6p12.1CNV Type: Deletion-Duplication
Largest CNV size: 1074707 bp
Statistics Box:
Number of Reports: 16
Number of Reports: 16
Summary Information
A maternally-inherited duplication in the 6p12.1 locus was identified in a proband with ASD and intellectual disability as part of a screen for cases with CHRNA7 duplications (Gillentine et al., 2016).
Additional Locus Information
References
Major Reports
Title
Author, Year
Report Class
CNV Type
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
Refinement and discovery of new hotspots of copy-number variation associated with autism spectrum disorder.
Deletion-Duplication
Minor Reports
Title
Author, Year
Report Class
CNV Type
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
Use of array CGH to detect exonic copy number variants throughout the genome in autism families detects a novel deletion in TMLHE.
Duplication
Rare deletions at the neurexin 3 locus in autism spectrum disorder.
Deletion
Novel candidate genes and regions for childhood apraxia of speech identified by array comparative genomic hybridization.
Duplication
A discovery resource of rare copy number variations in individuals with autism spectrum disorder.
Deletion
Prospective diagnostic analysis of copy number variants using SNP microarrays in individuals with autism spectrum disorders.
Deletion
Transmission disequilibrium of small CNVs in simplex autism.
Duplication
Performance of case-control rare copy number variation annotation in classification of autism.
Deletion-Duplication
Copy-number variations are enriched for neurodevelopmental genes in children with developmental coordination disorder.
Deletion
The Cognitive and Behavioral Phenotypes of Individuals with CHRNA7 Duplications.
Duplication
Comparative Analyses of Copy-Number Variation in Autism Spectrum Disorder and Schizophrenia Reveal Etiological Overlap and Biological Insights.
Deletion
Cases
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
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
133
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
77066
21
6
27
gillentine_16_ASD/ADHD/DD/ID_discovery_cases
18 patients from 17 families evaluated by providers at Texas Children's Hospital and tested by clinical chromosomal microarray (CMA) by the Baylor Genetics Laboratory (BGL) or Signature Genomic Laboratory for CHRNA7 duplications
18
7/17 cases met criteira for ASD based on clinical impression; 11/18 cases presented with ADHD. Cognitive and behavioral testing included the Differential Ability Scales, Second Edition (DAS-II), the Autism Diagnostic Interview-Revised (ADI-R), the Autism Diagnostic Observation Schedule, Second Edition (ADOS-2), the Adaptive Behavior Assessment System, Second Edition (ABAS-II), and the Behavioral Assessment for Children, Second Edition (BASC-2).
Average, 9.9 years
66.67% Male
1074707
0
1
1
girirajan_13a_ASD_discovery_cases
1979 simplex cases from the Simons Simplex Collection (SSC), 579 multiplex cases from AGRE.
2588
Diagnosis of ASD based on meeting criteria on the Autism Diagnostic Observation Schedule (ADOS) and on the Autism Diagnostic Interview, Revised (ADI-R)
NA
NA
44680
3
5
8
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
2562744
1
1
2
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
4090
0
1
1
krumm_15_ASD_discovery_cases
Probands from the Simons Simplex Collection
2377
Diagnosis of ASD
N/A
N/A
119629
0
5
5
kushima_18_SCZ_discovery_cases
Individuals predominantly recruited from the middle of Honshu Island (Japan)
2458
Cases were diagnosed with schizophrenia (SCZ) according to DSM-5 criteria.
Median age, 44 years
55.0% Male
45799
2
0
2
laffin_12_CAS_discovery_cases
Participants recruited and consented for a study of pediatric motor speech disorders
24
Diagnosis of childhood apraxia of speech (CAS) assessed by Madison Speech Assessment Protocol.
Mean, 8.3 3.7 yrs.
66% Male
714847
0
1
1
levy_11_ASD_discovery_cases
Autistic probands from 887 families from the Simons Simplex Collection (SSC)
858
ASD
87.06% Male
80127
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
28849
1
0
1
nava_13_ASD_discovery_cases
Subjects recruited in the Centre de Reference deficiences intellectuelles de causes rares', the 'Centre Diagnostic Autisme', Pitie-Salpetriere Hospital (Paris, France) or the Fondation Lejeune over a period of 3 years (20092011).
194
Cases assessed with ADI-R
N/A
83.5% Male
102000
1
0
1
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
42729
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
10094
2
0
2
sanders_11_ASD_discovery_cases
Autistic probands from the Simons Simplex Collection (SSC). 872 probands in quartet families, 272 probands in trios.
1124
ASD diagnosis: 89.5% autism; 8.5% PDD-NOS, 2% Asperger syndrome. Mean full-scale IQ 85.1 1.5 (mean verbal IQ, 81.9 1.7; mean non-verbal IQ, 88.4 1.4)
Mean, 9.1 yrs.
86.1% Male
205611
49
3
52
vaags_11_ASD_discovery_cases
Discovery cohort of Canadian individuals with ASD
1158
ASD
NA
NA
20391
1
0
1
Controls
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
bacchelli_20_ASD_discovery_controls
Anonymized DNA samples from Italian individuals with no psychiatric disorders
365
Control
N/A
54.52% Male
30675
1
1
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
77066
30
4
34
girirajan_13a_ASD_discovery_controls1
NIMH control cohort consisting of 207 DNA samples obtained from Rutgers Univ. Cell and DNA Repository, and 373 individuals from ClinSeq study of artherosclerotic disease
580
Control. Individuals from NIMH control cohort negative for DSM-IV criteria for major depression and history of bipolar disorder or psychosis.
NA
NA
44680
1
0
1
girirajan_13a_ASD_discovery_controls2
Controls characterized through the Wellcome Trust Case-Control Consortium (WTCCC) for smaller hotspot regions and candidate-gene events
2090
Control
NA
NA
N/A
1
0
1
kaminsky_11_DD/ID/ASD_discovery_controls
Controls from the International Standards for Cytogenomic Arrays (ISCA) consortium
10118
Controls
NA
NA
NA
NA
NA
NA
krumm_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
4090
0
1
1
krumm_15_ASD_discovery_controls
Unaffected siblings from quad families from the Simons Simplex Collection
1786
Control
N/A
N/A
233190
2
2
4
kushima_18_ASD/SCZ_discovery_controls
Individuals selected from the general population and predominantly recruited from the middle of Honshu Island (Japan)
2095
Controls had no history of mental disorders based upon responses to questionnaires or self-reporting.
