full-scale IQ, 24; non-verbal IQ, 34; verbal IQ, 14
6610242
6613274
3033
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12661.p1
8.4
F
Autism
NA
Full-scale IQ, 48; non-verbal IQ, 59; verbal IQ, 33
6038216
6064564
26349
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12682.p1
9.7
M
Autism
NA
Full-scale IQ, 92; non-verbal IQ, 93; verbal IQ, 92
6278464
6287092
8629
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12735.p1
10.7
M
ASD
NA
Full-scale IQ, 55; non-verbal IQ, 53; verbal IQ, 59
6610242
6612373
2132
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12792.p1
7.5
M
Autism
NA
Full-scale IQ, 107; non-verbal IQ, 106; verbal IQ, 107
6610242
6612373
2132
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
6610242
6613274
3033
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12809.p1
5.6
M
ASD
NA
Full-scale IQ, 86; non-verbal IQ, 88; verbal IQ, 88
6610242
6612373
2132
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12851.p1
4.7
M
Autism
NA
Full-scale IQ, 37; non-verbal IQ, 49; verbal IQ, 14
7326986
7330232
3247
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12864.p1
5.8
F
Autism
NA
Full-scale IQ, 67; non-verbal IQ, 65; verbal IQ, 81
6610242
6612373
2132
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12957.p1
9.5
F
Autism
NA
Full-scale IQ, 100; non-verbal IQ, 92; verbal IQ, 113
6610242
6613274
3033
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12997.p1
9.6
M
Autism
NA
Full-scale IQ, 97; non-verbal IQ, 94; verbal IQ, 103
6610242
6612373
2132
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-13014.p1
16.2
M
Autism
NA
Full-scale IQ, 104; non-verbal IQ, 104; verbal IQ, 103
6610242
6613274
3033
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-13033.p1
4.7
M
Autism
NA
Full-scale IQ, 55; non-verbal IQ, 67; verbal IQ, 43
6610242
6612373
2132
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-13042.p1
6.4
M
Autism
NA
Full-scale IQ, 79; non-verbal IQ, 79; verbal IQ, 85
6610242
6612373
2132
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-13053.p1
4.6
M
Autism
NA
Full-scale IQ, 43; non-verbal IQ, 49; verbal IQ, 25
6610242
6612373
2132
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-13072.p1
15.5
F
Autism
NA
Full-scale IQ, 94; non-verbal IQ, 94; verbal IQ, 97
6610242
6612373
2132
GRCh38
Deletion
No
wenger_16_ASD_discovery_cases-case36
N/A
N/A
ASD
Prior clinical diagnosis of genetic syndrome: n/a
7036492
7127766
91275
GRCh38
Deletion
No
wenger_16_ASD_discovery_cases-case54
N/A
N/A
ASD
Prior clinical diagnosis of genetic syndrome: n/a
4604232
4609817
5586
GRCh38
Deletion
No
yin_16_ASD_discovery_cases-case94
N/A
N/A
ASD
Cases diagnosed with autistic disorder according to DSM-IV and confirmed by using the Chinese version of ADI-R.
3993607
4000399
6793
GRCh38
Deletion
No
yin_16_ASD_discovery_cases-case95
N/A
N/A
ASD
Cases diagnosed with autistic disorder according to DSM-IV and confirmed by using the Chinese version of ADI-R.
7454533
7574488
119956
GRCh38
Deletion
No
yuan_23_ASD_discovery_cases-qma01694s000
NA
NA
ASD
Case diagnosed with ASD according to DSM-IV criteria.
