17q22CNV Type: Deletion-Duplication
Largest CNV size: 687199 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
Genome-wide analyses of exonic copy number variants in a family-based study point to novel autism susceptibility genes.
Deletion
Functional impact of global rare copy number variation in autism spectrum disorders.
Duplication
An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabili...
Deletion
Convergence of genes and cellular pathways dysregulated in autism spectrum disorders.
Deletion
Performance of case-control rare copy number variation annotation in classification of autism.
Deletion-Duplication
Minor Reports
Title
Author, Year
Report Class
CNV Type
Identifying autism loci and genes by tracing recent shared ancestry.
Deletion
Rare structural variation of synapse and neurotransmission genes in autism.
Deletion
Multiple recurrent de novo CNVs, including duplications of the 7q11.23 Williams syndrome region, are strongly associated with autism.
Deletion-Duplication
Use of array CGH to detect exonic copy number variants throughout the genome in autism families detects a novel deletion in TMLHE.
Duplication
A discovery resource of rare copy number variations in individuals with autism spectrum disorder.
Duplication
Contribution of copy number variants involving nonsense-mediated mRNA decay pathway genes to neuro-developmental disorders.
Deletion-Duplication
Identification of small exonic CNV from whole-exome sequence data and application to autism spectrum disorder.
Duplication
Using extended pedigrees to identify novel autism spectrum disorder (ASD) candidate genes.
Duplication
The landscape of copy number variations in Finnish families with autism spectrum disorders.
Deletion
Genome-wide analysis of copy number variations identifies PARK2 as a candidate gene for autism spectrum disorder.
Deletion-Duplication
Cases
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
bogaert_23_DD/ID_discovery_cases
Individuals with de novo 17q22 microdeletions affecting the SRSF1 gene from an initial cohort of 17 individuals with heterozygous germline variation in the SRSF1 gene.
2
Both cases presented with developmental delay/intellectual disability (DD/ID); one case also presented with autistic features
Range, 4 yrs.-13 yrs. 6 mos.
One female, one NA
866702
2
0
2
bucan_09_ASD_discovery_cases
Individuals from 912 multiplex families (AGRE cohort)
3832
ASD
34235
6
4
10
bucan_09_ASD_replication_cases
Unrelated ASD patients (ACC cohort). 54% simplex, 46% multiplex
859
828 diagnosed with autism, 31 with other ASDs
Range, 2-21
81.8% Male
29600
2
0
2
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
134
0
1
1
cucinotta_23_ASD_discovery_cases
Idiopathic ASD patients from 310 families (263 simplex and 47 multiplex) recruited at the Service for Neurodevelopmental Disorders at Campus Bio-Medico University Hospital in Rome (Italy) and at the Interdepartmental Program Autism 090 of the G. Martino University Hospital (Messina, Italy) between the years 2012 and 2019.
329
Clinical diagnosis of ASD based on fulfilling DSM-5 criteria and confirmed using ADOS-2 and ADI-R.
NA
84.19% Male
28766
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
687198
6
3
9
gai_11_ASD_discovery_cases
Discovery case samples derived from AGRE set 4 (most recent patient recruitment)
631
Idiopathic autism; cases designated as 'spectrum' and 'not quite autism' excluded, as were cases with known genetic syndromes or other non-idiopathic causes
148937
2
0
2
itsara_10_ASD_discovery_cases
ASD probands from multiplex (n=1270) and simplex (n=60) families from AGRE collection
1330
ASD: Autism, broad spectrum autism (Spectrum), or NQA (not quite autism)
29600
1
0
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
1212380
3
0
3
kanduri_15_ASD_discovery_cases
Autistic cases from an initial sample of 83 Finnish families comprising 257 family members following quality control
80
Diagnosis of ASD based on DSM-IV, 4th edition, or ICD-10 criteria; patients screened based on Childhood Autism Rating Scale (CARS), Asperger Syndrome Screening Questionnaire, and Asperger's Syndrome Diagnostic Interview.
N/A
N/A
362387
1
0
1
krumm_15_ASD_discovery_cases
Probands from the Simons Simplex Collection
2377
Diagnosis of ASD
N/A
N/A
1270
0
1
1
larson_17_ASD_discovery_cases
Participants with a dual diagnosis of ASD and psychosis that were recruited from clinical services in the public and independent sectors in the United Kingdom, as well as from charities and an Asperger's syndrome social networking website (study took place from January 2011 and April 2014)
116
All cases with a dual diagnosis of ASD and psychosis (affective, schizophrenic, and atypical)
N/A
N/A
116753
0
1
1
morrow_08_ASD_discovery_cases
Affected individuals from 70 families (52 simplex, 18 multiplex) recruited by Homozygosity Mapping Collaborative for Autism (HMCA) used in CNV analysis. This cohort was selected from an original population of affected individuals from 104 families (79 simplex, 25 multiplex; 82.7% male); 88 of these pedigrees have cousin marriages.
