13q12.12CNV Type: Deletion-Duplication
Largest CNV size: 1190200 bp
Statistics Box:
Number of Reports: 24
Number of Reports: 24
Summary Information
Summary statement in development
Additional Locus Information
References
Major Reports
Title
Author, Year
Report Class
CNV Type
Mapping autism risk loci using genetic linkage and chromosomal rearrangements.
Duplication
Functional impact of global rare copy number variation in autism spectrum disorders.
Duplication
Copy number variations associated with autism spectrum disorders contribute to a spectrum of neurodevelopmental disorders.
Deletion
An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabili...
Deletion-Duplication
Evaluation of copy number variations reveals novel candidate genes in autism spectrum disorder-associated pathways.
Deletion
Phenotypic heterogeneity of genomic disorders and rare copy-number variants.
Deletion
Chromosomal microarray analysis of consecutive individuals with autism spectrum disorders or learning disability presenting for genetic services.
Deletion
Convergence of genes and cellular pathways dysregulated in autism spectrum disorders.
Deletion-Duplication
Genome sequencing identifies multiple deleterious variants in autism patients with more severe phenotypes.
Deletion-Duplication
Minor Reports
Title
Author, Year
Report Class
CNV Type
Rare structural variation of synapse and neurotransmission genes in autism.
Duplication
Multiple recurrent de novo CNVs, including duplications of the 7q11.23 Williams syndrome region, are strongly associated with autism.
Deletion-Duplication
Relative burden of large CNVs on a range of neurodevelopmental phenotypes.
Duplication
Refinement and discovery of new hotspots of copy-number variation associated with autism spectrum disorder.
Deletion
Identification of rare copy number variants in high burden schizophrenia families.
Deletion
Male-biased autosomal effect of 16p13.11 copy number variation in neurodevelopmental disorders.
Deletion
Identification of small exonic CNV from whole-exome sequence data and application to autism spectrum disorder.
Duplication
Both rare and de novo copy number variants are prevalent in agenesis of the corpus callosum but not in cerebellar hypoplasia or polymicrogyria.
Duplication
Performance of case-control rare copy number variation annotation in classification of autism.
Deletion-Duplication
The landscape of copy number variations in Finnish families with autism spectrum disorders.
Duplication
Genome-wide analysis of copy number variations identifies PARK2 as a candidate gene for autism spectrum disorder.
Deletion
Rare Inherited and De Novo CNVs Reveal Complex Contributions to ASD Risk in Multiplex Families.
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
chaves_19_ASD/DD/ID_discovery_cases
Patients from the south of Brazil with neurodevelopmental disorders
420
Developmental delay/intellectual disability present in 80% of cases, ASD in 32%
Range, 0-49 years (mean 9.5 9.73 years)
61.90% Male
262408
1
0
1
dabell_13_ASD/DD/ID_discovery_cases
Prenatal and postnatal patients tested between Feb. 2008 and June 2012 by Signature Genomics Laboratories using aCGH platforms providing coverage over NRXN1
30065
Most common indications for study: intellectual disability (ID), developmental delay (DD), and/or multiple congenital anomalies
N/A
N/A
1344122
1
0
1
engchuan_15_ASD_discovery_cases
Samples from the Autism Genome Project (AGP)
1892
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
N/A
85.78% Male
1421323
3
7
10
gai_11_ASD_replication_cases
Replication case samples derived from AGRE sets 1-3
593
Idiopathic autism; cases designated as 'spectrum' and 'not quite autism' excluded, as were cases with known genetic syndromes or other non-idiopathic causes
80918
0
1
1
girirajan_11_ASD_discovery_cases
ASD cases with sporadic autism from the Simons Simplex Collection (SSC)
336
Diagnosis of ASD based on meeting criteria on ADOS, ADI-R, and expert clinical judgment. 246 cases with no intellectual disability, 90 cases with intellectual disability. Exclusion criteria: significant hearing, vision, or motor problems; significant birth complications; a diagnosis of ASD-related disorders, such as Fragile X; or having a relative (up to 3rd degree) with ASD or sibling showing ASD-related symptoms.
70424
0
1
1
girirajan_12_ASD/DD/ID_discovery_cases
Samples from affected children submitted to Signature Genomic Laboratories from 2008-2010.
32587
Developmental delay with or without congenital malformations
1324741
1
0
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
1427000
1
0
1
griswold_12_ASD_discovery_cases
Unrelated ASD cases from the Collaborative Autism Project (CAP) ascertained through clinical groups at the University of Miami (HIHG), the University of South Carolina, and Vanderbilt University. 260 cases from multiplex families, 483 from simplex families, 62 from families with siblings having autistic-like traits without a confirmed ASD diagnosis, and 8 from families with monozygotic twins.
813
Daignosis of ASD/autism. Inclusion criteria: (1) age between 3-21 years, (2) presumptive clinical diagnosis of autism, (3) expert clinical determination of autism diagnosis using DSM-IV criteria supported by ADI-R in the majority of cases and all available clinical information, (4) minimal developmental level of 18 months as determined by VABS or VABS-II or IQ equivalent >35. Exclusion criteria: severe sensory problems, significant motor impairments, or previously identified metabolic, genetic, or progressive neurological disorder.
Range, 3-21 yrs.
NA
1416887
1
0
1
guo_18_ASD/DD/ID_discovery_cases
Patients from 180 families (153 simplex, 27 multiplex) with at least one proband diagnosed with ASD who had been been clinically evaluated at the Seattle Children's Autism Center from SAGE collection
213
Patients were ascertained based on the presence of a diagnosis of ASD, intellectual disability (ID) or developmental delay (DD). ASD diagnoses were confirmed by meeting cutoff criteria on the Autism Diagnostic Observation Schedule and DSM-5 criteria; cognitive abilities were assessed using age-appropriate cognitive batteries, including DAS-2, Wechsler tests (WPPSI-IV, WISC-V, WASI-2), and Mullen.
N/A
N/A
1421599
2
1
3
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
1586388
4
3
7
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
11809
0
1
1
krumm_15_ASD_discovery_cases
Probands from the Simons Simplex Collection
2377
Diagnosis of ASD
N/A
N/A
75786
0
1
1
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
1354871
1
0
1
leppa_16_ASD_discovery_cases
Children affected with ASD from 1,464 families from the Autism Genetic Resource Exchange (AGRE)
1764
Diagnosis according to ADOS and ADI-R
N/A
N/A
1400000
0
1
1
pinto_10_ASD_discovery_cases
Autism Genome Project (AGP) consortium patient cohort from families with at least two ASD individuals
996
ASD (ADI-R and ADOS): strict, broad, or spectrum ASD
87232
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
1416888
1
1
2
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)
12869
0
1
1
roberts_13_ASD/DD/ID_discovery_cases
Consecutive patients referred with either ASD or learning disability for genetic services at the University of Kansas Medical Center from 2009-2012
215
ASD (n=65) or learning disability (LD; n=150); learning disability defined as developmental delay (infants & children) and/or intellectual disability (older children & adults)
Mean, 10 9.7 yrs.; Range 5 mos.-52 yrs.
