3p14.1CNV Type: Deletion-Duplication
Largest CNV size: 1300000 bp
Statistics Box:
Number of Reports: 21
Number of Reports: 21
Summary Information
Summary statement in development
Additional Locus Information
References
Major Reports
Title
Author, Year
Report Class
CNV Type
Mapping autism risk loci using genetic linkage and chromosomal rearrangements.
Deletion
Novel submicroscopic chromosomal abnormalities detected in autism spectrum disorder.
Deletion
De novo mutations in FOXP1 in cases with intellectual disability, autism, and language impairment.
Deletion
Social Responsiveness Scale-aided analysis of the clinical impact of copy number variations in autism.
Deletion
An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabili...
Deletion-Duplication
3p14.1 de novo microdeletion involving the FOXP1 gene in an adult patient with autism, severe speech delay and deficit of motor coordination.
Deletion
Both rare and de novo copy number variants are prevalent in agenesis of the corpus callosum but not in cerebellar hypoplasia or polymicrogyria.
Deletion
The clinical significance of small copy number variants in neurodevelopmental disorders.
Deletion
Excess of rare, inherited truncating mutations in autism.
Deletion-Duplication
Minor Reports
Title
Author, Year
Report Class
CNV Type
Rare structural variation of synapse and neurotransmission genes in autism.
Deletion
Multiple recurrent de novo CNVs, including duplications of the 7q11.23 Williams syndrome region, are strongly associated with autism.
Deletion-Duplication
A discovery resource of rare copy number variations in individuals with autism spectrum disorder.
Deletion
Refinement and discovery of new hotspots of copy-number variation associated with autism spectrum disorder.
Deletion-Duplication
Rare exonic deletions implicate the synaptic organizer Gephyrin (GPHN) in risk for autism, schizophrenia and seizures.
Deletion
Performance of case-control rare copy number variation annotation in classification of autism.
Deletion-Duplication
Paired-Duplication Signatures Mark Cryptic Inversions and Other Complex Structural Variation.
Duplication
Rare Inherited and De Novo CNVs Reveal Complex Contributions to ASD Risk in Multiplex Families.
Deletion
Copy number variation analysis of patients with intellectual disability from North-West Spain.
Duplication
Rare Copy Number Variations in a Chinese Cohort of Autism Spectrum Disorder
Duplication
Cases
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
asadollahi_14_NDD_discovery_cases
Patients screened for rare non-polymorphic exonic CNVs sizing 1-500 kb
714
Patients with undiagnosed neurodevelopmental disorders (NDD) with or without further congenital anomalies
N/A
N/A
170000
1
0
1
brand_15_ASD_discovery_cases
ASD cases who had been previously been screened by CNVs by CMA as part of the Simons Simplex Collection (SSC) in Sanders et al., 2011
259
Diagnosis of ASD
N/A
N/A
241688
0
4
4
christian_08_ASD_discovery_cases
Subset of unrelated AGRE subjects (362 from multiplex families, 35 from simplex families)
397
ASD
58.4% Male
1300000
1
0
1
digregorio_17_DD/ID_discovery_cases
Consecutive cases examined in the Medical Genetics Unit at the "Citta della Salte e della Scienza" University Hospital (Turin, Italy) from 2008 to 2014 (cases with CNVs are present in DECIPHER database)
1015
Cases diagnosed with idiopathic developmental delay and/or intellectual disability (DD/ID)
N/A
N/A
649000
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
50678
5
1
6
fan_19_ASD_discovery_cases
Chinese individuals recruited from July 2014 to December 2017 from the Developmental and Behavioral Clinic at Xinhua Hospital and Shanghai Children's Medical Center
401
Cases diagnosed with ASD (DSM-5, ADOS, CARS)
Range, 1 year 5 months-17 years
83.54% Male
3207000
0
1
1
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
1403448
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
276000
1
1
2
hamdan_10_ASD_discovery_cases
Individuals with sporadic ASD
80
ASD (diagnosed according to DSM-IV criteria and selected based on ADI-R and/or ADOS-G). 27 individuals also have documented ID.