94
ASD (based on DSM-IV-TR diagnoses when research scales not available in native language)
4900
2
0
2
nguyen_13_DD/ID/MCA/ASD_discovery_cases
Patients from the Developmental Gene Anatomy Project at Harvard Medical School (DGAP), the Developmental Gene Discovery Project at Georgia Health Sciences University (DGDP), the National Institute of General Medical Sciences Human Genetic Cell Repository (NIGMS), the Signature Genomic Laboratories Genoglyphix Chromosome Aberration Database, and DECIPHER
57365
Predominant cohort diagnosis of developmental delay/intellectual disability and/or mulitple congenital anomalies (MCA); 5 cases with additional diagnosis of autism/ASD
N/A
N/A
N/A
2
10
12
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
687199
0
1
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
112995
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)
106819
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
695094
0
1
1
sanders_11_ASD_discovery_cases
Autistic probands from the Simons Simplex Collection (SSC). 872 probands in quartet families, 272 probands in trios.
1124
ASD diagnosis: 89.5% autism; 8.5% PDD-NOS, 2% Asperger syndrome. Mean full-scale IQ 85.1 1.5 (mean verbal IQ, 81.9 1.7; mean non-verbal IQ, 88.4 1.4)
Mean, 9.1 yrs.
86.1% Male
287422
8
2
10
woodbury-smith_14_ASD_discovery_cases
Probands from 19 extended ASD pedigrees (defined as at least three ASD cases spread across at least two nuclear families); 6 families recruited in Canada, 13 families recruited in the United States
19
Diagnosis of ASD made using combination of ADI-R, ADOS, and clinical judgment in conjunction with DSM-IV criteria.
N/A
N/A
105868
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
41041
1
1
2
Controls
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
bucan_09_ASD_discovery_controls
1070 healthy children (CHOP), 418 neurologically normal adults and seniors (NINDS control collection)
1488
Controls
34235
0
0
0
bucan_09_ASD_replication_controls
Children of Caucasian ancestry with no history of ASDs (CHOP)
1051
Controls
34235
0
0
0
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
362775
5
2
7
girirajan_13b_ASD_discovery_controls
Controls ascertained from the Childhood Autism Risks from Genetics and Environment (CHARGE) study conducted through the Medical Investigation of Neurodevelopmental Disorders (MIND) Institute at UC-Davis after passing QC criteria (242 initial controls)
223
Control
N/A
N/A
336927
1
0
1
itsara_10_ASD_discovery_controls_1
Unaffected siblings of ASD probands from multiplex (n=368) and simplex (n=59) families from AGRE collection
427
Controls: Unaffected or Not Met
18531
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
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
52390
1
0
1
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
119035
0
1
1
krumm_15_ASD_discovery_controls
Unaffected siblings from quad families from the Simons Simplex Collection
1786
Control
N/A
N/A
108113
1
1
2
larson_17_ASD_discovery_controls
Entries listed in the Database of Genomic Variants (up to October 2017)
N/A
Control
N/A
N/A
116753
0
1
1
leblond_19_ASD_discovery_controls
Control cohort consisting of 136 unaffected relatives of ASD cases and 185 non-autism controls
321
Control
N/A
N/A
119270
0
1
1
levy_11_ASD_discovery_controls
Unaffected siblings of autistic probands from 887 families from the Simons Simplex Collection (SSC)
863
Control
47.97% Male
135986
0
1
1
nguyen_13_DD/ID/MCA/ASD_discovery_controls
Control data from the Database of Genomic Variants (DGV, n=12,145) and a published dataset of 8,329 individuals from Moriarty et al., 1998.
20474
Control
N/A
N/A
N/A
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)
695094
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.
135910
4
1
5
woodbury-smith_14_ASD_discovery_controls
Platform-matched controls from the KORA and COGEND datasets
2988
Control
N/A
N/A
0
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
41041
0
0
0
Cases
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
bogaert_23_DD/ID_discovery_cases
NA
aCGH
Agilent 44K, v.8.1 oligo microarray, Agilent 180K custom array
NA
NA
FISH
bucan_09_ASD_discovery_cases
Solid phase hybridization
HumanHap550 V3
Penn CNV
qPCR
bucan_09_ASD_replication_cases
European
Solid phase hybridization
HumanHap550 V3
Penn CNV
qPCR
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
cucinotta_23_ASD_discovery_cases
Italy
aCGH
Agilent SurePrint 4180K
ADM-2
Agilent Feature Extraction v.10.7., Agilent Cytogenomic Software v.4.0.3.12.