4410614
5216170
805557
GRCh38
Duplication
No
zarrei_19_ASD/ADHD/OCD/SCZ_discovery_cases-case195538
N/A
M
Schizophrenia
Primary diagnosis: schizophrenia. Additional phenotype(s): no additional phenotypes reported
4376745
4654053
277309
GRCh38
Deletion
Yes
zarrei_19_ASD/ADHD/OCD/SCZ_discovery_cases-case2-1452-003
N/A
M
ASD
Primary diagnosis: ASD. Additional phenotype(s): no additional phenotypes reported
5445750
7183677
1737928
GRCh38
Duplication
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-control10462
N/A
F
Control
Control
7242771
7979380
736610
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-control110036023695_
N/A
N/A
Control
No previous psychiatric history
6159580
6939447
779868
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlB107311_1007871675
N/A
N/A
Control
No previous psychiatric history
5713045
5780312
67268
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlB565962_1007873333
N/A
N/A
Control
No previous psychiatric history
7847970
8004008
156039
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlB660739_1007854149
N/A
N/A
Control
No previous psychiatric history
6286394
6338602
52209
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlHABC_900216_900216
N/A
N/A
Control
No previous psychiatric history
5783191
5872572
89382
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlHABC_900308_900308
N/A
N/A
Control
No previous psychiatric history
6023042
6055745
32704
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlHABC_900623_900623
N/A
N/A
Control
No previous psychiatric history
7298477
7426010
127534
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlHABC_901012_901012
N/A
N/A
Control
No previous psychiatric history
6884128
6953739
69612
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlHABC_901032_901032
N/A
N/A
Control
No previous psychiatric history
6023042
6360349
337308
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlHABC_902664_902664
N/A
N/A
Control
No previous psychiatric history
6666470
6783047
116578
GRCh38
Duplication
No
kanduri_15_ASD_discovery_controls-control_split1710
N/A
N/A
Control
Control screened for DSM-IV mental disorders using the Composite International Diagnostic Interview and psychotic disorders using the research version of the Structured Clinical Interview for DSM-IV
6649648
6654060
4413
Unknown
Deletion
No
kanduri_15_ASD_discovery_controls-control_split1929
N/A
N/A
Control
Control screened for DSM-IV mental disorders using the Composite International Diagnostic Interview and psychotic disorders using the research version of the Structured Clinical Interview for DSM-IV
6322086
6328081
5996
Unknown
Duplication
No
kanduri_15_ASD_discovery_controls-control_split968
N/A
N/A
Control
Control screened for DSM-IV mental disorders using the Composite International Diagnostic Interview and psychotic disorders using the research version of the Structured Clinical Interview for DSM-IV
5410364
5432114
21751
Unknown
Deletion
No
krumm_13_ASD_discovery_controls-control11824.s1
N/A
M
Control
Unaffected sibling from SSC quad family 11824. SRS score of 68.
8537184
8633938
96755
GRCh38
Duplication
No (not tested)
krumm_13_ASD_discovery_controls-control12588.s1
N/A
M
Control
Unaffected sibling from SSC quad family 12588. SRS score of 47.
7553121
7740406
187286
GRCh38
Deletion
Yes
krumm_15_ASD_discovery_controls-control11393.s1
N/A
Male
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
4303370
4376389
73020
GRCh38
Deletion
Yes
krumm_15_ASD_discovery_controls-control11824.s1
N/A
Male
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
8537184
8633938
96755
GRCh38
Duplication
Yes
poultney_13_ASD_discovery_controls-control04C31732A
N/A
M
Control
NIMH Control (NIMH ID 92367)
8501937
8565649
63713
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11032.s1
3.7
M
Control (matched sibling)
NA
NA
8043768
8343248
299481
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11086.s1
9.3
M
Control (matched sibling)
NA
NA
6177406
6199084
21679
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11106.s1
7.2
M
Control (matched sibling)
NA
NA
5656723
5898793
242071
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11172.s1
13.6
F
Control (matched sibling)
NA
NA
6610242
6613274
3033
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11172.s1
13.6
F
Control (matched sibling)
NA
NA
6278464
6286394
7931
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11212.s1
19.2
F
Control (matched sibling)
