12q12CNV Type: Deletion-Duplication
Largest CNV size: 4538000 bp
Statistics Box:
Number of Reports: 20
Number of Reports: 20
Summary Information
Summary statement in development
Additional Locus Information
References
Major Reports
Title
Author, Year
Report Class
CNV Type
Mapping autism risk loci using genetic linkage and chromosomal rearrangements.
Deletion
Structural variation of chromosomes in autism spectrum disorder.
Deletion
Functional impact of global rare copy number variation in autism spectrum disorders.
Deletion
An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabili...
Deletion-Duplication
Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations.
Deletion
Convergence of genes and cellular pathways dysregulated in autism spectrum disorders.
Deletion
Paternally inherited cis-regulatory structural variants are associated with autism.
Deletion
Minor Reports
Title
Author, Year
Report Class
CNV Type
Population-based study of genetic variation in individuals with autism spectrum disorders from Croatia.
Duplication
Multiple recurrent de novo CNVs, including duplications of the 7q11.23 Williams syndrome region, are strongly associated with autism.
Deletion-Duplication
Rare de novo and transmitted copy-number variation in autistic spectrum disorders.
Deletion-Duplication
Use of array CGH to detect exonic copy number variants throughout the genome in autism families detects a novel deletion in TMLHE.
Deletion
Rare deletions at the neurexin 3 locus in autism spectrum disorder.
Deletion
A discovery resource of rare copy number variations in individuals with autism spectrum disorder.
Deletion-Duplication
Refinement and discovery of new hotspots of copy-number variation associated with autism spectrum disorder.
Duplication
Rare exonic deletions implicate the synaptic organizer Gephyrin (GPHN) in risk for autism, schizophrenia and seizures.
Deletion
Identification of small exonic CNV from whole-exome sequence data and application to autism spectrum disorder.
Duplication
Performance of case-control rare copy number variation annotation in classification of autism.
Deletion
Genome-wide analysis of copy number variations identifies PARK2 as a candidate gene for autism spectrum disorder.
Deletion
Copy-number variations are enriched for neurodevelopmental genes in children with developmental coordination disorder.
Duplication
Cases
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
brandler_18_ASD_discovery_cases
Affected individuals from the Relating Genes with Adolescent and Child Health (REACH) cohort (362 cases from 311 families; 54 multiplex, 243 simplex) and the Simons Simplex 1 (SSC1) cohort (518 cases from simplex quad families)
880
REACH cohort: 285 cases diagnosed with ASD, 43 cases diagnosed with PDD-NOS, 10 cases diagnosed with ADHD, and 24 cases presenting with speech delay, epilepsy, anxiety, or other related developmental disorders that were classified as cases for bioinformatics analyses; Simons Simplex Collection 1 (SSC1) cohort: all 518 cases were diagnosed with ASD
N/A
N/A
9117
3
0
3
celestino-soper_11_ASD_discovery_cases
ASD probands from Simons Simplex Collection (SSC) trios. 90 of the probands in this study were also used in the Sanders et al. 2011 CNV report.
99
ASD
87.88% Male
122
1
0
1
engchuan_15_ASD_discovery_cases
Samples from the Autism Genome Project (AGP)
1892
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
N/A
85.78% Male
556403
2
0
2
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
358000
0
1
1
kaminsky_11_DD/ID/ASD_discovery_cases
Cases from the International Standards for Cytogenomic Arrays (ISCA) consortium
15749
Unexplained developmental delay, intellectual disability, dysmorphic features, multiple congenital anomalies, autism spectrum disorders, or clinical features suggestive of a chromosomal syndrome
NA
NA
1588612
1
1
2
krumm_15_ASD_discovery_cases
Probands from the Simons Simplex Collection
2377
Diagnosis of ASD
N/A
N/A
311928
N/A
N/A
2
levy_11_ASD_discovery_cases
Autistic probands from 887 families from the Simons Simplex Collection (SSC)
858
ASD
87.06% Male
231944
1
1
2
lionel_13_ASD/SCZ/EP_discovery_cases
Patient cohort composed of 1158 Canadian ASD patients, 72 Austrian ASD patients, 450 Canadian schizophrenia patients, and a clinical dataset of 3704 individuals with primary diagnosis of ASD and/or seizure disorder referred for clinical microarray testing at the Mayo Clinic cytogenetics laboratory.
5384
ASD (n=1230), schizophrenia (n=450), and ASD and/or seizure disorder (n=3704). Canadian and Austrian ASD patients met criteria for ASD diagnosis based on ADI-R and/or ADOS.
NA
NA
421711
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
422842
1
0
1
mosca_16_DCD_discovery_cases
Participants recruited as part of a multidisciplinary study at the Alberta Children's Hospital (Calgary, Alberta, Canada)
82
All cases met diagnostic criteria for developmental coordination disorder (DCD) with or without co-occurring ADHD and/or reading disorder.
Range, 8-17 years (Mean, 10.06 2.92 yrs.)