None
engchuan_15_ASD_discovery_cases
Caucasian
Solid phase hybridization
Illumina 1M
Yes
gai_11_ASD_discovery_cases
European
Solid phase hybridization
Illumina Infinium II HumanHap550 BeadChip
BeadStudio 3.0
None
itsara_10_ASD_discovery_cases
Solid phase hybridization
Illumina HumanHap550v1 and v3 SNP array
HMM
Illumina GenomeStudio
aCGH (custom NimbleGen 12 X 135)
kaminsky_11_DD/ID/ASD_discovery_cases
NA
aCGH
Agilent 44K, Agilent 105K
Feature Extraction, DNA Analytics
FISH, qPCR, MLPA, aCGH, standard G-banded chromosome analysis
kanduri_15_ASD_discovery_cases
Finnish
Solid phase hybridization
Illumina Human OmniExpress-12v1.0 BeadChip
QuantiSNP, PennCNV
Illumina BeadStudio
None
krumm_15_ASD_discovery_cases
N/A
WES
CoNIFER, XHMM
Solid phase hybridization (Illumina 1M, 1 M Duo, or Omni 2.5)
larson_17_ASD_discovery_cases
United Kingdom
Array SNP
Affymetrix CytoScan HD 2.8M, Affymetrix Cytogenetics
SNP-FASST2 Segmentation
Nexus Copy Number 7 (BioDiscovery), Affymetrix ChAS
None
morrow_08_ASD_discovery_cases
Arabic Middle East, Turkey, and Pakistan
Array SNP
Affymetrix 500K
BRLMM
dChip
nguyen_13_DD/ID/MCA/ASD_discovery_cases
N/A
aCGH
SignatureChip BACs aCGH, SignatureChip Oligo whole-genome microarray
N/A
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
woodbury-smith_14_ASD_discovery_cases
US and Canada
Solid phase hybridization
Illumina HumanOmni2.5 BeadChip
PennCNV, QuantiSNP, iPattern
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
bucan_09_ASD_discovery_controls
European
Solid phase hybridization
HumanHap550 V3
Penn CNV
bucan_09_ASD_replication_controls
European
Solid phase hybridization
HumanHap550 V3
Penn CNV
engchuan_15_ASD_discovery_controls
Caucasian
Solid phase hybridization
Illumina 1M
None
girirajan_13b_ASD_discovery_controls
116 European, 70 Hispanic, 27 Mixed Race, 7 Asian, 3 African-American
aCGH
Roche NimbleGen custom targeted hotspot array comprised of 135,000 probes with higher density probe coverage in genomic hotspots (regions flanked by segmental duplications)
DNA Copy Number v1.6
itsara_10_ASD_discovery_controls_1
Solid phase hybridization
Illumina HumanHap550v1 and v3 SNP array
HMM
Illumina GenomeStudio
aCGH (custom NimbleGen 12 X 135)
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_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
None
krumm_15_ASD_discovery_controls
N/A
WES
CoNIFER, XHMM
Solid phase hybridization (Illumina 1M, 1 M Duo, or Omni 2.5)
larson_17_ASD_discovery_controls
N/A
N/A
N/A
leblond_19_ASD_discovery_controls
Faroe Islands
Solid phase hybridization, WES
Illumina Infinium IlluminaOmni5-4 BeadChip, AgilentSureSelect Human All Exon V5
PennCNV, QuantiSNP
XHMM
None
levy_11_ASD_discovery_controls
aCGH
NimbleGen HD2
HMM
nguyen_13_DD/ID/MCA/ASD_discovery_controls
N/A
N/A
N/A
N/A
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
woodbury-smith_14_ASD_discovery_controls
Predominantly European
Solid phase hybridization
Illumina HumanOmni2.5 BeadChip
PennCNV, QuantiSNP, iPattern
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
bogaert_23_DD/ID_discovery_cases-caseI17
13 yrs. 6 mos.
F
Developmental delay, intellectual disability, and autistic features
Birth/neonatal history: pregnancy complications (increased nuchal translucency); neonatal complications (transient tachypnea of the newborn). Developmental milestones: developmental delay/intellectual disability, motor delay, speech delay, delayed ability to walk (24 months). Motor and musculoskeletal evaluation: genu valgum. Behavioral/psychiatric evaluation: behavioral disorders (autistic features). Additional medical history: vision problems (strabismus). Dysmorphic features: elongated face, low hairline, ptosis. Growth parameters: microcephaly (OFC -2.6 SD), failure to thrive.
Developmental delay/intellectual disability
57365001
58231702
866702
GRCh38
Deletion
Yes
bogaert_23_DD/ID_discovery_cases-caseI6
4 yrs.
NA
Developmental delay and intellectual disability
Birth/neonatal history: neonatal complications (feeding difficulties, icterus). Developmental milestones: developmental delay/intellectual disability, motor delay, speech delay (absent speech), delayed ability to walk (23 months). Motor and musculoskeletal evaluation: pectus deformity (pectus carinatum). Additional medical history: vision problems (astigmatism, hypermetropia), cardiac malformations (tricuspid valve leakage). Dysmorphic features: downslanting palpebral fissures, smooth philtrum, low-set ears, exaggerated cupid's bow, hirsutism, sacro-coccygeal dimple.