Median age, 37 years
52.0% Male
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
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)
10094
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.
333792
37
1
38
Cases
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
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
gillentine_16_ASD/ADHD/DD/ID_discovery_cases
N/A
CMA
Platform N/A
None
girirajan_13a_ASD_discovery_cases
NA
aCGH
Custom microarray with a high density of probes targeted to 1,367 regions with a susceptible genomic architecture
ADM-2
Agilent Genomic Workbench
aCGH (NimbleGen 135K array)
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_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)
kushima_18_SCZ_discovery_cases
Japanese
aCGH
NimbleGen 720K, Agilent 400K
FASST2
Nexus Copy Number v.9.0
N/A
laffin_12_CAS_discovery_cases
NA
aCGH
Customized 385K NimbleGen array with increased coverage of genes & regions previously associated with CAS
OGT CytoSure Interpret v.3.4.3
None
levy_11_ASD_discovery_cases
aCGH
NimbleGen HD2
HMM
mosca_16_DCD_discovery_cases
Canada
Solid phase hybridization
Illumina HumanOmni2.5-Quad BeadChip
iPattern, PennCNV, QuantiSNP, CNVPartition
None
nava_13_ASD_discovery_cases
France
Solid phase hybridization
Illumina cytoSNP-12, Illumina 660W-Quad, Illumina 370CNV-Quad
GenomeStudio v.2011.1, CNVPartition v.3.1.6
None
o'roak_12_ASD_discovery_cases
NA
WES
NimbleGen EZ Exome V2.0, Illumina GAIIx or HiSeq2000
HMM
mrsFAST aligner
aCGH, Sanger sequencing
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
vaags_11_ASD_discovery_cases
Canadian
aCGH, array SNP, solid phase hybridization
Affymetrix 6.0, Illumina Infinium 1M, Illumina Omni 2.5M, Agilent 1M
None
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
girirajan_13a_ASD_discovery_controls1
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
girirajan_13a_ASD_discovery_controls2
NA
Solid phase hybridization
Illumina 1.2M SNP microarray
None
kaminsky_11_DD/ID/ASD_discovery_controls
NA
aCGH
Agilent 44K, Agilent 105K
Feature Extraction, DNA Analytics
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)
kushima_18_ASD/SCZ_discovery_controls
Japanese
aCGH
NimbleGen 720K, Agilent 400K
FASST2
Nexus Copy Number v.9.0
N/A
levy_11_ASD_discovery_controls
aCGH
NimbleGen HD2
HMM
prasad_12_ASD_discovery_controls
NA
aCGH
Agilent 1M
ADM-2, DNAcopy (R Bioconductor)
DNA Analytics v4.0.85 (Agilent), DNAcopy
sanders_11_ASD_discovery_controls
Solid phase hybridization
Illumina 1M v1 or Illumina 1M v3
PennCNV, QuantiSNP, GNOSIS
Cases
Patient ID
Author, Year
Age
Gender
Primary Diagnosis
Clinical Profile
Cognitive Profile
CNV Start
CNV End
CNV Size
Genome Build
Type Method
Validation
celestino-soper_11_ASD_discovery_cases-11291
NA
M
ASD
NA
NA
55495528
55495661
134
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case1050_3
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
57048655
57089752
41098
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case13117_1343
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
52747644
52824710
77067
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case13145_1623
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
55961339
55997446
36108
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case14032_600
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
55961339
55997446
36108
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case14169_2750
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
55961339
55997446
36108
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case14201_3250
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
55961339
56010468
49130
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case14265_3880
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
57048655
57089752
41098
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case14308_4250
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
57046086
57089752
43667
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case16067_1571134001
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
52747644
52824710
77067
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case3031_4
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
55961339
55997446
36108
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case3077_4
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
55961339
55997446
36108
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case3095_3
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
55961339
55997446
36108
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case3174_3
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
55961339
55997446
36108
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case4145_1
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
55961339
55997446
36108
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case4299_1
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
57048655
57089752
41098
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case4319_1
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
55961339
56010468
49130
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case4430_1
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
55959215
56010468
51254
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case4448_100
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
55961339
55997446
36108
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case4461_1
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
55961339
55997446
36108
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case4509_1
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
55959215
56010468
51254
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case4526_1
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
55959215
56010468
51254
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case5131_3
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
57048655
57088913
40259
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case5469_3
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
55961339
55997446
36108
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case6125_4
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
54827942
54863388
35447
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case6245_4
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
54516614
54547115
30502
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case6300_3
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
57040244
57089752
49509
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case8048_202
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
57048655
57089752
41098
GRCh38
Duplication
No
gillentine_16_ASD/ADHD/DD/ID_discovery_cases-patient16
13 yrs.
F
ASD and intellectual disability
Case met or exceeded cutoff scores in all behavioral areas on ADI-R and met criteria for autism on ADOS (clinical impression of ASD). Original reason for referral: Intellectual disability, speech delay, history of submucous cleft palate. Developmental milestones: sitting at 7 months, crawling at 9 months, walking at 16 months, first word at 48 months, two word sentences at 96 months. Langauge and communication evaluation: language impairment. Motor and musculoskeletal evaluation: no hypotobia. Behavioral/psychiatric evaluation: no ADHD. Epilepsy/seizures: no seizures. Growth parameters: height 50th %ile, weight 15th %ile, OFC 75th %ile. Ethnicity: Caucasian/Korean. Family history: carrier parental phenotype, father has a history of apraxia and reading problems, as well as a history of reading therapy; noncarrier parental phenotype, mohter has a history of hypotonia and comprehension problems in school, as well as a history of mild depression; two siblings with unspecified neuropsychiatric conditions (one with additional cognitive deficits) that tested negative for the CHRNA7 duplication.
Full scale ratio IQ (DAS-II): 77.