NA
NA
0
0
0
0
hamdan_10_ID_discovery_cases
Individuals with sporadic non-syndromic intellectual disability (NSID)
30
Non-syndromic intellectual disability (NSID)
NA
NA
390000
1
0
1
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)
51247
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
1110450
1
1
2
krumm_15_ASD_discovery_cases
Probands from the Simons Simplex Collection
2377
Diagnosis of ASD
N/A
N/A
45093
1
3
4
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
2
0
2
lionel_13_ASD/SCZ/EP_discovery_cases
Patient cohort composed of 1158 Canadian ASD patients, 72 Austrian ASD patients, 450 Canadian schizophrenia patients, and a clinical dataset of 3704 individuals with primary diagnosis of ASD and/or seizure disorder referred for clinical microarray testing at the Mayo Clinic cytogenetics laboratory.
5384
ASD (n=1230), schizophrenia (n=450), and ASD and/or seizure disorder (n=3704). Canadian and Austrian ASD patients met criteria for ASD diagnosis based on ADI-R and/or ADOS.
NA
NA
21218
1
0
1
palumbo_13_ASD_discovery_cases
Male ASD patient referred to genetic clinic [IRCCS Casa Sollievo della Sofferenza, San Giovanni Rotondo (FG), Italy] for severe psychomotor retardation and speech delay; born to healthy non-consanguineous parents with no family history of learning difficulties, seizures, autism, or mental health problems.
1
Diagnosis of autism (DSM-IV criteria)
20 yrs.
Male
1000000
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
30137
1
0
1
quintela_17_DD/ID_discovery_cases
Galician (NW Spain) patients recruited from the Complexo Hospitalario Universitario de Santiago de Compostela and referred to the Fundacion Publica Galega de Medicina Xenomica for genetic study
573
All participants had a clinical diagnosis of idiopathic intellectual disability (ID) or global developmental delay (DD) with or without another medical condition [e.g. autism spectrum disorder (ASD), attention deficit hyperactivity disorder (ADHD), epilepsy, dysmorphic features, and/or congenital anomalies]
Range, 3 months-18 years
60.38% Male
870133
0
1
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
223853
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
282221
5
3
8
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
1194600
3
0
3
van_daalen_11_ASD_discovery_cases
ASD probands selected from initial cohort of 210 preschoolers based on clinical characteristic scores. 21 probands from multiplex families, 29 probands from simplex families. Social Responsiveness Scale (SRS) administered to probands, parents, and available siblings.
50
ASD (DSM-IV-TR, ADOS-G, and ADI-R)
37812
1
0
1
Controls
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
christian_08_ASD_discovery_controls
Control subjects from NIMH Genetics Initiative Control sample set, characterized for Axis I disorders
372
Controls
1300000
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
202524
9
2
11
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
7325
2
2
4
krumm_15_ASD_discovery_controls
Unaffected siblings from quad families from the Simons Simplex Collection
1786
Control
N/A
N/A
17923
0
2
2
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)
30137
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.
169822
5
4
9
Cases
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
asadollahi_14_NDD_discovery_cases
Predominantly European
Array SNP
Affymetrix 6.0, Affymetrix Cytogenetics 2.7, Affymetrix CytoScan HD
HMM
Affymetrix ChAS v.1.0.1
MLPA
brand_15_ASD_discovery_cases
N/A
Long-insert WGS
Long-insert whole genome sequencing
LUMPY, cn.MOPS, SV classifier
None
christian_08_ASD_discovery_cases
235 White/Not Hispanic, 28 White/Hispanic, 9 Asians, 4 Blacks, 14 Mixed/Not Hispanic, 7 Mixed/Hispanic, 98 Unknown
aCGH
RPCI 19K BAC microarray
FISH, microsatellite, qPCR
digregorio_17_DD/ID_discovery_cases
Italian
aCGH
Agilent 60K (SurePrint G3 Human CGH Microarray 8x60K)
ADM-2
Agilent CGH Analytics software ver. 4.0.81
None
engchuan_15_ASD_discovery_cases
Caucasian
Solid phase hybridization
Illumina 1M
None
fan_19_ASD_discovery_cases
Chinese
Array SNP
Affymetrix CytoScan HD
ChAS
None
gai_11_ASD_replication_cases
European
Solid phase hybridization
Illumina Infinium II HumanHap550 BeadChip
BeadStudio 3.0
None
girirajan_13a_ASD_discovery_cases
NA