Developmental delay/intellectual disability
57729172
58463236
734065
GRCh38
Deletion
No
bucan_09_ASD_discovery_cases-patient67
NA
ASD
NA
NA
10102
Unknown
Deletion
Yes
bucan_09_ASD_discovery_cases-patient68
NA
ASD
NA
NA
10102
Unknown
Deletion
Yes
bucan_09_ASD_discovery_cases-patient69
NA
ASD
NA
NA
16897
Unknown
Deletion
Yes
bucan_09_ASD_discovery_cases-patient70
NA
ASD
NA
NA
18532
Unknown
Deletion
Yes
bucan_09_ASD_discovery_cases-patient71
NA
ASD
NA
NA
22806
Unknown
Deletion
Yes
bucan_09_ASD_discovery_cases-patient72
NA
ASD
NA
NA
34235
Unknown
Deletion
Yes
bucan_09_ASD_discovery_cases-patient73
NA
ASD
NA
NA
N/A
Unknown
Duplication
Yes
bucan_09_ASD_discovery_cases-patient74
NA
ASD
NA
NA
N/A
Unknown
Duplication
Yes
bucan_09_ASD_discovery_cases-patient75
NA
ASD
NA
NA
N/A
Unknown
Duplication
Yes
bucan_09_ASD_discovery_cases-patient76
NA
ASD
NA
NA
N/A
Unknown
Duplication
Yes
bucan_09_ASD_replication_cases-patient21
NA
ASD
NA
NA
29600
Unknown
Deletion
Yes
bucan_09_ASD_replication_cases-patient22
NA
ASD
NA
NA
28360
Unknown
Deletion
Yes
celestino-soper_11_ASD_discovery_cases-11189
NA
M
ASD
NA
NA
58322308
58322442
135
GRCh38
Duplication
No
cucinotta_23_ASD_discovery_cases-case19
NA
NA
ASD
Clinical diagnosis of ASD based on fulfilling DSM-5 criteria and confirmed using ADOS-2 and ADI-R.
58319828
58348593
28766
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case20159_4009001
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
58643391
58725097
81707
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case3098_3
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
54331163
54451871
120709
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case3118_3
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
54785960
54827165
41206
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case4214_1
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
54529701
54560550
30850
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case5295_4
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
52992309
53679506
687198
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case6275_3
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
52875273
53245307
370035
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case6381_3
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
52721305
52799036
77732
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case8463_202
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
57342333
57463615
121283
GRCh38
Deletion
Yes
engchuan_15_ASD_discovery_cases-case8531_201
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
52709259
52794742
85484
GRCh38
Deletion
No
gai_11_ASD_discovery_cases-AU0331301
Autism
52437059
52585995
148937
GRCh38
Deletion
No
gai_11_ASD_discovery_cases-AU0331302
Autism
52437059
52585995
148937
GRCh38
Deletion
No
itsara_10_ASD_discovery_cases-HI2592
NA
NA
Autism
NA
NA
58305692
58335292
29601
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00003987
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
52642955
53816677
1173723
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004674
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
56958745
58171125
1212381
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005393
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
53068629
53816677
748049
GRCh38
Deletion
Yes
kanduri_15_ASD_discovery_cases-case2003
N/A
N/A
ASD
Diagnosis of ASD based on DSM-IV, 4th edition, or ICD-10 criteria; patient screened based on Childhood Autism Rating Scale (CARS), Asperger Syndrome Screening Questionnaire, and/or Asperger's Syndrome Diagnostic Interview.
50951579
51313965
362387
Unknown
Deletion
No
krumm_15_ASD_discovery_cases-case11938.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Trio
57839782
57841052
1271
GRCh38
Duplication
Yes
larson_17_ASD_discovery_cases-case106
N/A
N/A
ASD and psychosis
No additional clinical information available. Patient carries CNV that is present in DGV (less than 1.5%) but was not present in 1124 ASD cases without psychosis from the Simons Simplex Collection.