54389981
55464687
1074707
GRCh38
Duplication
No
girirajan_13a_ASD_discovery_cases-11425.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
57047023
57091703
44681
GRCh38
Duplication
Yes
girirajan_13a_ASD_discovery_cases-11468.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
57047023
57091703
44681
GRCh38
Duplication
Yes
girirajan_13a_ASD_discovery_cases-11933.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
57047023
57091703
44681
GRCh38
Duplication
No
girirajan_13a_ASD_discovery_cases-12106.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
57047023
57091703
44681
GRCh38
Duplication
Yes
girirajan_13a_ASD_discovery_cases-13415.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
57047023
57091703
44681
GRCh38
Deletion
Yes
girirajan_13a_ASD_discovery_cases-13865.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
57047023
57091703
44681
GRCh38
Deletion
Yes
girirajan_13a_ASD_discovery_cases-AU1187301
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
57047023
57091703
44681
GRCh38
Duplication
Yes
girirajan_13a_ASD_discovery_cases-AU1559301
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
57047023
57091703
44681
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002241
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
54263893
56826637
2562745
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005173
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
53931543
54584920
653378
GRCh38
Duplication
Yes
krumm_13_ASD_discovery_cases-case12106.p1
N/A
M
ASD
ASD proband from SSC quad family 12106. SRS score of 88.
Full-scale IQ (FSIQ) score of 112.
57050773
57054863
4091
GRCh38
Duplication
No (not tested)
krumm_15_ASD_discovery_cases-case11425.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
57047312
57054863
7552
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_cases-case11468.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Trio
57050763
57090316
39554
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_cases-case11933.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
57050763
57090316
39554
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_cases-case12106.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
57050763
57090316
39554
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_cases-case13822.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Trio
55282224
55401853
119630
GRCh38
Duplication
Yes
kushima_18_SCZ_discovery_cases-caseSCZ0326
42 yrs.
M
Schizophrenia
No additional clinical information reported for this individual. Family history: unknown.
57046622
57092420
45799
GRCh38
Deletion
N/A
kushima_18_SCZ_discovery_cases-caseSCZ1153
55 yrs.
M
Schizophrenia
No additional clinical information reported for this individual. Family history: unknown.
57046622
57088889
42268
GRCh38
Deletion
N/A
laffin_12_CAS_discovery_cases-case11
10-15 yrs.
NA
CAS
Years of apraxia treatment: 8. Familial status: positive (one or more nuclear family members with a verbal trait disorder including speech disorder, language disorder, reading disorder, cognitive disability, or learning disability). Language impairment: impairments in language onset, comprehension, and expression. Motor impairment: impairment in oral-nonverbal motor assessment tasks.
Cognitive impairment
56638372
57353219
714848
GRCh38
Duplication
No
levy_11_ASD_discovery_cases-11356.p1
NA
F
ASD
NA
NA
52747187
52827313
80127
GRCh38
Deletion
No
mosca_16_DCD_discovery_cases-case124803
N/A
M
DCD (with or without ADHD and/or RD)
Ancestry: unknown. Family history: maternal diagnosis unknown; paternal diagnosis unknown.
55533901
55562749
28849
GRCh38
Deletion
No
nava_13_ASD_discovery_cases-Fam1010Proband9713
N/A
M
ASD
Additional clinical profile info N/A
ID
52645867
52747644
101778
GRCh38
Deletion
No
o'roak_12_ASD_discovery_cases-case13415.p1
NA
M
ASD/Autism
Case also identified with de novo BRSK2 in-frame deletion mutation, de novo CNOT4 missense mutation, and de novo C9orf68 synonymous mutation. No additional clinical info available.
Low IQ. Non verbal IQ, 48
57047023
57089752
42730
GRCh38
Deletion
Yes
prasad_12_ASD_discovery_cases-case50089
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
52664901
52671398
6498
Unknown
Deletion
No
prasad_12_ASD_discovery_cases-case60682L
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
55714392
55724485
10094
Unknown
Deletion
No
sanders_11_ASD_discovery_cases-11057.p1
8.7
M
Autism
NA
Full-scale IQ, 89; non-verbal IQ, 89; verbal IQ, 95
55961339
55997446
36108
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11063.p1
9.3
M
Aspergers
NA
Full-scale IQ, 101; non-verbal IQ, 101; verbal IQ, 103
55961339
55984426
23088
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
52747644
52824710
77067
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11085.p1
10.4
M
Autism
NA
Full-scale IQ, 61; non-verbal IQ, 68; verbal IQ, 51
55961339
55981729
20391
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11115.p1
13.8
F
Autism
NA
Full-scale IQ, 37; non-verbal IQ, 46; verbal IQ, 19
55961339
55971820
10482
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11265.p1
14.3
M
Aspergers
NA
Full-scale IQ, 106; non-verbal IQ, 98; verbal IQ, 120
55959215
55984426
25212
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11291.p1
4.8
M
Autism
NA
Full-scale IQ, 86; non-verbal IQ, 83; verbal IQ, 99
55959215
55981729
22515
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11300.p1
10.1
M
Autism
NA
Full-scale IQ, 96; non-verbal IQ, 97; verbal IQ, 94
55961339
55981729
20391
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11323.p1
8.6
F
Autism
NA
Full-scale IQ, 109; non-verbal IQ, 114; verbal IQ, 98
55961339
55984426
23088
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11336.p1
10.4
M
Autism
NA
Full-scale IQ, 123; non-verbal IQ, 124; verbal IQ, 114
55961339
55981729
20391
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11356.p1
11.5
F
Autism
NA
Full-scale IQ, 72; non-verbal IQ, 72; verbal IQ, 77
52747644
52829912
82269
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11367.p1
7.6
M
Aspergers
NA
Full-scale IQ, 115; non-verbal IQ, 119; verbal IQ, 119
55961339
55981729
20391
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11368.p1
5.9
M
Autism
NA
Full-scale IQ, 89; non-verbal IQ, 89; verbal IQ, 95
55961339
55981729
20391
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11425.p1
9.7
M
Autism
NA
Full-scale IQ, 103; non-verbal IQ, 104; verbal IQ, 102
57048655
57089752
41098
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11437.p1