aCGH
Custom microarray with a high density of probes targeted to 1,367 regions with a susceptible genomic architecture
ADM-2
Agilent Genomic Workbench
None
hamdan_10_ASD_discovery_cases
Predominantly French Canadian
Array SNP
Affymetrix 5.0
N/A
N/A
None
hamdan_10_ID_discovery_cases
Predominantly French Canadian
Array SNP
Affymetrix 6.0
N/A
N/A
MLPA
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
krumm_15_ASD_discovery_cases
N/A
WES
CoNIFER, XHMM
Solid phase hybridization (Illumina 1M, 1 M Duo, or Omni 2.5)
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
lionel_13_ASD/SCZ/EP_discovery_cases
NA
aCGH, array SNP
Agilent ISCA 44K, Agilent 180K, Affymetrix 6.0
Agilent DNA Analytics, Birdsuite, iPattern, Affymetrix Genotyping Console
None
palumbo_13_ASD_discovery_cases
Caucasian
Array SNP
Affymetrix 6.0
Genotyping Console Software 4.0
Array SNP (Affymetrix CytoScan HD array)
prasad_12_ASD_discovery_cases
Canada
aCGH
Agilent 1M
ADM-2, DNAcopy (R Bioconductor)
DNA Analytics v4.0.85 (Agilent), DNAcopy
None
quintela_17_DD/ID_discovery_cases
North West Spain
Array SNP
Affymetrix Cytogenetics Whole-Genome 2M SNP array, Affymetrix CytoScan HD
Affymetrix ChAS v.1.2.2
None
sajan_13_ACC/CBLH/PMG_discovery_cases
81.31% Caucasian
Solid phase hybridization
Illumina InfiniumII HumanHap610
PennCNV
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
van_daalen_11_ASD_discovery_cases
Netherlands
Solid phase hybridization
Illumina HumanHap300 BeadChip
Beadstudio V2.3.41
FISH
Controls
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
christian_08_ASD_discovery_controls
262 Caucasians, 100 African-Americans
aCGH
RPCI 19K BAC microarray
engchuan_15_ASD_discovery_controls
Caucasian
Solid phase hybridization
Illumina 1M
None
kaminsky_11_DD/ID/ASD_discovery_controls
NA
aCGH
Agilent 44K, Agilent 105K
Feature Extraction, DNA Analytics
kanduri_15_ASD_discovery_controls
Finnish
Solid phase hybridization
Illumina Infinium HD Human610-Quad BeadChip
QuantiSNP, PennCNV
Illumina BeadStudio
None
krumm_15_ASD_discovery_controls
N/A
WES
CoNIFER, XHMM
Solid phase hybridization (Illumina 1M, 1 M Duo, or Omni 2.5)
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
asadollahi_14_NDD_discovery_cases-case55113
18 yrs.
M
ADHD
ADHD, microcephaly, short stature, myopia
67459519
67629133
169615
GRCh38
Deletion
Yes
brand_15_ASD_discovery_cases-case6
N/A
N/A
ASD
Long-insert WGS identified a dupINV-Trip-dup involving chromosome 3 in this case. Triplication not previously identified by aCGH.
65161121
65171554
10434
GRCh38
Triplication
No
brand_15_ASD_discovery_cases-case6
N/A
N/A
ASD
Long-insert WGS identified a dupINV-Trip-dup involving chromosome 3 in this case. Duplication previously observed by aCGH as combined with another duplication (chr3:65121760-65398898; hg19).
65171825
65413513
241689
GRCh38
Duplication
No
brand_15_ASD_discovery_cases-case6
N/A
N/A
ASD
Long-insert WGS identified a dupINV-Trip-dup involving chromosome 3 in this case. Duplication previously observed by aCGH as combined with another duplication (chr3:65121760-65398898; hg19).
65133822
65171825
38004
GRCh38
Duplication
No
christian_08_ASD_discovery_cases-AU003404
NA
F
ASD
NA
NA
67606406
68908055
1301650
GRCh38
Deletion
Yes
digregorio_17_DD/ID_discovery_cases-DECIPHER_300768
N/A
M
Developmental delay/intellectual disability
68856598
69505554
648957
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case13118_1353
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
65190441
65229010
38570
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case14188_3120
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
65199224
65230129
30906
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case3218_3
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
65199224
65230129
30906
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case3492_3
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
65704972
65755650
50679
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case4233_1
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
69990630
70030611
39982
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case5364_3
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
65199224
65230129
30906
GRCh38
Deletion
No
fan_19_ASD_discovery_cases-caseASD343
3 yrs. 10 mos.