58967976
59084729
116754
GRCh38
Duplication
No
morrow_08_ASD_discovery_cases-case1503
NA
ASD
NA
NA
51518000
51523000
4900
Unknown
Deletion
No
morrow_08_ASD_discovery_cases-case7001
NA
ASD
NA
NA
51518000
51523000
4900
Unknown
Deletion
No
nguyen_13_DD/ID/MCA/ASD_discovery_cases-patient215
N/A
N/A
DD/ID/MCA
N/A
N/A
N/A
N/A
N/A
GRCh37
Deletion
N/A
nguyen_13_DD/ID/MCA/ASD_discovery_cases-patient216
N/A
N/A
DD/ID/MCA
N/A
N/A
N/A
N/A
N/A
GRCh37
Deletion
N/A
nguyen_13_DD/ID/MCA/ASD_discovery_cases-patient217
N/A
N/A
DD/ID/MCA
N/A
N/A
N/A
N/A
N/A
GRCh37
Duplication
N/A
nguyen_13_DD/ID/MCA/ASD_discovery_cases-patient218
N/A
N/A
DD/ID/MCA
N/A
N/A
N/A
N/A
N/A
GRCh37
Duplication
N/A
nguyen_13_DD/ID/MCA/ASD_discovery_cases-patient219
N/A
N/A
DD/ID/MCA
N/A
N/A
N/A
N/A
N/A
GRCh37
Duplication
N/A
nguyen_13_DD/ID/MCA/ASD_discovery_cases-patient220
N/A
N/A
DD/ID/MCA
N/A
N/A
N/A
N/A
N/A
GRCh37
Duplication
N/A
nguyen_13_DD/ID/MCA/ASD_discovery_cases-patient221
N/A
N/A
DD/ID/MCA
N/A
N/A
N/A
N/A
N/A
GRCh37
Duplication
N/A
nguyen_13_DD/ID/MCA/ASD_discovery_cases-patient222
N/A
N/A
DD/ID/MCA
N/A
N/A
N/A
N/A
N/A
GRCh37
Duplication
N/A
nguyen_13_DD/ID/MCA/ASD_discovery_cases-patient223
N/A
N/A
DD/ID/MCA
N/A
N/A
N/A
N/A
N/A
GRCh37
Duplication
N/A
nguyen_13_DD/ID/MCA/ASD_discovery_cases-patient224
N/A
N/A
DD/ID/MCA
N/A
N/A
N/A
N/A
N/A
GRCh37
Duplication
N/A
nguyen_13_DD/ID/MCA/ASD_discovery_cases-patient225
N/A
N/A
DD/ID/MCA
N/A
N/A
N/A
N/A
N/A
GRCh37
Duplication
N/A
nguyen_13_DD/ID/MCA/ASD_discovery_cases-patient226
N/A
N/A
DD/ID/MCA
N/A
N/A
N/A
N/A
N/A
GRCh37
Duplication
N/A
pinto_10_ASD_discovery_cases-case5295_4
NA
M
ASD
NA
NA
52992309
53679506
687198
GRCh38
Duplication
Yes
pinto_14_ASD_discovery_cases2-case8463_202
8 yrs. 7 mos.
M
ASD
Autism (ADI-R and ADOS positive), no language delay (first words 15 mo, first phrases 18 mo), verbal. Family history: N/A.
WISC-III at 8 y 7 mo: VIQ 97, PIQ 78, FSIQ 86.
57342333
57455327
112995
GRCh38
Deletion
Yes
poultney_13_ASD_discovery_cases-case05HI4721A
N/A
M
ASD
ASD case from AGRE (AGRE ID AU1597301; NDAR ID NDAR_INVJB540NED)
58422358
58529176
106819
GRCh38
Duplication
No
prasad_12_ASD_discovery_cases-case52217
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
48419240
49114333
695094
Unknown
Duplication
No
sanders_11_ASD_discovery_cases-11159.p1
12.9
M
Autism
NA
Full-scale IQ, 118; non-verbal IQ, 109; verbal IQ, 130
59032239
59040760
8522
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11544.p1
15.5
M
Autism
NA
Full-scale IQ, 115; non-verbal IQ, 112; verbal IQ, 113
52582492
52585995
3504
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11592.p1
10.1
M
Autism
NA
Full-scale IQ, 115; non-verbal IQ, 109; verbal IQ, 122
58905813
58912738
6926
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11788.p1
8.8
M
Autism
NA
Full-scale IQ, 84; non-verbal IQ, 92; verbal IQ, 75
53622849
53688101
65253
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11938.p1
4.5
M
Autism
NA
Full-scale IQ, 88; non-verbal IQ, 95; verbal IQ, 82
57836665
57845728
9064
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11996.p1
10
M
Autism
NA
Full-scale IQ, 77; non-verbal IQ, 85; verbal IQ, 54
52339220
52349565
10346
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11999.p1
5.8
F
Autism
NA
Full-scale IQ, 58; non-verbal IQ, 55; verbal IQ, 75
52550896
52590702
39807
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12115.p1
12.1
M
Autism
NA
Full-scale IQ, 102; non-verbal IQ, 107; verbal IQ, 94
59032966
59040760
7795
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12888.p1
5.5
M
Autism
NA
Full-scale IQ, 30; non-verbal IQ, 42; verbal IQ, 19
58579263
58603151
23889
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-13089.p1
8.4
M
Autism
NA
Full-scale IQ, 77; non-verbal IQ, 88; verbal IQ, 48
52488993
52776415
287423
GRCh38
Deletion
No
woodbury-smith_14_ASD_discovery_cases-case5
N/A
M
ASD
Family history: broad autism phenotype (BAP)-defined father; CNV found in 1 additional ASD case, 1 case with broad autism phenotype (BAP) (proband's father), and 1 non-ASD case.