65.12% Male
1400000
1
0
1
rosenfeld_10_ASD_discovery_cases
Samples submitted between 3/2004 and 7/2008 that had ASD as indication for study (Signature Genomic Labs, Spokane, WA)
1461
ASD
332266
1
0
1
sajan_13_ACC/CBLH/PMG_discovery_cases
Individuals with severe congenital brain malformations [agenesis of the corpus callosum (ACC), cerebellar hypoplasia (CBLH), and/or polymicrogyria (PMG)] and additional neurodevelopmental phenotypes
487
Diagnosis of agenesis of the corpus callosum (ACC), cerebellar hypoplasia (CBLH), and/or polymicrogyria (PMG); additional diagnoses of autism spectrum disorder (ASD), developmental delay (DD), intellectual disability (ID) and/or seizures in some patients
N/A
N/A
126581
0
2
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
149988
3
10
13
szatmari_07_ASD_discovery_cases
ASD patients from 173 families with at least two affected individuals from AGP
196
Patients diagnosed with ASD based on ADI-R and ADOS
1190200
0
2
2
tropeano_13_DD/ASD_discovery_cases
Patients referred to Guy's and St. Thomas NHS Foundation Trust from region pediatricians and other health specialists, as well as from genetics centers (UK).
10397
Range of diagnoses including developmental delay (DD), intellectual disability, ASD (~1400 patients), ADHD, specific developmental delays such as speech or language delay, or multiple congenital anomalies/birth defects.
N/A
63.4% Male
1323181
1
0
1
yin_16_ASD_discovery_cases
Discovery cohort of ASD cases recruited from the Department of Psychiatry of National Taiwan University Hospital (NTUH), Chang Gung Memorial Hospital (CGMH), Taoyuan, and Taoyuan Mental Hospital (TMH), Taiwan.
335
Cases diagnosed with autistic disorder according to DSM-IV and confirmed by using the Chinese version of ADI-R. Cases' autistic behaviors assessed by Social Responsiveness Scale (SRS), and cognitive functions assessed by the Weschler Intelligence Scale for Children-Third Edition (WISC-III) and the Wisconsin Card Sorting Test (WCST).
Mean, 9.39 4.04 yrs.
89.3% Male
60820
2
0
2
Controls
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
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
809018
1
10
11
girirajan_11_ASD_discovery_controls
Control individuals ascertained by NIMH Genetics Initiative. DNA samples from these individuals were obtained from the Rutgers Univ. Cell & DNA Repository.
337
Control. Individuals screened specifically for eight mental health disorders.
103723
0
2
2
girirajan_12_ASD/DD/ID_discovery_controls
Persons found to have no overt neurological disorders during screening for other studies
8329
Control
1324741
NA
NA
NA
griswold_12_ASD_discovery_controls
Children recruited as pediatric controls from HIHG (Miami, FL) and preterm birth study at Centennial Medical Center (Nashville, TN)
592
Control
Range, preterm-21 yrs.
NA
1416887
0
0
0
kaminsky_11_DD/ID/ASD_discovery_controls
Controls from the International Standards for Cytogenomic Arrays (ISCA) consortium
10118
Controls
NA
NA
NA
NA
NA
NA
kanduri_15_ASD_discovery_controls
Unrelated Finnish samples from the cohort of Health 2000 survey from an initial sample of 288 individuals following quality control
269
Controls screened for DSM-IV mental disorders using the Composite International Diagnostic Interview and psychotic disorders using the research version of the Structured Clinical Interview for DSM-IV
N/A
N/A
0
0
0
0
krumm_13_ASD_discovery_controls
Unaffected siblings of ASD probands from quad families ascertained as part of the Simons Simplex Collection (SSC); CNVs detected using data from four previously published exome sequencing studies (O'Roak et al., 2011; Iossifov et al., 2012; O'Roak et al., 2012; Sanders et al., 2012)
411
Control (unaffected siblings of ASD probands). Social Responsiveness Scale (SRS) used as a quantitative measure of social deficits
N/A
46.47% Male
9588
0
1
1
krumm_15_ASD_discovery_controls
Unaffected siblings from quad families from the Simons Simplex Collection
1786
Control
N/A
N/A
12865
0
1
1
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
63020
0
1
1
poultney_13_ASD_discovery_controls
Controls matched for European ancestry from NIMH and CEPH retained after filtering (original cohort size of 379 controls)
260
Control
N/A
47.49% Male (before filtering)
1118077
0
2
2
sanders_11_ASD_discovery_controls
Matched siblings of autistic probands from the Simons Simplex Collection (SSC).
872
Controls
Mean, 10.0 yrs.