M
ASD
CARS score 42.5 (severe severity)
66080734
69224039
3143306
GRCh38
Duplication
No
gai_11_ASD_replication_cases-AU003404
Autism
67702162
69105609
1403448
Unknown
Deletion
No
girirajan_13a_ASD_discovery_cases-11464.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
65129285
65409285
280001
GRCh38
Duplication
No
girirajan_13a_ASD_discovery_cases-AU1718301
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
71077398
71318225
240828
GRCh38
Deletion
No
hamdan_10_ID_discovery_cases-patientA
15 yrs. 11 mos.
F
Intellectual disability + autistic features
Patient displayed autistic features in reciprocal social interaction (social avoidance with peers, decreased inhibition with adults) and restricted interests and repetitive behaviors (delayed echolalia and stereotyped language, self-injurious behavior, perceptual fixations), but due to subthreshold scores in the communication area, no diagnosis of autism was given (assessment made using ADI-R and ADOS-G at 6 years 8 months). Birth/neonatal history: uneventful pregnancy and delivery. Developmental milestones: development characterized by global delay with severe language impairment (not clearly pronouncing words until 3 years, started to associate words at 4 years); started to walk between 18-20 months. Pre-school Language Scale: age equivalences for auditory comprehension, expressive communication, and total language score not determined. Clinical Evaluation of Language Fundamentals, expressive language subtests: morphology and recalling sentences, age equivalence of <4 yrs.; expressive vocabulary, age equivalence of <4 yrs. 5 mos. Clinical Evaluation of Language Fundamentals, receptive language subtests: concepts and following directions, age equivalence of 4 yrs. 3 mos.; basic concepts, age equivalence of <4 yrs.; sentence structure, age equivalence of < 4yrs. Vineland Adaptive Behavior Scales: communication, 1st %ile; daily living, 2nd %ile; socialization, <1st %ile; adaptive behavior composite, 1st %ile; clinically significant findings for internalizing & externalizing behavioral abnormalities, as well as for maladaptive behavior index. Aberrant Behavior Checklist: irritability subscale, 26 (+2.3 SD); lethary subscale, 19 (+1.7 SD); stereotypy subscale, 7 (+1.6 SD); hyperactivity subscale, 24 (+1.6 SD); inappropriate speech subscale, 6 (+1.6 SD). Repetitive Behavior Scale-Revised: stereotyped behavior, score of 3; self-injurious behavior, score of 1; compulsive behavior, socre of 3; ritualistic behavior, score of 6; sameness behavior, score of 6; restricted behavior, score of 4. Family history: born to non-consanguineous French Canadian parents.
Intellectual disability (ID). Leiter International Performance Scale-R BRIEF IQ store of 58 (0.3 %ile).
70983034
71372799
389766
GRCh38
Deletion
Yes
itsara_10_ASD_discovery_cases-HI4074
NA
NA
Autism
NA
NA
65713730
65764977
51248
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000997
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
70418081
71438421
1020341
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001679
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
65790274
66728325
938052
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_cases-case11464.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Trio
65356377
65401470
45094
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_cases-case12025.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Trio
66362844
66370617
7774
GRCh38
Deletion
Yes
krumm_15_ASD_discovery_cases-case12101.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
69023176
69035115
11940
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_cases-case13864.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
69104463
69122386
17924
GRCh38
Duplication
Yes
leppa_16_ASD_discovery_cases-AU003404
N/A
F
ASD
67568576
68976849
1408274
GRCh38
Deletion
No
leppa_16_ASD_discovery_cases-AU003406
N/A
M
ASD
67568576
68976849
1408274
GRCh38
Deletion
No
lionel_13_ASD/SCZ/EP_discovery_cases-proband1
13 yrs.