58909781
59015648
105868
GRCh38
Duplication
No
yin_16_ASD_discovery_cases-case520
N/A
N/A
ASD
Cases diagnosed with autistic disorder according to DSM-IV and confirmed by using the Chinese version of ADI-R.
52954868
52990487
35620
GRCh38
Deletion
No
yin_16_ASD_discovery_cases-case521
N/A
N/A
ASD
Cases diagnosed with autistic disorder according to DSM-IV and confirmed by using the Chinese version of ADI-R.
56555128
56596168
41041
GRCh38
Duplication
No
Controls
Patient ID
Author, Year
Age
Gender
Primary Diagnosis
Clinical Profile
Cognitive Profile
CNV Start
CNV End
CNV Size
Genome Build
Type Method
Validation
engchuan_15_ASD_discovery_controls-control110036024685_
N/A
N/A
Control
No previous psychiatric history
52437059
52585995
148937
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlB270620_0067942650
N/A
N/A
Control
No previous psychiatric history
57023561
57057164
33604
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlB926850_1007876051
N/A
N/A
Control
No previous psychiatric history
54755970
54827165
71196
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlHABC_900268_900268
N/A
N/A
Control
No previous psychiatric history
52874219
53236993
362775
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlHABC_900578_900578
N/A
N/A
Control
No previous psychiatric history
59092424
59443847
351424
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlHABC_901098_901098
N/A
N/A
Control
No previous psychiatric history
59152355
59271469
119115
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlHABC_901108_901108
N/A
N/A
Control
No previous psychiatric history
58582918
58631808
48891
GRCh38
Deletion
No
girirajan_13b_ASD_discovery_controls-59905104552
N/A
N/A
Control
Ethnicity: Caucasian
N/A
52880512
53217438
336927
GRCh38
Deletion
No
itsara_10_ASD_discovery_controls_1-HI3609
NA
NA
Unaffected
NA
NA
58305692
58324223
18532
GRCh38
Deletion
Yes
kanduri_15_ASD_discovery_controls-control_split415
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
55813869
55866258
52390
Unknown
Deletion
No
krumm_13_ASD_discovery_controls-control11479.s1
N/A
F
Control
Unaffected sibling from SSC quad family 11479. SRS score of 46.
59234491
59353526
119036
GRCh38
Duplication
No (not tested)
krumm_15_ASD_discovery_controls-control11479.s1
N/A
Female
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
59245413
59353526
108114
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_controls-control12919.s1
N/A
Male
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
56960774
57006235
45462
GRCh38
Deletion
Yes
leblond_19_ASD_discovery_controls-controlPN400490
N/A
F
Control
Non-autism control
58972090
59091358
119269
GRCh38
Duplication
No
levy_11_ASD_discovery_controls-11479.s1
NA
F
Control
NA
NA
59233714
59369699
135986
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11479.s1
4.2
F
Control (matched sibling)
NA
NA
59231838
59367748
135911
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11788.s1
11.5
M
Control (matched sibling)
NA
NA
53622849
53697558
74710
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11999.s1
4.3
F
Control (matched sibling)
NA
NA
52550896
52602906
52011
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12115.s1
8.5
M
Control (matched sibling)
NA
NA
59032966
59040760
7795
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12240.s1
6.7
F
Control (matched sibling)
NA
NA
53232116
53236993
4878
GRCh38
Deletion
No
Cases
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
bogaert_23_DD/ID_discovery_cases-caseI17
FISH
De novo
Simplex
OR4D1,MRPS23,MSX2P1,MKS1,MSI2,OR4D2,DYNLL2,CUEDC1,LPO,CCDC182,DYNLL2-DT,SRSF1,RN7SKP94,RNU7-134P,RN7SL449P,EPX,VEZF1
bogaert_23_DD/ID_discovery_cases-caseI6
De novo
Simplex