N/A
45519
0
2
2
o'roak_12_ASD_discovery_cases
Autistic probands from the Simons Simplex Collection (SSC), from an initial cohort of 189 autism families
122
ASD/autism
NA
NA
87365
1
0
1
pinto_10_ASD_discovery_cases
Autism Genome Project (AGP) consortium patient cohort from families with at least two ASD individuals
996
ASD (ADI-R and ADOS): strict, broad, or spectrum ASD
15407
1
0
1
pinto_14_ASD_discovery_cases
ASD probands from simplex and multiplex families collected as part of stage 2 of the Autism Genome Project (AGP) after quality control (1,604 before QC)
1359
Cases classified according to ADOS and ADI-R
N/A
N/A
163166
1
0
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)
85661
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
387011
2
2
4
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
491215
24
15
39
szatmari_07_ASD_discovery_cases
ASD patients from 173 families with at least two affected individuals from AGP
196
Patients diagnosed with ASD based on ADI-R and ADOS
221000
2
0
2
vaags_11_ASD_replication_cases_2
Replication cohort consisting of patients referred to the Mayo Clinic
1796
Autism or pervasive developmental disorder (PDD)
NA
NA
407896
1
0
1
wang_10_ASD_discovery_cases
ASD patients recruited from Centers for Autism in Zagreb, Rijeka, and Split (Croatia)
103
ASD (according to DSM-IV criteria)
Mean, 21.5 10.3
78.6% Male
4538000
0
1
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
22878
1
0
1
Controls
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
brandler_18_ASD_discovery_controls
Unaffected individuals from the Relating Genes with Adolescent and Child Health (REACH) cohort (112 individuals from 311 families) and the Simons Simplex 1 (SSC1) cohort (518 controls from simplex quad families)
630
Control
N/A
N/A
6550
2
0
2
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
989599
2
0
2
kaminsky_11_DD/ID/ASD_discovery_controls
Controls from the International Standards for Cytogenomic Arrays (ISCA) consortium
10118
Controls
NA
NA
NA
NA
NA
NA
kanduri_15_ASD_discovery_controls
Unrelated Finnish samples from the cohort of Health 2000 survey from an initial sample of 288 individuals following quality control
269
Controls screened for DSM-IV mental disorders using the Composite International Diagnostic Interview and psychotic disorders using the research version of the Structured Clinical Interview for DSM-IV
N/A
N/A
354830
0
1
1
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
231944
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
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)
387011
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.
87365
17
7
24
wang_10_ASD_discovery_controls
Healthy blood donors with no history of mental illness, behavioral disorders, or substance abuse
203
Controls
Mean, 32.5 8.06
71.9% Male
4538000
0
0
0
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
22878
0
0
0
Cases
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
brandler_18_ASD_discovery_cases
N/A
WGS
Illumina HiSeq X10 or HiSeq 2500
ForestSV, Lumpy, Manta, Mobster, SV2
PCR, array SNP
celestino-soper_11_ASD_discovery_cases
aCGH
Agilent 1M
ADM-2
Agilent Feature Extraction v10.7.3.1, Agilent DNA Analytics v4.0.76
None
engchuan_15_ASD_discovery_cases
Caucasian
Solid phase hybridization
Illumina 1M
None
girirajan_13a_ASD_discovery_cases
NA
aCGH
Custom microarray with a high density of probes targeted to 1,367 regions with a susceptible genomic architecture
ADM-2
Agilent Genomic Workbench
None
kaminsky_11_DD/ID/ASD_discovery_cases
NA
aCGH
Agilent 44K, Agilent 105K
Feature Extraction, DNA Analytics
FISH, qPCR, MLPA, aCGH, standard G-banded chromosome analysis
krumm_15_ASD_discovery_cases
N/A
WES
CoNIFER, XHMM
Solid phase hybridization (Illumina 1M, 1 M Duo, or Omni 2.5)
levy_11_ASD_discovery_cases
aCGH
NimbleGen HD2
HMM
lionel_13_ASD/SCZ/EP_discovery_cases
NA
aCGH, array SNP
Agilent ISCA 44K, Agilent 180K, Affymetrix 6.0
Agilent DNA Analytics, Birdsuite, iPattern, Affymetrix Genotyping Console
None
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
mosca_16_DCD_discovery_cases
Canada
Solid phase hybridization
Illumina HumanOmni2.5-Quad BeadChip
iPattern, PennCNV, QuantiSNP, CNVPartition
None
o'roak_12_ASD_discovery_cases
NA
WES
NimbleGen EZ Exome V2.0, Illumina GAIIx or HiSeq2000
HMM
mrsFAST aligner
aCGH, Sanger sequencing
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)
pinto_14_ASD_discovery_cases
Predominantly European
Solid phase hybridization
Illumina 1M (v.1 and v.3)
qPCR, MLPA, long-range PCR