NA
NA
6610242
6612373
2132
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11233.s1
4.7
M
Control (matched sibling)
NA
NA
6610242
6613274
3033
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11316.s1
13.3
F
Control (matched sibling)
NA
NA
6610242
6612373
2132
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11329.s1
6.9
M
Control (matched sibling)
NA
NA
6610242
6612373
2132
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11357.s1
4.7
F
Control (matched sibling)
NA
NA
6610242
6613274
3033
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11381.s1
7.4
M
Control (matched sibling)
NA
NA
7863380
7870958
7579
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11398.s1
13.8
M
Control (matched sibling)
NA
NA
6610242
6612373
2132
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11414.s1
14.8
F
Control (matched sibling)
NA
NA
6610242
6613274
3033
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11473.s1
9.3
F
Control (matched sibling)
NA
NA
6610242
6613274
3033
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11510.s1
6.8
F
Control (matched sibling)
NA
NA
6610242
6612373
2132
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11537.s1
10.3
F
Control (matched sibling)
NA
NA
6278464
6286394
7931
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11580.s1
11.8
M
Control (matched sibling)
NA
NA
6610242
6612373
2132
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11863.s1
8
F
Control (matched sibling)
NA
NA
6610242
6612373
2132
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11894.s1
4.2
M
Control (matched sibling)
NA
NA
6278464
6287092
8629
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11913.s1
5.9
F
Control (matched sibling)
NA
NA
6296150
6320982
24833
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11935.s1
6.2
M
Control (matched sibling)
NA
NA
6610242
6612373
2132
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11969.s1
17.5
M
Control (matched sibling)
NA
NA
6610242
6613274
3033
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12032.s1
7.2
F
Control (matched sibling)
NA
NA
6610242
6612373
2132
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12051.s1
7.5
M
Control (matched sibling)
NA
NA
6610242
6612373
2132
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12060.s1
10.6
F
Control (matched sibling)
NA
NA
6610242
6612373
2132
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12120.s1
7.8
F
Control (matched sibling)
NA
NA
7863380
7870958
7579
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12198.s1
11.3
M
Control (matched sibling)
NA
NA
6610242
6612373
2132
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12220.s1
16.1
M
Control (matched sibling)
NA
NA
6610242
6612373
2132
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12235.s1
6.7
M
Control (matched sibling)
NA
NA
6278464
6287092
8629
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-12303.s1
5.8
F
Control (matched sibling)
NA
NA
6610242
6612373
2132
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12303.s1
5.8
F
Control (matched sibling)
NA
NA
6180739
6503131
322393
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-12396.s1
11.2
F
Control (matched sibling)
NA
NA
6280399
6287092
6694
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-12409.s1
9
F
Control (matched sibling)
NA
NA
6610242
6612373
2132
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12409.s1
9
F
Control (matched sibling)
NA
NA
6180739
6503131
322393
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-12434.s1
8.8
F
Control (matched sibling)
NA
NA
6610242
6612373
2132
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12483.s1
12.7
M
Control (matched sibling)
NA
NA
6610242
6612373
2132
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12588.s1
5.4
M
Control (matched sibling)
NA
NA
7474458
7761018
286561
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12637.s1
5
M
Control (matched sibling)
NA
NA
6610242
6612373
2132
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12638.s1
17.8
F
Control (matched sibling)
NA
NA
6177406
6197577
20172
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12661.s1
11.2
F
Control (matched sibling)
NA
NA
6038216
6064518
26303
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12735.s1
9.1
M
Control (matched sibling)
NA
NA
6610242
6613274
3033
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12867.s1
18.8
M
Control (matched sibling)
NA
NA
6610242
6612373
2132
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12871.s1