OR4D1,MRPS23,MSX2P1,MKS1,RNF43,HSF5,OR4D2,DYNLL2,CUEDC1,MIR142,MPO,LPO,MIR4736,TSPOAP1-AS1,CCDC182,DYNLL2-DT,SRSF1,SUPT4H1,RN7SKP94,EPX,VEZF1,TSPOAP1
bucan_09_ASD_discovery_cases-patient67
qPCR
Unknown
NA
NA
BZRAP1
bucan_09_ASD_discovery_cases-patient68
qPCR
Unknown
NA
NA
BZRAP1
bucan_09_ASD_discovery_cases-patient69
qPCR
Unknown
NA
NA
BZRAP1
bucan_09_ASD_discovery_cases-patient70
qPCR
Unknown
NA
NA
BZRAP1
bucan_09_ASD_discovery_cases-patient71
qPCR
Unknown
NA
NA
BZRAP1
bucan_09_ASD_discovery_cases-patient72
qPCR
Unknown
NA
NA
BZRAP1
bucan_09_ASD_discovery_cases-patient73
qPCR
Unknown
NA
NA
BZRAP1
bucan_09_ASD_discovery_cases-patient74
qPCR
Unknown
NA
NA
BZRAP1
bucan_09_ASD_discovery_cases-patient75
qPCR
Unknown
NA
NA
BZRAP1
bucan_09_ASD_discovery_cases-patient76
qPCR
Unknown
NA
NA
BZRAP1
bucan_09_ASD_replication_cases-patient21
qPCR
Unknown
NA
NA
BZRAP1
bucan_09_ASD_replication_cases-patient22
qPCR
Unknown
NA
NA
BZRAP1
celestino-soper_11_ASD_discovery_cases-11189
Unknown
Simplex
NA
TSPOAP1
cucinotta_23_ASD_discovery_cases-case19
Paternal
MIR142,MIR4736,TSPOAP1-AS1,SUPT4H1,TSPOAP1
engchuan_15_ASD_discovery_cases-case20159_4009001
Unknown
RNU1-108P,RNU1-52P,RNU1-85P,TEX14,RAD51C
engchuan_15_ASD_discovery_cases-case3098_3
Unknown
engchuan_15_ASD_discovery_cases-case3118_3
Unknown
engchuan_15_ASD_discovery_cases-case4214_1
Unknown
engchuan_15_ASD_discovery_cases-case5295_4
Unknown
MTCO1P40
engchuan_15_ASD_discovery_cases-case6275_3
Unknown
MTCO1P40,LINC02089,C17orf112
engchuan_15_ASD_discovery_cases-case6381_3
Unknown
engchuan_15_ASD_discovery_cases-case8463_202
De novo
MSI2
engchuan_15_ASD_discovery_cases-case8531_201
Unknown
gai_11_ASD_discovery_cases-AU0331301
Inherited
LINC01982
gai_11_ASD_discovery_cases-AU0331302
Inherited
LINC01982
itsara_10_ASD_discovery_cases-HI2592
aCGH (custom NimbleGen 12 X 135)
De novo
Multiplex
MIR142,TSPOAP1,TSPOAP1-AS1
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00003987
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
MTCO1P40,RPS2P48,LINC02089,C17orf112
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004674
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
De novo
Unknown
Unknown
RNF126P1,RN7SL449P,RNU7-134P,CCDC182,RN7SKP94,SRSF1,DYNLL2,OR4D1,MSX2P1,OR4D2,COIL,SCPEP1,AKAP1,MRPS23,VEZF1,CUEDC1,MSI2
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005393
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
MTCO1P40,RPS2P48
kanduri_15_ASD_discovery_cases-case2003
Maternal
Unknown
Unknown
C17orf112
krumm_15_ASD_discovery_cases-case11938.p1
Illumina 1MDuo
Maternal
Simplex
Segregated
MRPS23
larson_17_ASD_discovery_cases-case106
Unknown
Unknown
RN7SL716P,TRIM37,PPM1E
morrow_08_ASD_discovery_cases-case1503
Unknown
NA
NA
5' end of ANKFN1
morrow_08_ASD_discovery_cases-case7001
Unknown
NA
NA
5' end of ANKFN1
nguyen_13_DD/ID/MCA/ASD_discovery_cases-patient215
Unknown
Unknown
Unknown
Minimum CNV gene content: SMG8
nguyen_13_DD/ID/MCA/ASD_discovery_cases-patient216
Unknown
Unknown
Unknown
Minimum CNV gene content: SMG8
nguyen_13_DD/ID/MCA/ASD_discovery_cases-patient217
Unknown
Unknown
Unknown
Minimum CNV gene content: SMG8
nguyen_13_DD/ID/MCA/ASD_discovery_cases-patient218
Unknown
Unknown
Unknown
Minimum CNV gene content: SMG8
nguyen_13_DD/ID/MCA/ASD_discovery_cases-patient219
Unknown
Unknown
Unknown
Minimum CNV gene content: SMG8
nguyen_13_DD/ID/MCA/ASD_discovery_cases-patient220
Unknown
Unknown
Unknown
Minimum CNV gene content: SMG8
nguyen_13_DD/ID/MCA/ASD_discovery_cases-patient221
Unknown
Unknown
Unknown
Minimum CNV gene content: SMG8
nguyen_13_DD/ID/MCA/ASD_discovery_cases-patient222
Unknown
Unknown
Unknown
Minimum CNV gene content: SMG8
nguyen_13_DD/ID/MCA/ASD_discovery_cases-patient223
Unknown