152934
2
6
8
tropeano_13_DD/ASD_discovery_controls
Controls comprehensively screened for a lifetime absence of psychiatric disorder (n=459) and from the Wellcome Trust Case-Control Consortium Phase II (WTCCC2; n=5,619), as well as control data from two previously published studies by Shaikh et al. (n=2026) and Cooper et al. (n=3173)
11277
Control
N/A
N/A
N/A
N/A
N/A
N/A
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
60820
0
0
0
Cases
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
chaves_19_ASD/DD/ID_discovery_cases
Brazil
Array SNP
Affymetrix CytoScan 750K, Affymetrix CytoScan HD
Affymetrix ChAS
None
dabell_13_ASD/DD/ID_discovery_cases
N/A
aCGH
Signature Genomics SignatureChip OS v1.0 (105K), v2.0 (135K), or v3.0 (135K) (manufactured by Agilent) or BACs aCGH
None
engchuan_15_ASD_discovery_cases
Caucasian
Solid phase hybridization
Illumina 1M
None
gai_11_ASD_replication_cases
European
Solid phase hybridization
Illumina Infinium II HumanHap550 BeadChip
BeadStudio 3.0
None
girirajan_11_ASD_discovery_cases
aCGH
Custom microarray targeting 107 genomic hotspot regions (Roche NimbleGen Hotspot v1.0 array; 12 x 135K)
HMM
None
girirajan_12_ASD/DD/ID_discovery_cases
aCGH
BACs aCGH, SignatureChipOS
FISH, aCGH, or confirmation by inheritance
girirajan_13a_ASD_discovery_cases
NA
aCGH
Custom microarray with a high density of probes targeted to 1,367 regions with a susceptible genomic architecture
ADM-2
Agilent Genomic Workbench
None
griswold_12_ASD_discovery_cases
Range of self-reported ethnicities (specifics NA)
Solid phase hybridization
Illumina Human 1M-v1_C BeadChip, Illumina 1M-DuoV3 BeadChip
Penn CNV, QuantiSNP
BeadStudio
qPCR
guo_18_ASD/DD/ID_discovery_cases
N/A
WGS
Illumina HiSeq X Ten
dCGH, Genome STRiP, LUMPY, WHAMG, CNVnator, DELLY
aCGH, Sanger sequencing
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)
kushima_18_SCZ_discovery_cases
Japanese
aCGH
NimbleGen 720K, Agilent 400K
FASST2
Nexus Copy Number v.9.0
N/A
leppa_16_ASD_discovery_cases
N/A
Solid phase hybridization
Illumina 550v1 and 550v3, Omni-1.0-B and -H, Omni 2.5
PennCNV, QuantiSNP, GNOSIS
GenomeStudio, CNVision
None
pinto_10_ASD_discovery_cases
European
Solid phase hybridization
Illumina Infinium 1M SNP microarray
QuantiSNP, iPattern
qPCR, long-range PCR (LR-PCR), MLPA, FISH, aCGH (Agilent 1M), array SNP (Affymetrix 500K)
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
roberts_13_ASD/DD/ID_discovery_cases
N/A
aCGH
105K or 180K oligonucleotide microarray
Nexus Copy Number (BioDiscovery)
BACs aCGH or FISH
rosenfeld_10_ASD_discovery_cases
aCGH
BACs aCGH, whole-genome oligo-aCGH
FISH
sajan_13_ACC/CBLH/PMG_discovery_cases
81.31% Caucasian
Solid phase hybridization
Illumina InfiniumII HumanHap610
PennCNV
None (not tested or failure to confirm by qPCR)
sanders_11_ASD_discovery_cases
White non-Hispanic, 74.5%; mixed, 9.3%, Asian, 4.3%, White Hispanic, 4.0%, African-American, 3.8%; other, 4.2&
Solid phase hybridization
Illumina 1M v1, Illumina 1M v3
PennCNV, QuantiSNP, GNOSIS
szatmari_07_ASD_discovery_cases
Array SNP
Affymetrix 10K (v2)
HMM
dChip
Karyotyping, qPCR, aCGH, array SNP, overlap with Mendelian genotype errors
tropeano_13_DD/ASD_discovery_cases
70% Caucasian, 15% African, 15% other/mixed ancestry
aCGH
Agilent 60K
Feature Extraction, DNA Analytics
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
engchuan_15_ASD_discovery_controls
Caucasian
Solid phase hybridization
Illumina 1M
None
girirajan_11_ASD_discovery_controls
aCGH
Custom microarray targeting 107 genomic hotspot regions (Roche NimbleGen Hotspot v1.0 array; 12 x 135K)
HMM
None
girirajan_12_ASD/DD/ID_discovery_controls
aCGH
BACs ACGH (SignatureChipoWG) or oligoarray (SignatureChipOS)
griswold_12_ASD_discovery_controls
Caucasian
Solid phase hybridization
Illumina Human 1M-v1_C BeadChip, Illumina 1M-DuoV3 BeadChip
Penn CNV, QuantiSNP
BeadStudio
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)
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
poultney_13_ASD_discovery_controls
European
WES
Agilent SureSelect Human All Exon v.2
XHMM
None
sanders_11_ASD_discovery_controls
Solid phase hybridization
Illumina 1M v1 or Illumina 1M v3
PennCNV, QuantiSNP, GNOSIS
tropeano_13_DD/ASD_discovery_controls
77% Caucasian, 8.5% African, 14.5% other/mixed ancestry
Solid phase hybridization
Illumina HumanHap 610-Quad (screened controls); Illumina 1M (WTCCC2 controls); Illumina HumanHap 550 (Shaikh et al. data); Illumina HumanHap 500K, 650&, and 610-Quad (Cooper et al. data)
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
chaves_19_ASD/DD/ID_discovery_cases-case50
N/A
F
Intellectual disability
Mild intellectual disability
Mild intellectual disability
59851501
60113908
262408
GRCh38
Deletion
No
dabell_13_ASD/DD/ID_discovery_cases-patient25
9 yrs.
F
Multiple disabilities
Indication for study: multiple disabilities.
22992622
24336745
1344124
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case1045_3
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
24643343
24730574
87232
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case14164_2680
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
24606013
24748587
142575
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case1976_302
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
22848383
22909577
61195
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case20188_1727001
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
24695269
24756895
61627
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case21012_1
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
22932509
24353833
1421325
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case3438_3
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
24626459
24675922
49464
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case4022_1
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
23727804
23933543
205740
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case4374_1
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
22937442
24354330
1416889
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case5336_3
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
22775594
22925582
149989
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case5336_3
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
24357843
24436036
78194
GRCh38
Duplication
No
gai_11_ASD_replication_cases-AU012003
Autism
24108959
24189876
80918
Unknown
Duplication
No
girirajan_11_ASD_discovery_cases-Si163
8
M
Autism
ADOS score: 7. Vineland composite score: 63.
Moderate mental retardation/intellectual disability. Full-scale IQ, 46; Verbal IQ, 47; Non-verbal IQ, 49.
24606647
24677071
70425
GRCh38
Duplication
No
girirajan_12_ASD/DD/ID_discovery_cases-case61119
9.5 mos.
F
Developmental delay
Motor delay. Behavioral problems: NA. Normal tone. Dysmorphic features: brachycephaly, midface hypoplasia, downturned mouth, low-set ears, long and tapered fingers, abnormal thumb. Congenital anomalies: scoliosis, unilateral renal agenesis. Growth parameters: weight <3rd %ile, height 3rd-10th %ile, OFC 25th-50th %ile. Family history: not specific (adopted).