17.4
F
Control (matched sibling)
NA
NA
7363357
7370043
6687
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-13021.s1
7.3
F
Control (matched sibling)
NA
NA
6610242
6612373
2132
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-13076.s1
19.5
F
Control (matched sibling)
NA
NA
6177406
6197577
20172
GRCh38
Deletion
No
Cases
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
brandler_18_ASD_replication_cases-caseSSC02077
No validation step reported
De novo
MRPS10P2,ITPR1-DT,SETMAR,ITPR1,SUMF1
calderoni_20_ASD_discovery_cases-caseP14
qPCR
Paternal
GRM7
chehbani_22_ASD_discovery_cases-case26
Unknown
Simplex
EGOT,ITPR1
davis_09_ASD_discovery_cases-AU005303
qPCR
Paternal
Multiplex
Segregated
0 genes (upstream of GRM7)
engchuan_15_ASD_discovery_cases-case14012_220
Unknown
LMCD1-AS1
engchuan_15_ASD_discovery_cases-case14057_990
Unknown
RNU4ATAC17P,LMCD1-AS1
engchuan_15_ASD_discovery_cases-case3309_3
Unknown
GRM7
engchuan_15_ASD_discovery_cases-case5003_4
Unknown
engchuan_15_ASD_discovery_cases-case6161_3
Unknown
feliciano_19_ASD_discovery_cases-caseSP0002235
Maternal
Simplex
MRPS10P2,ITPR1-DT,SETMAR,EGOT,ITPR1,SUMF1
null
feliciano_19_ASD_discovery_cases-caseSP0013116
Maternal
Simplex
GRM7
null
gai_11_ASD_discovery_cases-AU1251302
Inherited
GRM7 (intronic)
gai_11_ASD_discovery_cases-AU1655301
Inherited
GRM7
gai_11_ASD_discovery_cases-AU1655302
Inherited
GRM7
girirajan_13a_ASD_discovery_cases-13134.p1
Unknown
Simplex
Unknown
MRPS36P1,GRM7-AS3,GRM7
han_22_ASD/DD/ID_discovery_cases-caseY12
De novo
GRM7
han_22_ASD/DD/ID_discovery_cases-caseY95
Maternal
GRM7,MRPS36P1,GRM7-AS3,GRM7-AS2
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000168
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Maternal
Unknown
Unknown
MRPS36P1,GRM7-AS2,GRM7-AS3,GRM7
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004763
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Paternal
Unknown
Unknown
GRM7-AS1,GRM7
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005381
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Maternal
Unknown
Unknown
GRM7-AS1,GRM7
kousoulidou_13_ASD_discovery_cases-patient8
qPCR
Maternal
Unknown
Unknown
GRM7
krumm_13_ASD_discovery_cases-case11824.p1
Paternal
Simplex
Not segregated
LMCD1,SSUH2,LMCD1-AS1
krumm_13_ASD_discovery_cases-case12588.p1
Maternal
Simplex
Not segregated
GRM7-AS1,GRM7
krumm_15_ASD_discovery_cases-case11046.p1
Illumina 1M
De novo
Simplex
Segregated
MRPS10P2,ITPR1-DT,SETMAR,EGOT,ITPR1,SUMF1
krumm_15_ASD_discovery_cases-case11393.p1
Illumina 1MDuo
Paternal
Simplex
Not segregated (CNV in unaffected sibling)
SETMAR,SUMF1
krumm_15_ASD_discovery_cases-case11824.p1
Illumina 1MDuo
Paternal
Simplex
Not segregated (CNV in unaffected sibling)
LMCD1,SSUH2,LMCD1-AS1
krumm_15_ASD_discovery_cases-case12588.p1
Illumina 1MDuo
Maternal
Simplex
Segregated
GRM7-AS1,GRM7
krumm_15_ASD_discovery_cases-case13391.p1
1M-Duov3
Maternal
Simplex
Segregated
SSUH2
liu_15b_ASD/DD_discovery_cases-case1
qRT-PCR
De novo
Simplex
Likely segregated
GRM7
marshall_08_ASD_discovery_cases-MM0210-004
qPCR, qmPCR
Unknown
NA
NA
LMCD1-AS1
nord_11_ASD_discovery_cases-239-1
Paternal
0 genes
pinto_10_ASD_discovery_cases-case5003_4
Agilent1M
maternal
NA
NA
prasad_12_ASD_discovery_cases-case117525L
Unknown
Simplex
Unknown
0 genes
prasad_12_ASD_discovery_cases-case47376
Unknown
Unknown
Unknown
0 genes
prasad_12_ASD_discovery_cases-case78063
Unknown
Unknown
Unknown
GRM7
sanders_11_ASD_discovery_cases-11030.p1
Maternal
Simplex (quad-proband matched)
Segregated
sanders_11_ASD_discovery_cases-11080.p1
Both parents
Simplex (trio)
NA
sanders_11_ASD_discovery_cases-11087.p1
Maternal
Simplex (trio)
NA
sanders_11_ASD_discovery_cases-11129.p1
Paternal
Simplex (trio)
NA
sanders_11_ASD_discovery_cases-11134.p1
Both parents
Simplex (trio)
NA
sanders_11_ASD_discovery_cases-11164.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11206.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11223.p1
Both parents
Simplex (trio)
NA
sanders_11_ASD_discovery_cases-11233.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11256.p1
Both parents
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11275.p1
Both parents
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11283.p1
Unknown
Simplex (quad-proband unmatched)
Unknown
sanders_11_ASD_discovery_cases-11303.p1
Maternal
Simplex (quad-proband matched)
Not segregated
GRM7