16.6
M
Autism
NA
Full-scale IQ, 82; non-verbal IQ, 102; verbal IQ, 65
52747644
52824710
77067
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11463.p1
7.6
M
Autism
NA
Full-scale IQ, 88; non-verbal IQ, 98; verbal IQ, 79
55961339
55981729
20391
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11468.p1
10.7
M
Aspergers
NA
Full-scale IQ, 89; non-verbal IQ, 92; verbal IQ, 87
57048655
57089752
41098
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11488.p1
11
M
Autism
NA
Full-scale IQ, 91; non-verbal IQ, 99; verbal IQ, 80
55959215
55984426
25212
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11522.p1
11.3
M
Autism
NA
Full-scale IQ, 67; non-verbal IQ, 79; verbal IQ, 60
55959215
55984426
25212
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11597.p1
12.3
M
Autism
NA
Full-scale IQ, 130; non-verbal IQ, 118; verbal IQ, 128
52759009
52797304
38296
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11600.p1
14.8
M
Autism
NA
Full-scale IQ, 101; non-verbal IQ, 112; verbal IQ, 99
55961339
55981729
20391
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11615.p1
12.6
M
Autism
NA
Full-scale IQ, 83; non-verbal IQ, 83; verbal IQ, 89
55961339
55981729
20391
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11625.p1
11.6
M
Autism
NA
Full-scale IQ, 34; non-verbal IQ, 44; verbal IQ, 14
55059679
55087120
27442
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11693.p1
5.3
M
Autism
NA
Full-scale IQ, 78; non-verbal IQ, 76; verbal IQ, 88
55961339
55981729
20391
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11811.p1
16.9
M
Autism
NA
Full-scale IQ, 77; non-verbal IQ, 79; verbal IQ, 80
55961339
55981729
20391
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11843.p1
14.3
F
Autism
NA
Full-scale IQ, 115; non-verbal IQ, 113; verbal IQ, 117
55959215
55981729
22515
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11878.p1
9.5
M
Autism
NA
Full-scale IQ, 78; non-verbal IQ, 72; verbal IQ, 94
52759009
52797304
38296
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12007.p1
8.7
F
Autism
NA
Full-scale IQ, 64; non-verbal IQ, 54; verbal IQ, 83
55961339
55981729
20391
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12031.p1
13.5
M
Autism
NA
Full-scale IQ, 123; non-verbal IQ, 108; verbal IQ, 133
55961339
55981729
20391
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12106.p1
9.3
M
Autism
NA
Full-scale IQ, 112; non-verbal IQ, 110; verbal IQ, 113
57052740
57089752
37013
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12154.p1
4
M
Autism
NA
Full-scale IQ, 90; non-verbal IQ, 95; verbal IQ, 87
55961339
55997446
36108
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12211.p1
6.2
F
Autism
NA
Full-scale IQ, 62; non-verbal IQ, 57; verbal IQ, 82
55961339
55981729
20391
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12272.p1
5.4
M
Autism
NA
Full-scale IQ, 70; non-verbal IQ, 79; verbal IQ, 62
55693935
55735055
41121
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12295.p1
15.6
M
Autism
NA
Full-scale IQ, 104; non-verbal IQ, 110; verbal IQ, 93
55961339
55981729
20391
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12299.p1
6.3
M
Autism
NA
Full-scale IQ, 118; non-verbal IQ, 113; verbal IQ, 125
55961339
55981729
20391
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12341.p1
13.8
M
Autism
NA
Full-scale IQ, 109; non-verbal IQ, 117; verbal IQ, 114
55960697
55981729
21033
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12359.p1
9.3
M
Autism
NA
Full-scale IQ, 78; non-verbal IQ, 87; verbal IQ, 69
55370560
55378351
7792
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12360.p1
6.8
M
Autism
NA
Full-scale IQ, 104; non-verbal IQ, 104; verbal IQ, 101
55961339
55981729
20391
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12383.p1
9
M
Autism
NA
Full-scale IQ, 101; non-verbal IQ, 88; verbal IQ, 90
55961339
55981729
20391
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12494.p1
7.9
M
Autism
NA
Full-scale IQ, 59; non-verbal IQ, 67; verbal IQ, 56
55961339
55981729
20391
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12536.p1
5.9
M
Autism
NA
Full-scale IQ, 85; non-verbal IQ, 90; verbal IQ, 81
55961339
55981729
20391
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12596.p1
4.9
M
Autism
NA
Full-scale IQ, 61; non-verbal IQ, 89; verbal IQ, 32
54354528
54560139
205612
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12761.p1
5.4
M
Autism
NA
Full-scale IQ, 102; non-verbal IQ, 109; verbal IQ, 89
55961339
55981729
20391
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12924.p1
5.5
F
Autism
NA
Full-scale IQ, 104; non-verbal IQ, 117; verbal IQ, 81
55961339
55981729
20391
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12937.p1
17.3
M
Autism
NA
Full-scale IQ, 35; non-verbal IQ, 40; verbal IQ, 26
55961339
55981729
20391
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12948.p1
17.9
F
Autism
NA
Full-scale IQ, 65; non-verbal IQ, 57; verbal IQ, 81
55961339
55981729
20391
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12962.p1
11.3
M
Autism
NA
Full-scale IQ, 79; non-verbal IQ, 82; verbal IQ, 78
53990691
54000869
10179
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-13016.p1
5.5
M
Aspergers
NA
Full-scale IQ, 98; non-verbal IQ, 102; verbal IQ, 93
55961339
55981729
20391
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-13120.p1
8
M
Autism
NA
Full-scale IQ, 113; non-verbal IQ, 109; verbal IQ, 118
55961339
55981729
20391
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-13171.p1
7.9
F
Autism
NA
Full-scale IQ, 51; non-verbal IQ, 59; verbal IQ, 45
55961339
55981729
20391
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-13244.p1
15.7
M
Autism
NA
Full-scale IQ, 68; non-verbal IQ, 74; verbal IQ, 63
55961339
55981729
20391
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-13322.p1
16.9
M
Autism
NA
Full-scale IQ, 59; non-verbal IQ, 62; verbal IQ, 56
52759009
52797304
38296
GRCh38
Deletion
No
vaags_11_ASD_discovery_cases-probandF2-003
3 yrs. 5 mos.
M
Autism
Diagnosis of autism based on ADI-R and ADOS-1. Language: Oral and Written Language Scales/OWLS, incomplete; Peabody Picture Vocabulary Test/PPVT-4, SS = 67 (<1%). Adaptive Behavior (measured by VABS-II): adaptive behavior composite (ABC) = 61 (<1%), communication (COM) = 63 (1%), daily living skills (DLS) = 60 (<1%), socialization (SOC) = 59 (<1%), and motor skills (MOT) = 72 (3%). Born at 31 weeks, asthma, juvenile arthritis. Family history: proband was one of three trizygotic triplets; sister with autism & nonabsent seizures (has NRXN3 deletion).