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
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
szatmari_07_ASD_discovery_cases
Array SNP
Affymetrix 10K (v2)
HMM
dChip
Karyotyping, qPCR, aCGH, array SNP, overlap with Mendelian genotype errors
vaags_11_ASD_replication_cases_2
NA
aCGH
Agilent 44K & 244K
None
wang_10_ASD_discovery_cases
Croatian
Solid phase hybridization
Illumina HumanHap550 BeadChip
PennCNV
BeadStudio
None
yin_16_ASD_discovery_cases
Han Chinese
Array SNP
Affymetrix 6.0
Affymetrix Genotyping Console v.4.1
None
Controls
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
brandler_18_ASD_discovery_controls
N/A
WGS
Illumina HiSeq X10 or HiSeq 2500
ForestSV, Lumpy, Manta, Mobster, SV2
PCR, array SNP
engchuan_15_ASD_discovery_controls
Caucasian
Solid phase hybridization
Illumina 1M
None
kaminsky_11_DD/ID/ASD_discovery_controls
NA
aCGH
Agilent 44K, Agilent 105K
Feature Extraction, DNA Analytics
kanduri_15_ASD_discovery_controls
Finnish
Solid phase hybridization
Illumina Infinium HD Human610-Quad BeadChip
QuantiSNP, PennCNV
Illumina BeadStudio
None
krumm_15_ASD_discovery_controls
N/A
WES
CoNIFER, XHMM
None
levy_11_ASD_discovery_controls
aCGH
NimbleGen HD2
HMM
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
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
wang_10_ASD_discovery_controls
Croatian
Solid phase hybridization
Illumina HumanHap550 BeadChip
PennCNV
BeadStudio
None
yin_16_ASD_discovery_controls
Han Chinese
Array SNP
Affymetrix 6.0
Affymetrix Genotyping Console v.4.1
None
Cases
Patient ID
Author, Year
Age
Gender
Primary Diagnosis
Clinical Profile
Cognitive Profile
CNV Start
CNV End
CNV Size
Genome Build
Type Method
Validation
brandler_18_ASD_discovery_cases-caseSSC02094
N/A
M
ASD
Case from SSC_phase1 cohort
45732475
45737779
5305
GRCh38
Deletion
No
brandler_18_ASD_discovery_cases-caseSSC02859
N/A
M
ASD
Case from SSC cohort
40449287
40458404
9118
GRCh38
Deletion
Yes
brandler_18_ASD_discovery_cases-caseSSC03394
N/A
M
ASD
Case from SSC_phase1 cohort
44521476
44528026
6551
GRCh38
Deletion
Yes
celestino-soper_11_ASD_discovery_cases-11399
NA
M
ASD
NA
NA
45730088
45730210
123
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case21035_1
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
39708891
40265294
556404
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case6177_3
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
41092646
41279051
186406
GRCh38
Deletion
No
girirajan_13a_ASD_discovery_cases-13945.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
43849930
44209950
360021
GRCh38
Duplication
No
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002686
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
39651727
41240339
1588613
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004341
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
39287010
39789020
502011
GRCh38
Deletion
Yes
krumm_15_ASD_discovery_cases-case11645.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
44521999
44523484
1486
GRCh38
Deletion
Yes
krumm_15_ASD_discovery_cases-case14552.p1
N/A
N/A
ASD
Proband from the Simons Simplex Collection (SSC). Family type: N/A
42160588
42472516
311929
GRCh38
N/A
Yes
levy_11_ASD_discovery_cases-11452.p1
NA
M
ASD
NA
NA
45199497
45288038
88542
GRCh38
Deletion
No
levy_11_ASD_discovery_cases-12370.p1
NA
M
ASD
NA
NA
38246299
38478242
231944
GRCh38
Duplication
No
lionel_13_ASD/SCZ/EP_discovery_cases-proband3
15 yrs.
M
ASD and ID
Diagnosis of ASD (pervasive developmental disorder/PDD) at age of 4 years by child psychologist on basis of behavioral assessments. Birth/neonatal history: uncomplicated pregnancy; natural delivery. Developmental milestones: crawling at 7 months, walking at 15 months; developmental delay noticed by parents at age two, two months after serious encephalitic illness that required hospitalization; speech and language delay (did not talk until approximately 4 years of age). Behavioral/psychiatric evaluation: continued behavioral issues including anxiety, OCD, tics, and impulsive, sometimes aggressive behaviors; frequently talks to himself, trouble concentrating and sitting still. Epilepsy/seizures: cyclical seizures began at time of encephalitic illness and recurred until age of 6 years; subsequently seizure-free without anti-convulsant treatment. Other features: clinical metabolic testing for molybdenum cofactor (MoCo) deficiency performed (negative results) after detection of de novo 14q23.3/GPHN deletion. Dysmorphic features: N/A. Family history: N/A.