NA
22970530
24295272
1324743
GRCh38
Deletion
Yes
girirajan_13a_ASD_discovery_cases-14266.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
22957861
24387862
1430002
GRCh38
Deletion
No
griswold_12_ASD_discovery_cases-case18011
NA
NA
ASD/autism
NA
NA
22937442
24354330
1416889
GRCh38
Deletion
Yes
guo_18_ASD/DD/ID_discovery_cases-caseBK-272-03
N/A
F
ASD and intellectual disability
Intellectual disability (FSIQ 69, NVIQ 69, VIQ 79)
22968401
24364000
1395600
GRCh38
Deletion
Yes
guo_18_ASD/DD/ID_discovery_cases-caseBK-272-04
N/A
M
Intellectual disability
Language delay
Intellectual disability (NVIQ 82, VIQ 72)
22942401
24364000
1421600
GRCh38
Deletion
Yes
guo_18_ASD/DD/ID_discovery_cases-caseBK-413-04
N/A
M
ASD
FSIQ 87
22927861
24323282
1395422
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000916
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
23518725
24153706
634982
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002401
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
23172478
23671209
498732
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002409
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
24363400
24904246
540847
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002732
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
22992823
23499449
506627
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00003865
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
22904496
24490885
1586390
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004123
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
22992823
24316005
1323183
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005207
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
22980339
24363444
1383106
GRCh38
Duplication
Yes
kanduri_15_ASD_discovery_cases-case1966
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.
23345328
23357136
11809
Unknown
Duplication
No
krumm_15_ASD_discovery_cases-case13844.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Trio
23203694
23279480
75787
GRCh38
Duplication
Yes
kushima_18_SCZ_discovery_cases-caseSCZ1198
63 yrs.
F
Schizophrenia
Behavioral/psychiatric evaluation: onset of schizophrenia at 17 years of age (core symptoms include olfactory, somatic, and auditory hallucinations, delusions). Physical comorbidities: hypertension. Family history: negative.
IQ > 70
22968338
24323208
1354871
GRCh38
Deletion
N/A
leppa_16_ASD_discovery_cases-AU0965301
N/A
M
ASD
22954861
24382862
1428002
GRCh38
Duplication
No
pinto_10_ASD_discovery_cases-case1045_3
NA
M
ASD
NA
NA
24643343
24730574
87232
GRCh38
Duplication
Yes
pinto_14_ASD_discovery_cases2-case4374_1
N/A
M
ASD
Clinical profile: N/A.
Cognitive profile: N/A.
22937442
24354330
1416889
GRCh38
Deletion
Yes
pinto_14_ASD_discovery_cases2-case6233_4
N/A
M
ASD
Clinical profile: N/A.
Cognitive profile: N/A.
22973716
24388878
1415163
GRCh38
Duplication
Yes
poultney_13_ASD_discovery_cases-case04HI3375A
N/A
M
ASD
ASD case from AGRE (AGRE ID AU1334303; NDAR ID N/A)
24698656
24711524
12869
GRCh38
Duplication
No
roberts_13_ASD/DD/ID_discovery_cases-DD/IDcase14
9 yrs.
M
Learning disability (developmental delay/intellectual disability)
Microcephaly, cataract, dysmorphism
22913834
24345927
1432094
GRCh38
Deletion
Yes
rosenfeld_10_ASD_discovery_cases-case21622
NA
NA
ASD
NA
NA
23056087
23388353
332266
Unknown
Deletion
Yes
sajan_13_ACC/CBLH/PMG_discovery_cases-case1356-0
N/A
M
ACC
Diagnosis of agenesis of the corpus callosum (ACC). ASD: no. Seizures: yes. Neurological features: spastic diplegic cerebral palsy, hypotonia, hyporeflexia, diminished strength, unsteady gait, fine motor delay, gross motor delay, visual motor delay, deficits in expressive and receptive language skills, deficits in motor oral skills, dysarthria. Ocular and auditory problems: strabismus. Gastrointestinal problems: problems with swallowing, reflux, constipation. Brain imaging: complete ACC, normal pituitary gland, large ventricule size, present Probst bundles, decreased white matter volume, and normal myelination observed on brain MRI.
Developmental delay: yes. Intellectual disability: yes.
22782997
22909577
126581
GRCh38
Duplication
No
sajan_13_ACC/CBLH/PMG_discovery_cases-case1356-0
N/A
M
ACC
Diagnosis of agenesis of the corpus callosum (ACC). ASD: no. Seizures: yes. Neurological features: spastic diplegic cerebral palsy, hypotonia, hyporeflexia, diminished strength, unsteady gait, fine motor delay, gross motor delay, visual motor delay, deficits in expressive and receptive language skills, deficits in motor oral skills, dysarthria. Ocular and auditory problems: strabismus. Gastrointestinal problems: problems with swallowing, reflux, constipation. Brain imaging: complete ACC, normal pituitary gland, large ventricule size, present Probst bundles, decreased white matter volume, and normal myelination observed on brain MRI.
Developmental delay: yes. Intellectual disability: yes.
24357843
24446725
88883
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11134.p1
13.6
M
Autism
NA
Full-scale IQ, 117; non-verbal IQ, 115; verbal IQ 116
22853610
22867132
13523
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11233.p1
6.3
F
Autism
NA
Full-scale IQ, 57; non-verbal IQ, 60; verbal IQ, 65
22775594
22925582
149989
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11233.p1
6.3
F
Autism
NA
Full-scale IQ, 57; non-verbal IQ, 60; verbal IQ, 65
24357843
24436036
78194
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11270.p1
6
M
Autism
NA
Full-scale IQ, 46; non-verbal IQ, 49; verbal IQ, 47
24628951
24675922
46972
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11526.p1
7.6
M
Autism
NA
Full-scale IQ, 89; non-verbal IQ, 92; verbal IQ, 85
22909577
22941414
31838
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11665.p1
9.9
M
Autism
NA
Full-scale IQ, 72; non-verbal IQ, 79; verbal IQ, 65
24406811
24431308
24498
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11694.p1
8.8
M
Autism
NA
Full-scale IQ, 99; non-verbal IQ, 89; verbal IQ, 116
24406811
24425457
18647
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12170.p1
7.8
F
ASD
NA
Full-scale IQ, 80; non-verbal IQ, 85; verbal IQ, 77
23244017
23245158
1142
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12266.p1
5.7
M
Autism
NA
Full-scale IQ, 58; non-verbal IQ, 65; verbal IQ, 54
22828854
22838784
9931
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12643.p1
10.6
M
Autism
NA
Full-scale IQ, 60; non-verbal IQ, 70; verbal IQ, 40
24713036
24756895
43860
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12723.p1
6.7
M
Autism
NA
Full-scale IQ, 48; non-verbal IQ, 61; verbal IQ, 38
22971458
22979379
7922
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-13060.p1
6.8
M
Autism
NA
Full-scale IQ, 86; non-verbal IQ, 81; verbal IQ, 98
24624754
24675922
51169
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-13153.p1
9.3
M
Autism
NA
Full-scale IQ, 75; non-verbal IQ, 86; verbal IQ, 59
22833904
22838784
4881
GRCh38
Duplication
No
szatmari_07_ASD_discovery_cases-NAAR041-F10-00C04574
NA
ASD
NA
NA
23029961
24220162
1190202
GRCh38
Duplication
Yes
szatmari_07_ASD_discovery_cases-NAAR041-F9-00C04573
NA
ASD
NA
NA
23029961
24220162
1190202
GRCh38
Duplication
Yes
tropeano_13_DD/ASD_discovery_cases-case42
10 mos.