Leiter-R IQ: incomplete (test attempted but proband failed to complete)
55961339
55981729
20391
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
bacchelli_20_ASD_discovery_controls-control10011
N/A
F
Control
Control
57039819
57056006
16188
GRCh38
Duplication
No
bacchelli_20_ASD_discovery_controls-control20039
N/A
M
Control
Control
57052710
57083384
30675
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-control110036004877_
N/A
N/A
Control
No previous psychiatric history
55961339
56021776
60438
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-control110036021087_
N/A
N/A
Control
No previous psychiatric history
57048655
57089752
41098
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-control110036021954_
N/A
N/A
Control
No previous psychiatric history
55951929
55984426
32498
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlB100331_1007873991
N/A
N/A
Control
No previous psychiatric history
57048655
57095814
47160
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlB107311_1007871675
N/A
N/A
Control
No previous psychiatric history
55830578
55869422
38845
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlB257988_1007841389
N/A
N/A
Control
No previous psychiatric history
55961339
55997446
36108
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlB266791_1007871681
N/A
N/A
Control
No previous psychiatric history
55961339
55997446
36108
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlB404952_1007854757
N/A
N/A
Control
No previous psychiatric history
52747644
52824710
77067
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlB431062_1007840503
N/A
N/A
Control
No previous psychiatric history
55961339
55997446
36108
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlB431282_1007873513
N/A
N/A
Control
No previous psychiatric history
55959215
55997446
38232
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlB487470_1007873444
N/A
N/A
Control
No previous psychiatric history
55961339
55997446
36108
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlB532470_1007875811
N/A
N/A
Control
No previous psychiatric history
55959215
56010468
51254
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlB549487_1007840956
N/A
N/A
Control
No previous psychiatric history
55961339
55997446
36108
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlB585576_1007875272
N/A
N/A
Control
No previous psychiatric history
55961339
55997446
36108
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlB647746_1007873514
N/A
N/A
Control
No previous psychiatric history
57048655
57093298
44644
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlB666611_1007875265
N/A
N/A
Control
No previous psychiatric history
55961339
55997446
36108
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlB697807_1007852545
N/A
N/A
Control
No previous psychiatric history
55959215
56010468
51254
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlB759914_1007846064
N/A
N/A
Control
No previous psychiatric history
55961339
55997446
36108
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlB764705_1007853643
N/A
N/A
Control
No previous psychiatric history
57048655
57089752
41098
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlB771183_1007874859
N/A
N/A
Control
No previous psychiatric history
57048655
57089752
41098
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlB791991_1007852595
N/A
N/A
Control
No previous psychiatric history
55961339
55997446
36108
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlB826617_0067942631
N/A
N/A
Control
No previous psychiatric history
55959215
56010468
51254
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlB830766_1007854715
N/A
N/A
Control
No previous psychiatric history
55961339
55997446
36108
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlB841482_1007854027
N/A
N/A
Control
No previous psychiatric history
55961339
55997446
36108
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlB855640_1007853300
N/A
N/A
Control
No previous psychiatric history
55960697
55997446
36750
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlB911786_1007854079
N/A
N/A
Control
No previous psychiatric history
55959215
55997446
38232
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlB916240_1007854325
N/A
N/A
Control
No previous psychiatric history
55959215
55997446
38232
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlB984152_1007842480
N/A
N/A
Control
No previous psychiatric history
55961339
55997446
36108
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlHABC_900067_900067
N/A
N/A
Control
No previous psychiatric history
52747644
52824710
77067
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlHABC_900293_900293
N/A
N/A
Control
No previous psychiatric history
52747644
52824710
77067
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlHABC_900599_900599
N/A
N/A
Control
No previous psychiatric history
57048655
57089720
41066
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlHABC_900773_900773
N/A
N/A
Control
No previous psychiatric history
57048655
57089752
41098
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlHABC_901195_901195
N/A
N/A
Control
No previous psychiatric history
56361235
56407888
46654
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlHABC_902662_902662
N/A
N/A
Control
No previous psychiatric history
57048655
57089752
41098
GRCh38
Deletion
No
girirajan_13a_ASD_discovery_controls1-control5
N/A
N/A
Control
N/A
N/A
57047023
57091703
44681
GRCh38
Deletion
No
girirajan_13a_ASD_discovery_controls2-control31
N/A
N/A
Control
N/A
N/A
N/A
N/A
N/A
NCBI36
Deletion
No
krumm_13_ASD_discovery_controls-control12106.s1
N/A
F
Control
Unaffected sibling from SSC quad family 12106. SRS score of 56.