Intellectual disability
38048745
38470455
421711
GRCh38
Deletion
No
marshall_08_ASD_discovery_cases-SK0152-003
NA
M
ASD
RL/EL moderate/sever delay, severe speech unintelligibility, moderate repetitive behavior, hypotonia
LOF 31
41904129
42326971
422843
GRCh38
Deletion
Yes
mosca_16_DCD_discovery_cases-case115103
N/A
M
DCD/RD
Ancestry: European. Family history: maternal diagnosis unaffected; paternal diagnosis unaffected.
41644369
41666196
21828
GRCh38
Duplication
No
mosca_16_DCD_discovery_cases-case118903
N/A
M
DCD (with or without ADHD and/or RD)
Ancestry: unknown. Family history: maternal diagnosis unknown; paternal diagnosis unknown.
42287706
42333224
45519
GRCh38
Duplication
No
o'roak_12_ASD_discovery_cases-case11452.p1
NA
M
ASD/Autism
Case also identified with de novo CUL3 nonsense mutation. No additional clinical info available.
High IQ. Non verbal IQ, 80
45199899
45287264
87366
GRCh38
Deletion
Yes
pinto_10_ASD_discovery_cases-case2234_1
NA
M
Autism
Language delay, no dysmorphic features, significant hypotonia but walked at 18 m, normal neurological exam, no epilepsy
NA
38587878
38603284
15407
Unknown
Deletion
Yes
pinto_14_ASD_discovery_cases2-case6177_3
N/A
M
ASD
Clinical profile: N/A.
Cognitive profile: N/A.
41114681
41277846
163166
GRCh38
Deletion
Yes
poultney_13_ASD_discovery_cases-case99HI1144B
N/A
M
ASD
ASD case from AGRE (AGRE ID AU020404; NDAR ID NDAR_INVPN168CVH)
45837496
45923156
85661
GRCh38
Duplication
No
prasad_12_ASD_discovery_cases-case138644L
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
38077881
38102916
25036
Unknown
Duplication
No
prasad_12_ASD_discovery_cases-case72816L
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
38077881
38102916
25036
Unknown
Duplication
No
prasad_12_ASD_discovery_cases-case85179L
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
40582171
40969181
387011
Unknown
Deletion
No
prasad_12_ASD_discovery_cases-case88794
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
43253836
43283237
29402
Unknown
Deletion
No
sanders_11_ASD_discovery_cases-11053.p1
5.1
M
Autism
NA
Full-scale IQ, 84; non-verbal IQ, 92; verbal IQ, 77
37940580
38003391
62812
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11073.p1
9.7
M
Autism
NA
Full-scale IQ, 100; non-verbal IQ, 100; verbal IQ, 101
39907918
39920244
12327
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11158.p1
10.7
M
Autism
NA
Full-scale IQ, 55; non-verbal IQ, 71; verbal IQ, 39
40424458
40427374
2917
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11160.p1
6.9
F
Autism
NA
Full-scale IQ, 101; non-verbal IQ, 119; verbal IQ, 99
40424458
40427374
2917
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
37928469
37933847
5379
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
37928469
37933847
5379
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11296.p1
13.6
M
Autism
NA
Full-scale IQ, 75; non-verbal IQ, 82; verbal IQ, 71
37928469
37933847
5379
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11330.p1
10.5
M
Autism
NA
Full-scale IQ, 85; non-verbal IQ, 94; verbal IQ, 80
40424458
40427374
2917
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11355.p1
8.8
M
ASD
NA
Full-scale IQ, 69; non-verbal IQ, 73; verbal IQ, 67
45627502
45651978
24477
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11378.p1
9.8
M
Autism
NA
Full-scale IQ, 77; non-verbal IQ, 91; verbal IQ, 48
41390335
41420703
30369
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11452.p1
8.5
M
Autism
NA
Full-scale IQ, 80; non-verbal IQ, 80; verbal IQ, 85
45199899
45293197
93299
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11485.p1
5.6
M
Autism
NA
Full-scale IQ, 78; non-verbal IQ, 75; verbal IQ, 63
40424458
40427374
2917
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11567.p1
9.4
F
Autism
NA
Full-scale IQ, 48; non-verbal IQ, 55; verbal IQ, 34
40424458
40427374
2917
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11567.p1
9.4
F
Autism
NA
Full-scale IQ, 48; non-verbal IQ, 55; verbal IQ, 34
40210155
40216081
5927
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11616.p1
10.3
M
Autism
NA
Full-scale IQ, 127; non-verbal IQ, 129; verbal IQ, 113
37928469
37933847
5379
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11710.p1
6.1
M
Autism
NA
Full-scale IQ, 74; non-verbal IQ, 79; verbal IQ, 73
40424458
40427374
2917