M
Birth defects
Raised blood pressure during pregnancy, scalded-skin syndrome. Affected father.
22992823
24316005
1323183
GRCh38
Deletion
No
yin_16_ASD_discovery_cases-case445
N/A
N/A
ASD
Cases diagnosed with autistic disorder according to DSM-IV and confirmed by using the Chinese version of ADI-R.
24498389
24559208
60820
GRCh38
Deletion
No
yin_16_ASD_discovery_cases-case446
N/A
N/A
ASD
Cases diagnosed with autistic disorder according to DSM-IV and confirmed by using the Chinese version of ADI-R.
24498389
24559208
60820
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
engchuan_15_ASD_discovery_controls-controlB106347_1007873601
N/A
N/A
Control
No previous psychiatric history
24711223
24756895
45673
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlB395936_1007853800
N/A
N/A
Control
No previous psychiatric history
24011704
24109582
97879
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlB416446_0067942614
N/A
N/A
Control
No previous psychiatric history
22779575
22922858
143284
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlB416446_0067942614
N/A
N/A
Control
No previous psychiatric history
24354330
24436036
81707
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlB594795_1007871727
N/A
N/A
Control
No previous psychiatric history
23064071
23873089
809019
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlB829544_0057060999
N/A
N/A
Control
No previous psychiatric history
24626459
24675922
49464
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlHABC_900060_900060
N/A
N/A
Control
No previous psychiatric history
24698126
24761990
63865
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlHABC_900939_900939
N/A
N/A
Control
No previous psychiatric history
22775594
22925582
149989
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlHABC_900939_900939
N/A
N/A
Control
No previous psychiatric history
24357843
24436036
78194
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlHABC_901071_901071
N/A
N/A
Control
No previous psychiatric history
24700538
24756889
56352
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlHABC_901073_901073
N/A
N/A
Control
No previous psychiatric history
24700538
24756889
56352
GRCh38
Duplication
No
girirajan_11_ASD_discovery_controls-NIMH_210
NA
NA
Control
NA
NA
22769941
22873664
103724
GRCh38
Duplication
No
girirajan_11_ASD_discovery_controls-NIMH_229
NA
NA
Control
NA
NA
24699942
24752151
52210
GRCh38
Duplication
No
krumm_13_ASD_discovery_controls-control11154.s1
N/A
F
Control
Unaffected sibling from SSC quad family 11154. SRS score of 45.
24701934
24711522
9589
GRCh38
Duplication
No (not tested)
krumm_15_ASD_discovery_controls-control11154.s1
N/A
Female
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
24698657
24711522
12866
GRCh38
Duplication
Yes
levy_11_ASD_discovery_controls-11154.s1
NA
F
Control
NA
NA
24696134
24759153
63020
GRCh38
Duplication
No
poultney_13_ASD_discovery_controls-control04C29259A
N/A
F
Control
NIMH Control (NIMH ID 86407)
24698656
24711524
12869
GRCh38
Duplication
No
poultney_13_ASD_discovery_controls-control05C45724
N/A
F
Control
NIMH Control (NIMH ID 98250)
23203693
24321770
1118078
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11154.s1
9.9
F
Control (matched sibling)
NA
NA
24698126
24756895
58770
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11233.s1
4.7
M
Control (matched sibling)
NA
NA
22779575
22925582
146008
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11233.s1
4.7
M
Control (matched sibling)
NA
NA
24357843
24431308
73466
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-12153.s1
16.5
F
Control (matched sibling)
NA
NA
22853610
22863448
9839
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-12170.s1
5.8
F
Control (matched sibling)
NA
NA
23244017
23245158
1142
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12613.s1
12.6
M
Control (matched sibling)
NA
NA
22779575
22932509
152935
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-12613.s1
12.6
M
Control (matched sibling)
NA
NA
24357843
24425457
67615
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-12723.s1
8.7
F
Control (matched sibling)
NA
NA
22971458
22979379
7922
GRCh38
Deletion
No
Cases
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
chaves_19_ASD/DD/ID_discovery_cases-case50
Unknown
RN7SL375P,DIAPH3-AS1,DIAPH3