57050773
57054863
4091
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_controls-control11933.s1
N/A
Male
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
57046716
57099153
52438
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_controls-control12786.s1
N/A
Male
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
54121446
54354636
233191
GRCh38
Deletion
Yes
krumm_15_ASD_discovery_controls-control13129.s1
N/A
Female
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
57050763
57090316
39554
GRCh38
Deletion
Yes
krumm_15_ASD_discovery_controls-control13968.s1
N/A
Male
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
55327554
55359138
31585
GRCh38
Duplication
Yes
sanders_11_ASD_discovery_controls-11057.s1
5.9
M
Control (matched sibling)
NA
NA
55961339
55971820
10482
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11059.s1
9.3
F
Control (matched sibling)
NA
NA
55959215
55984426
25212
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11063.s1
7.3
M
Control (matched sibling)
NA
NA
55959215
55997446
38232
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11086.s1
9.3
M
Control (matched sibling)
NA
NA
55961339
55981729
20391
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11115.s1
15.8
F
Control (matched sibling)
NA
NA
55961339
55981729
20391
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11156.s1
10.3
M
Control (matched sibling)
NA
NA
57048655
57089752
41098
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11229.s1
6.1
M
Control (matched sibling)
NA
NA
55961339
55981729
20391
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11265.s1
0
F
Control (matched sibling)
NA
NA
55961339
55981729
20391
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11300.s1
8
M
Control (matched sibling)
NA
NA
55961339
55981729
20391
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11336.s1
12.9
F
Control (matched sibling)
NA
NA
55959215
55984426
25212
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11368.s1
8.1
F
Control (matched sibling)
NA
NA
55961339
55981729
20391
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11488.s1
7.7
M
Control (matched sibling)
NA
NA
55961339
55981729
20391
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11511.s1
9
M
Control (matched sibling)
NA
NA
55961339
55981729
20391
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11526.s1
7.9
F
Control (matched sibling)
NA
NA
57048655
57093298
44644
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11597.s1
9
M
Control (matched sibling)
NA
NA
52759009
52799015
40007
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11615.s1
10.7
F
Control (matched sibling)
NA
NA
55961339
55981729
20391
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11625.s1
17.3
M
Control (matched sibling)
NA
NA
55059679
55087120
27442
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11654.s1
6.3
F
Control (matched sibling)
NA
NA
57048655
57093298
44644
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12007.s1
10.9
M
Control (matched sibling)
NA
NA
55961339
55981729
20391
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12106.s1
10.9
F
Control (matched sibling)
NA
NA
57052740
57089752
37013
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-12197.s1
5.8
F
Control (matched sibling)
NA
NA
55960697
55981729
21033
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12359.s1
6.3
F
Control (matched sibling)
NA
NA
55370560
55378351
7792
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12424.s1
6.2
F
Control (matched sibling)
NA
NA
55961339
55981729
20391
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12494.s1
11
F
Control (matched sibling)
NA
NA
55961339
55981729
20391
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12517.s1
11.7
M
Control (matched sibling)
NA
NA
55961339
55981729
20391
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12536.s1
4.9
F
Control (matched sibling)
NA
NA
55961339
55981729
20391
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12578.s1
8.8
F
Control (matched sibling)
NA
NA
55961339
55981729
20391
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12596.s1
6.3
F
Control (matched sibling)
NA
NA
54355397
54561078
205682
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12602.s1
6.8
F
Control (matched sibling)
NA
NA
55961339
55981729
20391
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12784.s1
8.4
M
Control (matched sibling)
NA
NA
55961339
55981729
20391
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12786.s1
4.9
M
Control (matched sibling)
NA
NA
55961339
55981729
20391
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12786.s1
4.9
M
Control (matched sibling)
NA
NA
54046858
54380650
333793
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12962.s1
8.3
F
Control (matched sibling)
NA
NA
53990691
54000869
10179
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-13036.s1
10.2
F
Control (matched sibling)
NA
NA
52759009
52797304
38296
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-13120.s1
6.2
M
Control (matched sibling)
NA
NA
55961339
55981729
20391
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-13171.s1
11.3
F
Control (matched sibling)
NA
NA
55961339
55981729
20391
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-13196.s1
12.1
M
Control (matched sibling)
NA
NA
55961339
55981729
20391
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-13322.s1
14.3
F
Control (matched sibling)
NA
NA
52759009
52797304
38296
GRCh38
Deletion
No
Cases
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
celestino-soper_11_ASD_discovery_cases-11291
Unknown
Simplex
NA
HMGCLL1
engchuan_15_ASD_discovery_cases-case1050_3
Unknown
KIAA1586,ZNF451
engchuan_15_ASD_discovery_cases-case13117_1343
Unknown
GSTA1,GSTA2,GSTA12P,GSTA6P
engchuan_15_ASD_discovery_cases-case13145_1623
Unknown
engchuan_15_ASD_discovery_cases-case14032_600
Unknown
engchuan_15_ASD_discovery_cases-case14169_2750
Unknown
engchuan_15_ASD_discovery_cases-case14201_3250
Unknown
engchuan_15_ASD_discovery_cases-case14265_3880
Unknown
KIAA1586,ZNF451
engchuan_15_ASD_discovery_cases-case14308_4250
Unknown
KIAA1586,ZNF451
engchuan_15_ASD_discovery_cases-case16067_1571134001
Unknown
GSTA1,GSTA2,GSTA12P,GSTA6P
engchuan_15_ASD_discovery_cases-case3031_4
Unknown
engchuan_15_ASD_discovery_cases-case3077_4
Unknown
engchuan_15_ASD_discovery_cases-case3095_3
Unknown
engchuan_15_ASD_discovery_cases-case3174_3
Unknown
engchuan_15_ASD_discovery_cases-case4145_1
Unknown
engchuan_15_ASD_discovery_cases-case4299_1
Unknown
KIAA1586,ZNF451
engchuan_15_ASD_discovery_cases-case4319_1
Unknown
engchuan_15_ASD_discovery_cases-case4430_1
Unknown
engchuan_15_ASD_discovery_cases-case4448_100
Unknown
engchuan_15_ASD_discovery_cases-case4461_1