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11794.p1
8.3
M
Autism
NA
Full-scale IQ, 36; non-verbal IQ, 40; verbal IQ, 33
37888502
37899998
11497
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11990.p1
11.4
M
Autism
NA
Full-scale IQ, 79; non-verbal IQ, 81; verbal IQ, 78
42530501
42540905
10405
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
41390335
41420703
30369
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12020.p1
17.3
M
Autism
NA
Full-scale IQ, 116; non-verbal IQ, 115; verbal IQ, 114
37940580
38031180
90601
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12051.p1
6.3
M
Autism
NA
Full-scale IQ, 62; non-verbal IQ, 66; verbal IQ, 63
37953836
37997168
43333
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12158.p1
5.7
M
Autism
NA
Full-scale IQ, 86; non-verbal IQ, 81; verbal IQ, 100
41646786
41711607
64822
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12261.p1
16.3
M
Autism
NA
Full-scale IQ, 86; non-verbal IQ, 95; verbal IQ, 73
37953836
37992032
38197
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12275.p1
4.4
M
Autism
NA
Full-scale IQ, 111; non-verbal IQ, 111; verbal IQ, 107
37953836
37992032
38197
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12370.p1
8.2
M
Autism
NA
Full-scale IQ, 130; non-verbal IQ, 127; verbal IQ, 123
37987243
38478458
491216
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12396.p1
8.3
M
Autism
NA
Full-scale IQ, 99; non-verbal IQ, 98; verbal IQ, 101
38026578
38089219
62642
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12403.p1
11.9
M
Autism
NA
Full-scale IQ, 104; non-verbal IQ, 102; verbal IQ, 108
37992032
37997168
5137
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12472.p1
5.6
F
Autism
NA
Full-scale IQ, 106; non-verbal IQ, 101; verbal IQ, 112
37928469
37933847
5379
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12485.p1
6.1
M
Autism
NA
Full-scale IQ, 96; non-verbal IQ, 97; verbal IQ, 98
37992032
38003391
11360
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12497.p1
4.6
M
Autism
NA
Full-scale IQ, 55; non-verbal IQ, 63; verbal IQ, 49
40414870
40432399
17530
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
37992032
37997168
5137
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
37828889
37848227
19339
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12610.p1
5.4
M
ASD
NA
Full-scale IQ, 86; non-verbal IQ, 99; verbal IQ, 71
40424458
40427374
2917
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12665.p1
9.3
M
Autism
NA
Full-scale IQ, 77; non-verbal IQ, 80; verbal IQ, 77
40424458
40427374
2917
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12670.p1
10.5
M
ASD
NA
Full-scale IQ, 106; non-verbal IQ, 108; verbal IQ, 104
41162259
41177014
14756
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12784.p1
4.4
M
Autism
NA
Full-scale IQ, 99; non-verbal IQ, 106; verbal IQ, 87
41218022
41237303
19282
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12972.p1
10.8
M
Autism
NA
Full-scale IQ, 72; non-verbal IQ, 79; verbal IQ, 63
40424458
40427374
2917
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-13136.p1
6.5
M
Autism
NA
Full-scale IQ, 42; non-verbal IQ, 53; verbal IQ, 31
40424458
40427374
2917
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
37992032
38009989
17958
GRCh38
Deletion
No
szatmari_07_ASD_discovery_cases-NAAR033-A8-3271.005
NA
ASD
NA
NA
37825931
38046931
221001
GRCh38
Deletion
Yes
szatmari_07_ASD_discovery_cases-NAAR033-E7-3271.001
NA
ASD
NA
NA
37825931
38046931
221001
GRCh38
Deletion
Yes
vaags_11_ASD_replication_cases_2-probandF4-003
3 yrs. 6 mos.
M
Autism
Diagnosis of autism based on clinical diagnosis, C-TRF (Caregiver-Teacher Report Form), and DSM-Oriented Scales for Boys (>97th %ile). Aggression, anger, anxiety, temper tantrums, social avoidance, sucking and biting of hands and fingers, sleep-onset disorder, upper-body hypotonia, thumb-flexion difficulty, oppositional defiance, previous head banging, and prior speech delay
Leiter-R IQ: incomplete (test attempted but proband failed to complete)
38059808
38467703
407896
GRCh38
Deletion
No
wang_10_ASD_discovery_cases-AC0093
17
M
ASD
NA
NA
39155387
43904614
4749228
GRCh38
Duplication
No
yin_16_ASD_discovery_cases-case435
N/A
N/A
ASD
Cases diagnosed with autistic disorder according to DSM-IV and confirmed by using the Chinese version of ADI-R.