Unknown
Unknown
Minimum CNV gene content: SMG8
nguyen_13_DD/ID/MCA/ASD_discovery_cases-patient224
Unknown
Unknown
Unknown
Minimum CNV gene content: SMG8
nguyen_13_DD/ID/MCA/ASD_discovery_cases-patient225
Unknown
Unknown
Unknown
Minimum CNV gene content: SMG8
nguyen_13_DD/ID/MCA/ASD_discovery_cases-patient226
Unknown
Unknown
Unknown
Minimum CNV gene content: SMG8
pinto_10_ASD_discovery_cases-case5295_4
Agilent1M
paternal
NA
NA
MTCO1P40
pinto_14_ASD_discovery_cases2-case8463_202
qPCR
De novo
Multiplex
Not segregated (no CNV in sibling with PDD)
MSI2
poultney_13_ASD_discovery_cases-case05HI4721A
Unknown
Unknown (likely multiplex/AGRE)
Unknown
SETP3,MTMR4,SEPT4-AS1,SEPT4,HSF5
prasad_12_ASD_discovery_cases-case52217
Unknown
Unknown
Unknown
0 genes
sanders_11_ASD_discovery_cases-11159.p1
Paternal
Simplex (quad-proband matched)
Segregated
TRIM37
sanders_11_ASD_discovery_cases-11544.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11592.p1
Paternal
Simplex (quad-proband matched)
Not segregated
PPM1E
sanders_11_ASD_discovery_cases-11788.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11938.p1
Maternal
Simplex (trio)
NA
MRPS23
sanders_11_ASD_discovery_cases-11996.p1
Paternal
Simplex (trio)
NA
sanders_11_ASD_discovery_cases-11999.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12115.p1
Paternal
Simplex (quad-proband matched)
Not segregated
TRIM37
sanders_11_ASD_discovery_cases-12888.p1
Both parents
Simplex (quad-proband matched)
Segregated
TEX14
sanders_11_ASD_discovery_cases-13089.p1
Maternal
Simplex (quad-proband matched)
Not segregated
LINC01982
woodbury-smith_14_ASD_discovery_cases-case5
Paternal
Possible multi-generational (CNV transmitted from BAP-defined parent to ASD diagnosed offspring)
Unknown
TRIM37,PPM1E
yin_16_ASD_discovery_cases-case520
Unknown
Unknown
Unknown
C17orf112
yin_16_ASD_discovery_cases-case521
Unknown
Unknown
Unknown
RPL39P33,NOG
Controls
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
engchuan_15_ASD_discovery_controls-control110036024685_
Unknown
LINC01982
engchuan_15_ASD_discovery_controls-controlB270620_0067942650
Unknown
RNF126P1
engchuan_15_ASD_discovery_controls-controlB926850_1007876051
Unknown
RN7SKP14
engchuan_15_ASD_discovery_controls-controlHABC_900268_900268
Unknown
MTCO1P40,LINC02089,C17orf112
engchuan_15_ASD_discovery_controls-controlHABC_900578_900578
Unknown
RNU2-58P,MIR454,MIR301A,SNRPGP17,MIR4729,TRIM37,PRR11,SPDYE22P,SMG8,SKA2,GDPD1,YPEL2,LINC01476
engchuan_15_ASD_discovery_controls-controlHABC_901098_901098
Unknown
PRR11,SPDYE22P,SMG8,SKA2,GDPD1
engchuan_15_ASD_discovery_controls-controlHABC_901108_901108
Unknown
TEX14
girirajan_13b_ASD_discovery_controls-59905104552
Unknown
MTCO1P40,LINC02089,C17orf112
itsara_10_ASD_discovery_controls_1-HI3609
aCGH (custom NimbleGen 12 X 135)
De novo
Multiplex
TSPOAP1
kanduri_15_ASD_discovery_controls-control_split415
Unknown
CCDC182
krumm_13_ASD_discovery_controls-control11479.s1
Maternal
Simplex
SNRPGP17,GDPD1,YPEL2
krumm_15_ASD_discovery_controls-control11479.s1
Illumina 1M
Maternal
SNRPGP17,GDPD1,YPEL2
krumm_15_ASD_discovery_controls-control12919.s1
Omni2.5-4v1
Maternal
COIL,SCPEP1
leblond_19_ASD_discovery_controls-controlPN400490
Unknown
RN7SL716P,TRIM37,PPM1E
levy_11_ASD_discovery_controls-11479.s1
Maternal
Simplex
NA
SNRPGP17,MIR4729,GDPD1,YPEL2
sanders_11_ASD_discovery_controls-11479.s1
Maternal
Simplex (quad)
NA
SNRPGP17,MIR4729,GDPD1,YPEL2
sanders_11_ASD_discovery_controls-11788.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11999.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12115.s1
Paternal
Simplex (quad)
NA
TRIM37
sanders_11_ASD_discovery_controls-12240.s1
Maternal
Simplex (quad)
NA
No Animal Model Data Available