dabell_13_ASD/DD/ID_discovery_cases-patient25
Paternal
Unknown
Unknown
RNY3P4,LINC00362,RNU6-58P,TATDN2P3,SDAD1P4,RPLP1P13,SACS-AS1,LINC00352,MTCO3P2,PCOTH,C1QTNF9B,ANKRD20A19P,IPO7P2,MIR2276,SPATA13-AS1,C1QTNF9-AS1,NUS1P3,LINC00566,HMGA1P6,LINC00327,C1QTNF9,SGCG,SACS,TNFRSF19,MIPEP,SPATA13
engchuan_15_ASD_discovery_cases-case1045_3
Unknown
RNY1P7,RPL26P34,ATP12A
engchuan_15_ASD_discovery_cases-case14164_2680
Unknown
RNY1P7,RPL26P34,IRX1P1,ATP12A
engchuan_15_ASD_discovery_cases-case1976_302
Unknown
RFESDP1,BASP1P1,LINC00621
engchuan_15_ASD_discovery_cases-case20188_1727001
Unknown
RNY1P7,RPL26P34,IRX1P1,ANKRD20A10P,ATP12A
engchuan_15_ASD_discovery_cases-case21012_1
Unknown
RNY3P4,LINC00362,RNU6-58P,TATDN2P3,SDAD1P4,RPLP1P13,SACS-AS1,LINC00352,MTCO3P2,PCOTH,C1QTNF9B,ANKRD20A19P,IPO7P2,MIR2276,SPATA13-AS1,C1QTNF9-AS1,NUS1P3,LINC00566,HMGA1P6,LINC00327,C1QTNF9,SGCG,SACS,TNFRSF19,MIPEP,SPATA13
engchuan_15_ASD_discovery_cases-case3438_3
Unknown
engchuan_15_ASD_discovery_cases-case4022_1
Unknown
MTCO3P2,PCOTH,C1QTNF9B,MIPEP
engchuan_15_ASD_discovery_cases-case4374_1
Unknown
RNY3P4,LINC00362,RNU6-58P,TATDN2P3,SDAD1P4,RPLP1P13,SACS-AS1,LINC00352,MTCO3P2,PCOTH,C1QTNF9B,ANKRD20A19P,IPO7P2,MIR2276,SPATA13-AS1,C1QTNF9-AS1,NUS1P3,LINC00566,HMGA1P6,LINC00327,C1QTNF9,SGCG,SACS,TNFRSF19,MIPEP,SPATA13
engchuan_15_ASD_discovery_cases-case5336_3
Unknown
RPL7AP73,IPMKP1,RFESDP1,BASP1P1,NUS1P2,LINC00621
engchuan_15_ASD_discovery_cases-case5336_3
Unknown
CYCSP33,TPTE2P6,PARP4
gai_11_ASD_replication_cases-AU012003
Inherited
ATP12A
girirajan_11_ASD_discovery_cases-Si163
Unknown
Simplex
girirajan_12_ASD/DD/ID_discovery_cases-case61119
FISH, aCGH, or confirmation by inheritance
Unknown
Unknown
Unknown
RNY3P4,LINC00362,RNU6-58P,TATDN2P3,SDAD1P4,RPLP1P13,SACS-AS1,LINC00352,MTCO3P2,PCOTH,C1QTNF9B,ANKRD20A19P,IPO7P2,MIR2276,SPATA13-AS1,HMGA1P6,LINC00327,SGCG,SACS,TNFRSF19,MIPEP,SPATA13
girirajan_13a_ASD_discovery_cases-14266.p1
Unknown
Simplex
Unknown
RNY3P4,LINC00362,RNU6-58P,TATDN2P3,SDAD1P4,RPLP1P13,SACS-AS1,LINC00352,MTCO3P2,PCOTH,C1QTNF9B,ANKRD20A19P,IPO7P2,MIR2276,SPATA13-AS1,C1QTNF9-AS1,NUS1P3,LINC00566,HMGA1P6,LINC00327,C1QTNF9,SGCG,SACS,TNFRSF19,MIPEP,SPATA13
griswold_12_ASD_discovery_cases-case18011
qPCR
Paternal
Simplex
Segregated
RNY3P4,LINC00362,RNU6-58P,TATDN2P3,SDAD1P4,RPLP1P13,SACS-AS1,LINC00352,MTCO3P2,PCOTH,C1QTNF9B,ANKRD20A19P,IPO7P2,MIR2276,SPATA13-AS1,C1QTNF9-AS1,NUS1P3,LINC00566,HMGA1P6,LINC00327,C1QTNF9,SGCG,SACS,TNFRSF19,MIPEP,SPATA13
guo_18_ASD/DD/ID_discovery_cases-caseBK-272-03
aCGH, Sanger sequencing
Paternal
Multiplex
Segregated
RNY3P4,LINC00362,RNU6-58P,TATDN2P3,SDAD1P4,RPLP1P13,SACS-AS1,LINC00352,MTCO3P2,PCOTH,C1QTNF9B,ANKRD20A19P,IPO7P2,MIR2276,SPATA13-AS1,C1QTNF9-AS1,NUS1P3,LINC00566,HMGA1P6,LINC00327,C1QTNF9,SGCG,SACS,TNFRSF19,MIPEP,SPATA13
guo_18_ASD/DD/ID_discovery_cases-caseBK-272-04
aCGH, Sanger sequencing
Paternal
Multiplex
Segregated
RNY3P4,LINC00362,RNU6-58P,TATDN2P3,SDAD1P4,RPLP1P13,SACS-AS1,LINC00352,MTCO3P2,PCOTH,C1QTNF9B,ANKRD20A19P,IPO7P2,MIR2276,SPATA13-AS1,C1QTNF9-AS1,NUS1P3,LINC00566,HMGA1P6,LINC00327,C1QTNF9,SGCG,SACS,TNFRSF19,MIPEP,SPATA13
guo_18_ASD/DD/ID_discovery_cases-caseBK-413-04
aCGH, Sanger sequencing
Maternal
Multiplex
Not segregated
RNY3P4,LINC00362,RNU6-58P,TATDN2P3,SDAD1P4,RPLP1P13,SACS-AS1,LINC00352,MTCO3P2,PCOTH,C1QTNF9B,ANKRD20A19P,IPO7P2,MIR2276,SPATA13-AS1,C1QTNF9-AS1,HMGA1P6,LINC00327,C1QTNF9,SGCG,SACS,TNFRSF19,MIPEP,SPATA13
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000916
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
MTCO3P2,PCOTH,C1QTNF9B,ANKRD20A19P,IPO7P2,TNFRSF19,MIPEP,SPATA13
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002401
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Paternal
Unknown
Unknown
RNU6-58P,TATDN2P3,SDAD1P4,RPLP1P13,SACS-AS1,LINC00352,LINC00327,SGCG,SACS,TNFRSF19
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002409
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
CYCSP33,PSPC1P2,RNY1P7,RPL26P34,IRX1P1,ANKRD20A10P,ATP12A,TPTE2P6,PARP4,RNF17,CENPJ
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002732
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Paternal
Unknown
Unknown
RNY3P4,LINC00362,RNU6-58P,TATDN2P3,SDAD1P4,RPLP1P13,SACS-AS1,LINC00352,HMGA1P6,LINC00327,SGCG,SACS
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00003865