42087641
42110518
22878
GRCh38
Deletion
No
Controls
Patient ID
Author, Year
Age
Gender
Primary Diagnosis
Clinical Profile
Cognitive Profile
CNV Start
CNV End
CNV Size
Genome Build
Type Method
Validation
brandler_18_ASD_discovery_controls-controlSSC02109
N/A
M
Control
Control from SSC_phase1 cohort
45732475
45737779
5305
GRCh38
Deletion
No
brandler_18_ASD_discovery_controls-controlSSC03403
N/A
F
Control
Control from SSC_phase1 cohort
44521476
44528026
6551
GRCh38
Deletion
Yes
engchuan_15_ASD_discovery_controls-controlB378731_1007852637
N/A
N/A
Control
No previous psychiatric history
44551067
44904256
353190
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlB980299_0067942608
N/A
N/A
Control
No previous psychiatric history
38236104
39225703
989600
GRCh38
Deletion
No
kanduri_15_ASD_discovery_controls-control_split1307
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
39994674
40349503
354830
Unknown
Duplication
No
levy_11_ASD_discovery_controls-11452.s1
NA
M
Control
NA
NA
45199497
45288038
88542
GRCh38
Deletion
No
levy_11_ASD_discovery_controls-12370.s1
NA
F
Control
NA
NA
38246299
38478242
231944
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11088.s1
14.5
F
Control (matched sibling)
NA
NA
39549104
39604342
55239
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11142.s1
4.5
F
Control (matched sibling)
NA
NA
45048326
45065720
17395
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11160.s1
11.5
M
Control (matched sibling)
NA
NA
40424458
40427374
2917
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11355.s1
5.4
F
Control (matched sibling)
NA
NA
45622778
45651978
29201
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11452.s1
6.8
M
Control (matched sibling)
NA
NA
45199899
45287264
87366
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11567.s1
7.7
M
Control (matched sibling)
NA
NA
40424458
40427374
2917
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11567.s1
7.7
M
Control (matched sibling)
NA
NA
40210155
40217061
6907
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11569.s1
5.6
M
Control (matched sibling)
NA
NA
40424458
40427374
2917
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11571.s1
6.3
F
Control (matched sibling)
NA
NA
41663628
41678712
15085
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11616.s1
6.8
M
Control (matched sibling)
NA
NA
37928469
37933847
5379
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11788.s1
11.5
M
Control (matched sibling)
NA
NA
37992032
37997168
5137
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11818.s1
14.3
F
Control (matched sibling)
NA
NA
40424458
40427374
2917
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11919.s1
6.7
M
Control (matched sibling)
NA
NA
37928469
37933847
5379
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12261.s1
21.5
M
Control (matched sibling)
NA
NA
38434539
38457840
23302
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-12370.s1
6.3
F
Control (matched sibling)
NA
NA
37987243
38026603
39361
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-12396.s1
11.2
F
Control (matched sibling)
NA
NA
38031180
38089219
58040
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-12462.s1
20.8
F
Control (matched sibling)
NA
NA
40416359
40419931
3573
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12598.s1
12
F
Control (matched sibling)
NA
NA
41663628
41678712
15085
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12626.s1
16.3
F
Control (matched sibling)
NA
NA
37918985
37933847
14863
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12722.s1
6.8
M
Control (matched sibling)
NA
NA
37953836
37997168
43333
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-12892.s1
15.4
F
Control (matched sibling)
NA
NA
37992032
38009989
17958
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12956.s1
7.4
F
Control (matched sibling)
NA
NA
43546694
43562591
15898
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-12972.s1
7.2
F
Control (matched sibling)
NA
NA
40424458
40427374
2917
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-13166.s1
5.6
M
Control (matched sibling)
NA
NA
37992032
38009989
17958
GRCh38
Deletion
No
Cases
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
brandler_18_ASD_discovery_cases-caseSSC02094
Not available
Maternal
ARID2
brandler_18_ASD_discovery_cases-caseSSC02859
SNP VCF
De novo
MUC19
brandler_18_ASD_discovery_cases-caseSSC03394
PCR or SNP data validation