Unknown
engchuan_15_ASD_discovery_cases-case4509_1
Unknown
engchuan_15_ASD_discovery_cases-case4526_1
Unknown
engchuan_15_ASD_discovery_cases-case5131_3
Unknown
KIAA1586,ZNF451
engchuan_15_ASD_discovery_cases-case5469_3
Unknown
engchuan_15_ASD_discovery_cases-case6125_4
Unknown
FAM83B
engchuan_15_ASD_discovery_cases-case6245_4
Unknown
engchuan_15_ASD_discovery_cases-case6300_3
Unknown
KIAA1586,ZNF451
engchuan_15_ASD_discovery_cases-case8048_202
Unknown
KIAA1586,ZNF451
gillentine_16_ASD/ADHD/DD/ID_discovery_cases-patient16
Maternal
Multi-generational
Unknown
CLNS1AP1,RPL10P10,RPSAP44,KRASP1,RNU6-1023P,TINAG,GFRAL,FAM83B,HCRTR2,HMGCLL1
girirajan_13a_ASD_discovery_cases-11425.p1
aCGH (NimbleGen 135K array)
Paternal
Simplex
Unknown
KIAA1586,ZNF451
girirajan_13a_ASD_discovery_cases-11468.p1
aCGH (NimbleGen 135K array)
Paternal
Simplex
Unknown
KIAA1586,ZNF451
girirajan_13a_ASD_discovery_cases-11933.p1
Unknown
Simplex
Unknown
KIAA1586,ZNF451
girirajan_13a_ASD_discovery_cases-12106.p1
aCGH (NimbleGen 135K array)
Paternal
Simplex
Unknown
KIAA1586,ZNF451
girirajan_13a_ASD_discovery_cases-13415.p1
aCGH (NimbleGen 135K array)
Paternal
Simplex
Unknown
KIAA1586,ZNF451
girirajan_13a_ASD_discovery_cases-13865.p1
aCGH (NimbleGen 135K array)
Maternal
Simplex
Unknown
KIAA1586,ZNF451
girirajan_13a_ASD_discovery_cases-AU1187301
aCGH (NimbleGen 135K array)
Paternal
Multiplex
Unknown
KIAA1586,ZNF451
girirajan_13a_ASD_discovery_cases-AU1559301
aCGH (NimbleGen 135K array)
Maternal
Multiplex
Unknown
KIAA1586,ZNF451
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002241
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
CLNS1AP1,RPL10P10,RPSAP44,KRASP1,RNU6-1023P,NPM1P36,DHFRP6,RCC2P7,TINAG,GFRAL,MLIP,FAM83B,HCRTR2,BMP5,COL21A1,HMGCLL1,DST
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005173
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
ERHP2,CLNS1AP1,TINAG,MLIP,MLIP-AS1,MLIP-IT1
krumm_13_ASD_discovery_cases-case12106.p1
Paternal
Simplex
Not segregated
KIAA1586
krumm_15_ASD_discovery_cases-case11425.p1
Illumina 1M
Paternal
Simplex
Segregated
KIAA1586
krumm_15_ASD_discovery_cases-case11468.p1
Illumina 1M
Paternal
Simplex
Segregated
KIAA1586,ZNF451
krumm_15_ASD_discovery_cases-case11933.p1
Illumina 1MDuo
Paternal
Simplex
Not segregated (CNV in unaffected sibling)
KIAA1586,ZNF451
krumm_15_ASD_discovery_cases-case12106.p1
Illumina 1MDuo
Paternal
Simplex
Segregated
KIAA1586,ZNF451
krumm_15_ASD_discovery_cases-case13822.p1
Omni2.5-4v1
Maternal
Simplex
Segregated
GFRAL,HCRTR2
kushima_18_SCZ_discovery_cases-caseSCZ0326
While a subset of CNVs were reported to have been validated by qPCR in the report, precisely which CNVs were validated was not reported
Unknown
Unknown
KIAA1586,ZNF451
kushima_18_SCZ_discovery_cases-caseSCZ1153
While a subset of CNVs were reported to have been validated by qPCR in the report, precisely which CNVs were validated was not reported
Unknown
Unknown
Unknown
KIAA1586,ZNF451
laffin_12_CAS_discovery_cases-case11
Unknown
Multiplex
Unknown
RPL17P26,RNU6-626P,OSTCP6,FTH1P15,MRPL30P1,KIAA1586,BAG2,RAB23,BEND6,ZNF451,ZNF451-AS1,PRIM2,DST
levy_11_ASD_discovery_cases-11356.p1
Maternal
Simplex
Segregated
GSTA1,GSTA2,GSTA12P,GSTA6P
mosca_16_DCD_discovery_cases-case124803
Unknown
Unknown
Unknown
HMGCLL1
nava_13_ASD_discovery_cases-Fam1010Proband9713
Unknown
Simplex
Unknown
TMEM14A,GSTA7P,GSTA8P
o'roak_12_ASD_discovery_cases-case13415.p1
aCGH, Sanger sequencing
Paternal
Simplex (quad)
Unknown
KIAA1586,ZNF451
prasad_12_ASD_discovery_cases-case50089
Unknown
Unknown
Unknown
0 genes
prasad_12_ASD_discovery_cases-case60682L
Unknown
Unknown
Unknown
0 genes
sanders_11_ASD_discovery_cases-11057.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11063.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11080.p1
Maternal
Simplex (trio)
NA
GSTA1,GSTA2,GSTA12P,GSTA6P
sanders_11_ASD_discovery_cases-11085.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11115.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11265.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11291.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11300.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11323.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11336.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11356.p1
Maternal
Simplex (quad-proband matched)
Not segregated
GSTA1,GSTA2,GSTA12P,GSTA6P
sanders_11_ASD_discovery_cases-11367.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11368.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11425.p1
Paternal
Simplex (quad-proband matched)
Segregated
KIAA1586,ZNF451
sanders_11_ASD_discovery_cases-11437.p1
Paternal
Simplex (quad-proband matched)
Not segregated
GSTA1,GSTA2,GSTA12P,GSTA6P
sanders_11_ASD_discovery_cases-11463.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11468.p1
Paternal
Simplex (trio)
NA
KIAA1586,ZNF451
sanders_11_ASD_discovery_cases-11488.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11522.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11597.p1
Paternal
Simplex (quad-proband matched)
Not segregated
GSTA1,GSTA2,GSTA12P
sanders_11_ASD_discovery_cases-11600.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11615.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11625.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11693.p1
Maternal
Simplex (trio)
NA
sanders_11_ASD_discovery_cases-11811.p1
Paternal
Simplex (trio)
NA
sanders_11_ASD_discovery_cases-11843.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11878.p1
Paternal
Simplex (trio)
NA
GSTA1,GSTA2,GSTA12P
sanders_11_ASD_discovery_cases-12007.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12031.p1
Paternal
Simplex (trio)
NA
sanders_11_ASD_discovery_cases-12106.p1
Paternal
Simplex (quad-proband matched)
Not segregated
KIAA1586,ZNF451
sanders_11_ASD_discovery_cases-12154.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12211.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12272.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12295.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12299.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12341.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12359.p1
Maternal
Simplex (quad-proband matched)
Not segregated
GFRAL
sanders_11_ASD_discovery_cases-12360.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12383.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12494.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12536.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12596.p1
Paternal
Simplex (quad-proband matched)
Not segregated
CLNS1AP1,TINAG
sanders_11_ASD_discovery_cases-12761.p1
Paternal
Simplex (trio)
NA