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
NUS1P2,RNY3P4,LINC00362,RNU6-58P,TATDN2P3,SDAD1P4,RPLP1P13,SACS-AS1,LINC00352,MTCO3P2,PCOTH,C1QTNF9B,ANKRD20A19P,IPO7P2,MIR2276,SPATA13-AS1,C1QTNF9-AS1,NUS1P3,LINC00566,CYCSP33,LINC00621,HMGA1P6,LINC00327,C1QTNF9,SGCG,SACS,TNFRSF19,MIPEP,SPATA13,TPTE2P6,PARP4
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004123
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Maternal
Unknown
Unknown
RNY3P4,LINC00362,RNU6-58P,TATDN2P3,SDAD1P4,RPLP1P13,SACS-AS1,LINC00352,MTCO3P2,PCOTH,C1QTNF9B,ANKRD20A19P,IPO7P2,MIR2276,SPATA13-AS1,C1QTNF9-AS1,HMGA1P6,LINC00327,C1QTNF9,SGCG,SACS,TNFRSF19,MIPEP,SPATA13
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005207
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Maternal
Unknown
Unknown
RNY3P4,LINC00362,RNU6-58P,TATDN2P3,SDAD1P4,RPLP1P13,SACS-AS1,LINC00352,MTCO3P2,PCOTH,C1QTNF9B,ANKRD20A19P,IPO7P2,MIR2276,SPATA13-AS1,C1QTNF9-AS1,NUS1P3,LINC00566,HMGA1P6,LINC00327,C1QTNF9,SGCG,SACS,TNFRSF19,MIPEP,SPATA13
kanduri_15_ASD_discovery_cases-case1966
Maternal
Unknown
Unknown
Intergenic CNV: nearest genes, LINC00540(dist=494669),BASP1P1(dist=114033)
krumm_15_ASD_discovery_cases-case13844.p1
Omni2.5-4v1
Maternal
Simplex
Segregated
RNU6-58P,TATDN2P3,SDAD1P4,SGCG
kushima_18_SCZ_discovery_cases-caseSCZ1198
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
Simplex
Unknown
RNY3P4,LINC00362,RNU6-58P,TATDN2P3,SDAD1P4,RPLP1P13,SACS-AS1,LINC00352,MTCO3P2,PCOTH,C1QTNF9B,ANKRD20A19P,IPO7P2,MIR2276,SPATA13-AS1,C1QTNF9-AS1,HMGA1P6,LINC00327,C1QTNF9,SGCG,SACS,TNFRSF19,MIPEP,SPATA13
leppa_16_ASD_discovery_cases-AU0965301
Paternal
Multiplex
Not segregated (CNV not present in affected siblings)
RNY3P4,LINC00362,RNU6-58P,TATDN2P3,SDAD1P4,RPLP1P13,SACS-AS1,LINC00352,MTCO3P2,PCOTH,C1QTNF9B,ANKRD20A19P,IPO7P2,MIR2276,SPATA13-AS1,C1QTNF9-AS1,NUS1P3,LINC00566,HMGA1P6,LINC00327,C1QTNF9,SGCG,SACS,TNFRSF19,MIPEP,SPATA13
pinto_10_ASD_discovery_cases-case1045_3
Illumina550;Affy5.0
maternal
NA
NA
RNY1P7,RPL26P34,ATP12A
pinto_14_ASD_discovery_cases2-case4374_1
qPCR (Griswold et al. 2011, PMID: 21360829)
Paternal
Simplex
(not tested)
RNY3P4,LINC00362,RNU6-58P,TATDN2P3,SDAD1P4,RPLP1P13,SACS-AS1,LINC00352,MTCO3P2,PCOTH,C1QTNF9B,ANKRD20A19P,IPO7P2,MIR2276,SPATA13-AS1,C1QTNF9-AS1,NUS1P3,LINC00566,HMGA1P6,LINC00327,C1QTNF9,SGCG,SACS,TNFRSF19,MIPEP,SPATA13
pinto_14_ASD_discovery_cases2-case6233_4
qPCR
Maternal
Simplex
Segregated (no CNV in unaffected sib)
RNY3P4,LINC00362,RNU6-58P,TATDN2P3,SDAD1P4,RPLP1P13,SACS-AS1,LINC00352,MTCO3P2,PCOTH,C1QTNF9B,ANKRD20A19P,IPO7P2,MIR2276,SPATA13-AS1,C1QTNF9-AS1,NUS1P3,LINC00566,HMGA1P6,LINC00327,C1QTNF9,SGCG,SACS,TNFRSF19,MIPEP,SPATA13
poultney_13_ASD_discovery_cases-case04HI3375A
Unknown
Unknown (likely multiplex/AGRE)
Unknown
RNY1P7,RPL26P34,ATP12A
roberts_13_ASD/DD/ID_discovery_cases-DD/IDcase14
BACs aCGH or FISH
Paternal
Unknown
Unknown
NUS1P2,RNY3P4,LINC00362,RNU6-58P,TATDN2P3,SDAD1P4,RPLP1P13,SACS-AS1,LINC00352,MTCO3P2,PCOTH,C1QTNF9B,ANKRD20A19P,IPO7P2,MIR2276,SPATA13-AS1,C1QTNF9-AS1,NUS1P3,LINC00566,LINC00621,HMGA1P6,LINC00327,C1QTNF9,SGCG,SACS,TNFRSF19,MIPEP,SPATA13
rosenfeld_10_ASD_discovery_cases-case21622
FISH
Maternal
Unknown
Unknown
TNFRSF19,MIPEP,C1QTNF9B-AS1,C1QTNF9B
sajan_13_ACC/CBLH/PMG_discovery_cases-case1356-0
Not tested by qPCR
Unknown
Unknown
Unknown
RPL7AP73,IPMKP1,RFESDP1,BASP1P1,LINC00621
sajan_13_ACC/CBLH/PMG_discovery_cases-case1356-0
Not tested by qPCR
Unknown
Unknown
Unknown
CYCSP33,TPTE2P6,PARP4
sanders_11_ASD_discovery_cases-11134.p1
Maternal
Simplex (trio)
NA
sanders_11_ASD_discovery_cases-11233.p1
Maternal
Simplex (quad-proband matched)
Not segregated
RPL7AP73,IPMKP1,RFESDP1,BASP1P1,NUS1P2,LINC00621
sanders_11_ASD_discovery_cases-11233.p1
Maternal
Simplex (quad-proband matched)
Not segregated
CYCSP33,TPTE2P6,PARP4
sanders_11_ASD_discovery_cases-11270.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11526.p1
Maternal
Simplex (quad-proband matched)
Segregated
NUS1P2,LINC00621
sanders_11_ASD_discovery_cases-11665.p1
Maternal
Simplex (quad-proband matched)
Not segregated
TPTE2P6,PARP4
sanders_11_ASD_discovery_cases-11694.p1
Both parents
Simplex (quad-proband matched)
Segregated
TPTE2P6,PARP4
sanders_11_ASD_discovery_cases-12170.p1
Maternal
Simplex (quad-proband matched)