Maternal
NELL2
celestino-soper_11_ASD_discovery_cases-11399
Unknown
Simplex
NA
ARID2
engchuan_15_ASD_discovery_cases-case21035_1
Unknown
RPL30P13,LINC02555,LINC02471,LRRK2,C12orf40,SLC2A13
engchuan_15_ASD_discovery_cases-case6177_3
Unknown
PDZRN4
girirajan_13a_ASD_discovery_cases-13945.p1
Unknown
Simplex
Unknown
ZNF75BP,TMEM117
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002686
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
RPL30P13,LINC02555,RNU6-713P,LINC02471,LRRK2,MUC19,PDZRN4,C12orf40,SLC2A13,CNTN1
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004341
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Maternal
Unknown
Unknown
KIF21A,ABCD2,C12orf40,SLC2A13
krumm_15_ASD_discovery_cases-case11645.p1
Illumina 1MDuo
Maternal
Simplex
Segregated
NELL2
krumm_15_ASD_discovery_cases-case14552.p1
aCGH
De novo
Simplex
Likely segregated
MIR7851,RNU6-249P,ZCRB1,YAF2,PPHLN1,PRICKLE1
levy_11_ASD_discovery_cases-11452.p1
Maternal
Simplex
Not segregated
PLEKHA8P1,ANO6
levy_11_ASD_discovery_cases-12370.p1
Paternal
Simplex
Not segregated
ALG10B
lionel_13_ASD/SCZ/EP_discovery_cases-proband3
Unknown
Simplex
Unknown
AK6P2,CLUHP8,RNA5SP358,RNA5SP359,TUBB8P5,NF1P12,ALG10B
marshall_08_ASD_discovery_cases-SK0152-003
qPCR, qmPCR
De novo
Multiplex-CHR
NA
MIR7851,GXYLT1,ZCRB1,YAF2,PPHLN1
mosca_16_DCD_discovery_cases-case115103
Unknown
Simplex
Unknown
RNA5SP360
mosca_16_DCD_discovery_cases-case118903
Unknown
Unknown
Unknown
MIR7851,ZCRB1,PPHLN1
o'roak_12_ASD_discovery_cases-case11452.p1
aCGH, Sanger sequencing
Maternal
Simplex (quad)
Unknown
PLEKHA8P1,ANO6
pinto_10_ASD_discovery_cases-case2234_1
qPCR, Affy 6.0
maternal
NA
NA
SLC2A13 intronic
pinto_14_ASD_discovery_cases2-case6177_3
qPCR
Unknown (not paternal, mother bad DNA)
Simplex
(no siblings)
PDZRN4
poultney_13_ASD_discovery_cases-case99HI1144B
Unknown
Unknown (likely multiplex/AGRE)
Unknown
RN7SL246P,KNOP1P2,SCAF11,ARID2
prasad_12_ASD_discovery_cases-case138644L
Unknown
Unknown
Unknown
KIF21A
prasad_12_ASD_discovery_cases-case72816L
Unknown
Multiplex
Unknown
KIF21A
prasad_12_ASD_discovery_cases-case85179L
Unknown
Unknown
Unknown
GXYLT1,YAF2
prasad_12_ASD_discovery_cases-case88794
Unknown
Unknown
Unknown
NELL2
sanders_11_ASD_discovery_cases-11053.p1
Unknown
Simplex (quad-proband matched)
Segregated
sanders_11_ASD_discovery_cases-11073.p1
Maternal
Simplex (quad-proband matched)
Segregated
C12orf40,SLC2A13
sanders_11_ASD_discovery_cases-11158.p1
Maternal
Simplex (quad-proband matched)
Not segregated
MUC19
sanders_11_ASD_discovery_cases-11160.p1
Maternal
Simplex (quad-proband matched)
Not segregated
MUC19
sanders_11_ASD_discovery_cases-11168.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11223.p1
Maternal
Simplex (trio)
NA
sanders_11_ASD_discovery_cases-11296.p1
Paternal
Simplex (quad-proband matched)
Segregated
sanders_11_ASD_discovery_cases-11330.p1
Paternal
Simplex (quad-proband matched)
Not segregated
MUC19
sanders_11_ASD_discovery_cases-11355.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11378.p1
Paternal
Simplex (quad-proband matched)
Not segregated
PDZRN4
sanders_11_ASD_discovery_cases-11452.p1
Maternal
Simplex (quad-proband matched)
Not segregated
PLEKHA8P1,ANO6
sanders_11_ASD_discovery_cases-11485.p1
Maternal
Simplex (quad-proband matched)
Not segregated
MUC19
sanders_11_ASD_discovery_cases-11567.p1
Maternal
Simplex (quad-proband matched)
Not segregated
MUC19
sanders_11_ASD_discovery_cases-11567.p1
Maternal
Simplex (quad-proband matched)
Not segregated
LINC02471,LRRK2
sanders_11_ASD_discovery_cases-11616.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11710.p1
Maternal
Simplex (trio)
NA
MUC19
sanders_11_ASD_discovery_cases-11794.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11990.p1
Maternal
Simplex (quad-proband matched)
Not segregated
PRICKLE1
sanders_11_ASD_discovery_cases-11996.p1
Paternal
Simplex (trio)
NA
PDZRN4
sanders_11_ASD_discovery_cases-12020.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12051.p1
Maternal
Simplex (quad-proband matched)
Segregated
sanders_11_ASD_discovery_cases-12158.p1
Maternal
Simplex (trio)
NA
RNA5SP360,MTND2P17,MTND1P24
sanders_11_ASD_discovery_cases-12261.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12275.p1
Both parents
Simplex (quad-proband matched)
Segregated
sanders_11_ASD_discovery_cases-12370.p1
Paternal
Simplex (quad-proband matched)
Not segregated