sanders_11_ASD_discovery_cases-11327.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11394.p1
Maternal
Simplex (trio)
NA
sanders_11_ASD_discovery_cases-11432.p1
Both parents
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11458.p1
Both parents
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11473.p1
Both parents
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11483.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11497.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11506.p1
Paternal
Simplex (trio)
NA
sanders_11_ASD_discovery_cases-11524.p1
Unknown
Simplex (quad-proband matched)
Segregated
sanders_11_ASD_discovery_cases-11536.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11563.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11578.p1
Both parents
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11644.p1
Both parents
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11704.p1
Maternal
Simplex (trio)
NA
sanders_11_ASD_discovery_cases-11724.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11800.p1
Paternal
Simplex (quad-proband unmatched)
Unknown
LMCD1-AS1
sanders_11_ASD_discovery_cases-11846.p1
Both parents
Simplex (trio)
NA
sanders_11_ASD_discovery_cases-11869.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11893.p1
Unknown
Simplex (quad-proband unmatched)
Unknown
sanders_11_ASD_discovery_cases-11969.p1
Both parents
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12010.p1
Maternal
Simplex (quad-proband unmatched)
Unknown
sanders_11_ASD_discovery_cases-12044.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12046.p1
Maternal
Simplex (trio)
NA
sanders_11_ASD_discovery_cases-12198.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12260.p1
Maternal
Simplex (trio)
NA
sanders_11_ASD_discovery_cases-12330.p1
Both parents
Simplex (trio)
NA
sanders_11_ASD_discovery_cases-12334.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12404.p1
Both parents
Simplex (trio)
NA
sanders_11_ASD_discovery_cases-12435.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12499.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12573.p1
Both parents
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12588.p1
Maternal
Simplex (quad-proband matched)
Not segregated
GRM7-AS1,GRM7
sanders_11_ASD_discovery_cases-12638.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12651.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12661.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12682.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12735.p1
Both parents
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12792.p1
Both parents
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12796.p1
Unknown
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12809.p1
Both parents
Simplex (trio)
NA
sanders_11_ASD_discovery_cases-12851.p1
Paternal
Simplex (quad-proband matched)
Not segregated
GRM7
sanders_11_ASD_discovery_cases-12864.p1
Both parents
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12957.p1
Both parents
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12997.p1
Both parents
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-13014.p1
Both parents
Simplex (trio)
NA
sanders_11_ASD_discovery_cases-13033.p1
Paternal
Simplex (trio)
NA
sanders_11_ASD_discovery_cases-13042.p1
Both parents
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-13053.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-13072.p1
Maternal
Simplex (quad-proband matched)
Not segregated
wenger_16_ASD_discovery_cases-case36
Unknown
GRM7
wenger_16_ASD_discovery_cases-case54
Unknown
ITPR1
yin_16_ASD_discovery_cases-case94
Unknown
Unknown
Unknown
SUMF1
yin_16_ASD_discovery_cases-case95
Unknown
Unknown
Unknown
GRM7-AS1,GRM7
yuan_23_ASD_discovery_cases-qma01694s000
De novo
ARL8B,SUMF1,MRPS10P2,UBTFL8,EGOT,ITPR1,RNF10P1,BHLHE40-AS1,ITPR1-DT,BHLHE40,EDEM1
zarrei_19_ASD/ADHD/OCD/SCZ_discovery_cases-case195538
RT-qPCR or WGS
Maternal
MRPS10P2,ITPR1-DT,ITPR1,SUMF1
null
zarrei_19_ASD/ADHD/OCD/SCZ_discovery_cases-case2-1452-003
RT-qPCR or WGS
Unknown
MRPS36P1,GRM7-AS2,GRM7-AS3,GRM7
null
Controls
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
bacchelli_20_ASD_discovery_controls-control10462
Unknown
GRM7-AS1,GRM7,LMCD1-AS1
engchuan_15_ASD_discovery_controls-control110036023695_
Unknown
MRPS36P1,GRM7-AS2,GRM7-AS3,GRM7
engchuan_15_ASD_discovery_controls-controlB107311_1007871675
Unknown
engchuan_15_ASD_discovery_controls-controlB565962_1007873333
Unknown
LMCD1-AS1