Not segregated
TATDN2P3,SGCG
sanders_11_ASD_discovery_cases-12266.p1
Paternal
Simplex (trio)
NA
IPMKP1
sanders_11_ASD_discovery_cases-12643.p1
Paternal
Simplex (quad-proband unmatched)
Unknown
IRX1P1,ANKRD20A10P
sanders_11_ASD_discovery_cases-12723.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-13060.p1
Maternal
Simplex (trio)
NA
sanders_11_ASD_discovery_cases-13153.p1
Paternal
Simplex (quad-proband matched)
Not segregated
IPMKP1
szatmari_07_ASD_discovery_cases-NAAR041-F10-00C04574
Karyotyping, qPCR, aCGH, array SNP, or overlap with Mendelian genotype errors
Unknown
NA
NA
RNY3P4,LINC00362,RNU6-58P,TATDN2P3,SDAD1P4,RPLP1P13,SACS-AS1,LINC00352,MTCO3P2,PCOTH,C1QTNF9B,ANKRD20A19P,IPO7P2,MIR2276,HMGA1P6,LINC00327,SGCG,SACS,TNFRSF19,MIPEP,SPATA13
szatmari_07_ASD_discovery_cases-NAAR041-F9-00C04573
Karyotyping, qPCR, aCGH, array SNP, or overlap with Mendelian genotype errors
Unknown
NA
NA
RNY3P4,LINC00362,RNU6-58P,TATDN2P3,SDAD1P4,RPLP1P13,SACS-AS1,LINC00352,MTCO3P2,PCOTH,C1QTNF9B,ANKRD20A19P,IPO7P2,MIR2276,HMGA1P6,LINC00327,SGCG,SACS,TNFRSF19,MIPEP,SPATA13
tropeano_13_DD/ASD_discovery_cases-case42
Paternal
Maternal
RNY3P4,LINC00362,RNU6-58P,TATDN2P3,SDAD1P4,RPLP1P13,SACS-AS1,LINC00352,MTCO3P2,PCOTH,C1QTNF9B,ANKRD20A19P,IPO7P2,MIR2276,SPATA13-AS1,C1QTNF9-AS1,HMGA1P6,LINC00327,C1QTNF9,SGCG,SACS,TNFRSF19,MIPEP,SPATA13
yin_16_ASD_discovery_cases-case445
Unknown
Unknown
Unknown
TPTE2P6,PARP4
yin_16_ASD_discovery_cases-case446
Unknown
Unknown
Unknown
TPTE2P6,PARP4
Controls
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
engchuan_15_ASD_discovery_controls-controlB106347_1007873601
Unknown
IRX1P1,ANKRD20A10P,ATP12A
engchuan_15_ASD_discovery_controls-controlB395936_1007853800
Unknown
SPATA13
engchuan_15_ASD_discovery_controls-controlB416446_0067942614
Unknown
RPL7AP73,IPMKP1,RFESDP1,BASP1P1,NUS1P2,LINC00621
engchuan_15_ASD_discovery_controls-controlB416446_0067942614
Unknown
CYCSP33,TPTE2P6,PARP4
engchuan_15_ASD_discovery_controls-controlB594795_1007871727
Unknown
RNY3P4,LINC00362,RNU6-58P,TATDN2P3,SDAD1P4,RPLP1P13,SACS-AS1,LINC00352,MTCO3P2,HMGA1P6,LINC00327,SGCG,SACS,TNFRSF19,MIPEP
engchuan_15_ASD_discovery_controls-controlB829544_0057060999
Unknown
engchuan_15_ASD_discovery_controls-controlHABC_900060_900060
Unknown
RNY1P7,RPL26P34,IRX1P1,ANKRD20A10P,ATP12A
engchuan_15_ASD_discovery_controls-controlHABC_900939_900939
Unknown
RPL7AP73,IPMKP1,RFESDP1,BASP1P1,NUS1P2,LINC00621
engchuan_15_ASD_discovery_controls-controlHABC_900939_900939
Unknown
CYCSP33,TPTE2P6,PARP4
engchuan_15_ASD_discovery_controls-controlHABC_901071_901071
Unknown
RNY1P7,RPL26P34,IRX1P1,ANKRD20A10P,ATP12A
engchuan_15_ASD_discovery_controls-controlHABC_901073_901073
Unknown
RNY1P7,RPL26P34,IRX1P1,ANKRD20A10P,ATP12A
girirajan_11_ASD_discovery_controls-NIMH_210
Unknown
RPL7AP73,IPMKP1,RFESDP1
girirajan_11_ASD_discovery_controls-NIMH_229
Unknown
RNY1P7,RPL26P34,IRX1P1,ANKRD20A10P,ATP12A
krumm_13_ASD_discovery_controls-control11154.s1
Paternal
Simplex
RNY1P7,RPL26P34,ATP12A
krumm_15_ASD_discovery_controls-control11154.s1
Illumina 1M
Paternal
RNY1P7,RPL26P34,ATP12A
levy_11_ASD_discovery_controls-11154.s1
Paternal
Simplex
NA
RNY1P7,RPL26P34,IRX1P1,ANKRD20A10P,ATP12A
poultney_13_ASD_discovery_controls-control04C29259A
Unknown
RNY1P7,RPL26P34,ATP12A
poultney_13_ASD_discovery_controls-control05C45724
Unknown
RNU6-58P,TATDN2P3,SDAD1P4,RPLP1P13,SACS-AS1,LINC00352,MTCO3P2,PCOTH,C1QTNF9B,ANKRD20A19P,IPO7P2,MIR2276,SPATA13-AS1,C1QTNF9-AS1,LINC00327,C1QTNF9,SGCG,SACS,TNFRSF19,MIPEP,SPATA13
sanders_11_ASD_discovery_controls-11154.s1
Paternal
Simplex (quad)
NA
RNY1P7,RPL26P34,IRX1P1,ANKRD20A10P,ATP12A
sanders_11_ASD_discovery_controls-11233.s1
Maternal
Simplex (quad)
NA
RPL7AP73,IPMKP1,RFESDP1,BASP1P1,NUS1P2,LINC00621
sanders_11_ASD_discovery_controls-11233.s1
Maternal
Simplex (quad)
NA
CYCSP33,TPTE2P6,PARP4
sanders_11_ASD_discovery_controls-12153.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12170.s1
Maternal
Simplex (quad)
NA
TATDN2P3,SGCG
sanders_11_ASD_discovery_controls-12613.s1
Maternal
Simplex (quad)
NA
RPL7AP73,IPMKP1,RFESDP1,BASP1P1,NUS1P2,LINC00621
sanders_11_ASD_discovery_controls-12613.s1
Maternal
Simplex (quad)
NA
CYCSP33,TPTE2P6,PARP4
sanders_11_ASD_discovery_controls-12723.s1
Maternal
Simplex (quad)
NA
No Animal Model Data Available