AK6P2,CLUHP8,RNA5SP358,RNA5SP359,TUBB8P5,NF1P12,ALG10B
sanders_11_ASD_discovery_cases-12396.p1
Paternal
Simplex (quad-proband matched)
Not segregated
AK6P2,CLUHP8
sanders_11_ASD_discovery_cases-12403.p1
Both parents
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12472.p1
Maternal
Simplex (trio)
NA
sanders_11_ASD_discovery_cases-12485.p1
Both parents
Simplex (trio)
NA
sanders_11_ASD_discovery_cases-12497.p1
Maternal
Simplex (quad-proband matched)
Not segregated
MUC19
sanders_11_ASD_discovery_cases-12534.p1
Both parents
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12597.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12610.p1
Maternal
Simplex (quad-proband matched)
Not segregated
MUC19
sanders_11_ASD_discovery_cases-12665.p1
Maternal
Simplex (trio)
NA
MUC19
sanders_11_ASD_discovery_cases-12670.p1
Maternal
Simplex (trio)
NA
sanders_11_ASD_discovery_cases-12784.p1
Paternal
Simplex (quad-proband matched)
Not segregated
PDZRN4
sanders_11_ASD_discovery_cases-12972.p1
Paternal
Simplex (quad-proband matched)
Not segregated
MUC19
sanders_11_ASD_discovery_cases-13136.p1
Paternal
Simplex (quad-proband matched)
Not segregated
MUC19
sanders_11_ASD_discovery_cases-13166.p1
Paternal
Simplex (quad-proband matched)
Not segregated
szatmari_07_ASD_discovery_cases-NAAR033-A8-3271.005
Karyotyping, qPCR, aCGH, array SNP, or overlap with Mendelian genotype errors
Unknown
NA
NA
szatmari_07_ASD_discovery_cases-NAAR033-E7-3271.001
Karyotyping, qPCR, aCGH, array SNP, or overlap with Mendelian genotype errors
Unknown
NA
NA
vaags_11_ASD_replication_cases_2-probandF4-003
Unknown
Simplex
Unknown
AK6P2,CLUHP8,RNA5SP358,RNA5SP359,TUBB8P5,NF1P12,ALG10B
wang_10_ASD_discovery_cases-AC0093
Unknown
NA
NA
RPL30P13,LINC02555,RNU6-713P,RNA5SP360,MTND2P17,MTND1P24,LINC02400,MIR7851,RNU6-249P,RPS27P21,MRPS36P5,EEF1A1P17,LINC02471,GXYLT1,ZCRB1,LINC02402,LINC02451,LINC02450,LINC02461,PUS7L,TWF1,KIF21A,ABCD2,LRRK2,MUC19,PDZRN4,YAF2,PPHLN1,PRICKLE1,ADAMTS20,IRAK4,C12orf40,SLC2A13,CNTN1,TMEM117
yin_16_ASD_discovery_cases-case435
Unknown
Unknown
Unknown
GXYLT1
Controls
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
brandler_18_ASD_discovery_controls-controlSSC02109
Not available
Maternal
ARID2
brandler_18_ASD_discovery_controls-controlSSC03403
PCR or SNP data validation
Maternal
NELL2
engchuan_15_ASD_discovery_controls-controlB378731_1007852637
Unknown
NELL2
engchuan_15_ASD_discovery_controls-controlB980299_0067942608
Unknown
CPNE8-AS1,ALG10B,LINC02406,CPNE8
kanduri_15_ASD_discovery_controls-control_split1307
Unknown
ABCD2,C12orf40,SLC2A13
levy_11_ASD_discovery_controls-11452.s1
Maternal
Simplex
NA
PLEKHA8P1,ANO6
levy_11_ASD_discovery_controls-12370.s1
Paternal
Simplex
NA
ALG10B
sanders_11_ASD_discovery_controls-11088.s1
Unknown
Simplex (quad)
NA
ABCD2
sanders_11_ASD_discovery_controls-11142.s1
Unknown
Simplex (quad)
NA
RACGAP1P,DBX2
sanders_11_ASD_discovery_controls-11160.s1
Maternal
Simplex (quad)
NA
MUC19
sanders_11_ASD_discovery_controls-11355.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11452.s1
Maternal
Simplex (quad)
NA
PLEKHA8P1,ANO6
sanders_11_ASD_discovery_controls-11567.s1
Maternal
Simplex (quad)
NA
MUC19
sanders_11_ASD_discovery_controls-11567.s1
Maternal
Simplex (quad)
NA
LINC02471,LRRK2
sanders_11_ASD_discovery_controls-11569.s1
Paternal
Simplex (quad)
NA
MUC19
sanders_11_ASD_discovery_controls-11571.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11616.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11788.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11818.s1
Paternal
Simplex (quad)
NA
MUC19
sanders_11_ASD_discovery_controls-11919.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12261.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12370.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12396.s1
Paternal
Simplex (quad)
NA
AK6P2,CLUHP8
sanders_11_ASD_discovery_controls-12462.s1
Paternal
Simplex (quad)
NA
MUC19
sanders_11_ASD_discovery_controls-12598.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12626.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12722.s1
Unknown
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12892.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12956.s1
Paternal
Simplex (quad)
NA
ADAMTS20
sanders_11_ASD_discovery_controls-12972.s1
Paternal
Simplex (quad)
NA
MUC19
sanders_11_ASD_discovery_controls-13166.s1
Paternal
Simplex (quad)
NA
No Animal Model Data Available