sanders_11_ASD_discovery_cases-12924.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12937.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12948.p1
Maternal
Simplex (trio)
NA
sanders_11_ASD_discovery_cases-12962.p1
Maternal
Simplex (quad-proband matched)
Not segregated
MLIP,MLIP-AS1,MLIP-IT1
sanders_11_ASD_discovery_cases-13016.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-13120.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-13171.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-13244.p1
Maternal
Simplex (trio)
NA
sanders_11_ASD_discovery_cases-13322.p1
Maternal
Simplex (quad-proband matched)
Not segregated
GSTA1,GSTA2,GSTA12P
vaags_11_ASD_discovery_cases-probandF2-003
Unknown
Multiplex
Unknown
Controls
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
bacchelli_20_ASD_discovery_controls-control10011
Unknown
KIAA1586
bacchelli_20_ASD_discovery_controls-control20039
Unknown
KIAA1586
engchuan_15_ASD_discovery_controls-control110036004877_
Unknown
engchuan_15_ASD_discovery_controls-control110036021087_
Unknown
KIAA1586,ZNF451
engchuan_15_ASD_discovery_controls-control110036021954_
Unknown
engchuan_15_ASD_discovery_controls-controlB100331_1007873991
Unknown
KIAA1586,ZNF451
engchuan_15_ASD_discovery_controls-controlB107311_1007871675
Unknown
BMP5
engchuan_15_ASD_discovery_controls-controlB257988_1007841389
Unknown
engchuan_15_ASD_discovery_controls-controlB266791_1007871681
Unknown
engchuan_15_ASD_discovery_controls-controlB404952_1007854757
Unknown
GSTA1,GSTA2,GSTA12P,GSTA6P
engchuan_15_ASD_discovery_controls-controlB431062_1007840503
Unknown
engchuan_15_ASD_discovery_controls-controlB431282_1007873513
Unknown
engchuan_15_ASD_discovery_controls-controlB487470_1007873444
Unknown
engchuan_15_ASD_discovery_controls-controlB532470_1007875811
Unknown
engchuan_15_ASD_discovery_controls-controlB549487_1007840956
Unknown
engchuan_15_ASD_discovery_controls-controlB585576_1007875272
Unknown
engchuan_15_ASD_discovery_controls-controlB647746_1007873514
Unknown
KIAA1586,ZNF451
engchuan_15_ASD_discovery_controls-controlB666611_1007875265
Unknown
engchuan_15_ASD_discovery_controls-controlB697807_1007852545
Unknown
engchuan_15_ASD_discovery_controls-controlB759914_1007846064
Unknown
engchuan_15_ASD_discovery_controls-controlB764705_1007853643
Unknown
KIAA1586,ZNF451
engchuan_15_ASD_discovery_controls-controlB771183_1007874859
Unknown
KIAA1586,ZNF451
engchuan_15_ASD_discovery_controls-controlB791991_1007852595
Unknown
engchuan_15_ASD_discovery_controls-controlB826617_0067942631
Unknown
engchuan_15_ASD_discovery_controls-controlB830766_1007854715
Unknown
engchuan_15_ASD_discovery_controls-controlB841482_1007854027
Unknown
engchuan_15_ASD_discovery_controls-controlB855640_1007853300
Unknown
engchuan_15_ASD_discovery_controls-controlB911786_1007854079
Unknown
engchuan_15_ASD_discovery_controls-controlB916240_1007854325
Unknown
engchuan_15_ASD_discovery_controls-controlB984152_1007842480
Unknown
engchuan_15_ASD_discovery_controls-controlHABC_900067_900067
Unknown
GSTA1,GSTA2,GSTA12P,GSTA6P
engchuan_15_ASD_discovery_controls-controlHABC_900293_900293
Unknown
GSTA1,GSTA2,GSTA12P,GSTA6P
engchuan_15_ASD_discovery_controls-controlHABC_900599_900599
Unknown
KIAA1586,ZNF451
engchuan_15_ASD_discovery_controls-controlHABC_900773_900773
Unknown
KIAA1586,ZNF451
engchuan_15_ASD_discovery_controls-controlHABC_901195_901195
Unknown
COL21A1
engchuan_15_ASD_discovery_controls-controlHABC_902662_902662
Unknown
KIAA1586,ZNF451
girirajan_13a_ASD_discovery_controls1-control5
Unknown
KIAA1586,ZNF451
girirajan_13a_ASD_discovery_controls2-control31
Unknown
KIAA1586
krumm_13_ASD_discovery_controls-control12106.s1
Solid phase hybridization (Illumina 1M) and aCGH (Agilent SurePrint G3 4x180K)
Paternal
Simplex
KIAA1586
krumm_15_ASD_discovery_controls-control11933.s1
Illumina 1MDuo
Paternal
KIAA1586,ZNF451
krumm_15_ASD_discovery_controls-control12786.s1
Illumina 1MDuo
Maternal
TINAG,MLIP
krumm_15_ASD_discovery_controls-control13129.s1
1M-Duov3
Paternal
KIAA1586,ZNF451
krumm_15_ASD_discovery_controls-control13968.s1
Omni2.5-4v1
Paternal
GFRAL
sanders_11_ASD_discovery_controls-11057.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11059.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11063.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11086.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11115.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11156.s1
Maternal
Simplex (quad)
NA
KIAA1586,ZNF451
sanders_11_ASD_discovery_controls-11229.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11265.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11300.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11336.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11368.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11488.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11511.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11526.s1
Paternal
Simplex (quad)
NA
KIAA1586,ZNF451
sanders_11_ASD_discovery_controls-11597.s1
Paternal
Simplex (quad)
NA
GSTA1,GSTA2,GSTA12P
sanders_11_ASD_discovery_controls-11615.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11625.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11654.s1
Paternal
Simplex (quad)
NA
KIAA1586,ZNF451
sanders_11_ASD_discovery_controls-12007.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12106.s1
Paternal
Simplex (quad)
NA
KIAA1586,ZNF451
sanders_11_ASD_discovery_controls-12197.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12359.s1
Maternal
Simplex (quad)
NA
GFRAL
sanders_11_ASD_discovery_controls-12424.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12494.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12517.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12536.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12578.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12596.s1
Paternal
Simplex (quad)
NA
CLNS1AP1,TINAG
sanders_11_ASD_discovery_controls-12602.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12784.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12786.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12786.s1
Maternal
Simplex (quad)
NA
TINAG,MLIP,MLIP-AS1
sanders_11_ASD_discovery_controls-12962.s1
Maternal
Simplex (quad)
NA
MLIP,MLIP-AS1,MLIP-IT1
sanders_11_ASD_discovery_controls-13036.s1
Maternal
Simplex (quad)
NA
GSTA1,GSTA2,GSTA12P
sanders_11_ASD_discovery_controls-13120.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-13171.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-13196.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-13322.s1
Maternal
Simplex (quad)
NA
GSTA1,GSTA2,GSTA12P
No Animal Model Data Available