engchuan_15_ASD_discovery_controls-controlB660739_1007854149
Unknown
engchuan_15_ASD_discovery_controls-controlHABC_900216_900216
Unknown
engchuan_15_ASD_discovery_controls-controlHABC_900308_900308
Unknown
engchuan_15_ASD_discovery_controls-controlHABC_900623_900623
Unknown
GRM7
engchuan_15_ASD_discovery_controls-controlHABC_901012_901012
Unknown
GRM7-AS2,GRM7
engchuan_15_ASD_discovery_controls-controlHABC_901032_901032
Unknown
engchuan_15_ASD_discovery_controls-controlHABC_902664_902664
Unknown
MRPS36P1,GRM7-AS3,GRM7
kanduri_15_ASD_discovery_controls-control_split1710
Unknown
Intergenic CNV: nearest genes, MIR4790(dist=1357708),GRM7(dist=248742)
kanduri_15_ASD_discovery_controls-control_split1929
Unknown
Intergenic CNV: nearest genes, MIR4790(dist=1030146),GRM7(dist=574721)
kanduri_15_ASD_discovery_controls-control_split968
Unknown
Intergenic CNV: nearest genes, MIR4790(dist=118424),GRM7(dist=1470688)
krumm_13_ASD_discovery_controls-control11824.s1
Paternal
Simplex
LMCD1,SSUH2,LMCD1-AS1
krumm_13_ASD_discovery_controls-control12588.s1
Solid phase hybridization (Illumina 1M) and aCGH (Agilent SurePrint G3 4x180K)
Maternal
Simplex
GRM7-AS1,GRM7
krumm_15_ASD_discovery_controls-control11393.s1
Illumina 1MDuo
Paternal
SETMAR,SUMF1
krumm_15_ASD_discovery_controls-control11824.s1
Illumina 1MDuo
Paternal
LMCD1,SSUH2,LMCD1-AS1
poultney_13_ASD_discovery_controls-control04C31732A
Unknown
LMCD1,LMCD1-AS1
sanders_11_ASD_discovery_controls-11032.s1
Paternal
Simplex (quad)
NA
LMCD1-AS1
sanders_11_ASD_discovery_controls-11086.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11106.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11172.s1
Both parents
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11172.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11212.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11233.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11316.s1
Both parents
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11329.s1
Both parents
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11357.s1
Both parents
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11381.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11398.s1
Both parents
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11414.s1
Both parents
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11473.s1
Both parents
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11510.s1
Both parents
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11537.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11580.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11863.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11894.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11913.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11935.s1
Both parents
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11969.s1
Both parents
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12032.s1
Both parents
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12051.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12060.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12120.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12198.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12220.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12235.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12303.s1
Both parents
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12303.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12396.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12409.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12409.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12434.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12483.s1
Both parents
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12588.s1
Maternal
Simplex (quad)
NA
GRM7-AS1,GRM7
sanders_11_ASD_discovery_controls-12637.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12638.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12661.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12735.s1
Both parents
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12867.s1
Both parents
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12871.s1
Maternal
Simplex (quad)
NA
GRM7
sanders_11_ASD_discovery_controls-13021.s1
Both parents
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-13076.s1
Maternal
Simplex (quad)
NA
No Animal Model Data Available