F
ASD
Diagnosis of high-functioning ASD made following assessment at 13 years of age using ADOS and ADI-R. Birth/neonatal history: uncomplicated pregnancy; delivery at 38 weeks of gestation. Developmental milestones: walking at 12 months, otherwise had slow motor development and gait issues, which prompted ergotherapy; language delay with no speech at 2 yrs., followed by gradual speech development by 4 yrs. Language and communication evaluation: episodes of echolalia. Behavioral/psychiatric evaluation: up to 6 years of age, case continued to desire swaddling and had hypersensitivty to light and sound associated with self-injury (head banging, tearing hair). Dysmorphic features: none reported. Family history: non-consanguineous parents; no reported medical or neuropsychiatric conditions in parents or two older siblings.
Completed secondary school degree with exception of mathematics
65203560
65224777
21218
GRCh38
Deletion
No
palumbo_13_ASD_discovery_cases-case1
20 yrs.
M
Autism
Diagnosis of autism according to DSM-IV criteria. Developmental milestones: psychomotor developmental delay, particular concerning language, detected as a child; walking after 24 months of age. Language and communication evaluation: severe speech delay; qualitive alterations in communication with absence of verbal language that is not compensated by gestures or facial expressions. Motor and musculoskeletal evaluation: deficits of motor coordination. Behavioral/psychiatric evaluation: strong emotional and affective liability, self-injurious and aggressive behavior, hyperactivity, attention-deficit disorder, dyspraxia, pica; qualititative alterations of social interactions, inability to form peer relationships, lack of spontaneous seeking of sharing, social or emotional reciprocity; stereotyped/repetitive-restricted behaviors, interests, and activities. EEG: unspecified anomlies. Brain imaging: normal brain MRI. Dysmorphic features: hypotonic and long face, broad and prominent forehead, palpebral ptosis, down-slanting palpebral fissures, open mouth, thick lips, abnormal tooth position, malocclusion, open bite, pointed chin. Growth parameters: height, weight, and head circumference within normal range. Family history: first of two children of healthy non-consanguineous Caucasian parents; younger sister has no learning or behavioral problems; no family history of learning difficulties, seizures, autism, or mental health problems.
Intellectual disability (formal testing NA); assessment of adaptive behavior revealed significant impairment in motor skills, skills of daily living, socialization and communication skills.
70380155
71388526
1008372
GRCh38
Deletion
Yes
prasad_12_ASD_discovery_cases-case107433
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
63735794
63765930
30137
Unknown
Deletion
No
quintela_17_DD/ID_discovery_cases-caseID_230
10 yrs.
M
ASD and intellectual disability
ASD, hyperactivity, dysmorphic facial features
65517096
66322479
805384
GRCh38
Duplication
No
sajan_13_ACC/CBLH/PMG_discovery_cases-caseLR08-095
N/A
N/A
PMG
Diagnosis of polymicrogyria (PMG).
69352097
69517760
165664
GRCh38
Deletion
Yes
sajan_13_ACC/CBLH/PMG_discovery_cases-caseLR08-127
N/A
N/A
CBLH
Diagnosis of cerebellar hypoplasia (CBLH).
69133853
69357705
223853
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11464.p1
4.5
M
Autism
NA
Full-scale IQ, 92; non-verbal IQ, 103; verbal IQ, 78
65131002
65413223
282222
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11549.p1
12.2
M
Autism
NA
Full-scale IQ, 48; non-verbal IQ, 61; verbal IQ, 36
65243923
65248470
4548
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11700.p1
6.5
M
Autism
NA
Full-scale IQ, 88; non-verbal IQ, 96; verbal IQ, 80
65745126
65748166
3041
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12063.p1
8.7
M
Autism
NA
Full-scale IQ, 92; non-verbal IQ, 96; verbal IQ, 82
68851671
68873498
21828
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12101.p1
5.1
M
Autism
NA
Full-scale IQ, 61; non-verbal IQ, 73; verbal IQ, 38
69015640
69033722
18083
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12228.p1
6.8
M
Autism
NA
Full-scale IQ, 108; non-verbal IQ, 117; verbal IQ, 90
67198309
67204462
6154
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12582.p1
6.3
M
Autism
NA
Full-scale IQ, 57; non-verbal IQ, 73; verbal IQ, 45
65575896
65596462
20567
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-13013.p1
8.1
M
Autism
NA
Full-scale IQ, 72; non-verbal IQ, 68; verbal IQ, 86
69867486
69898650
31165
GRCh38
Deletion
No
szatmari_07_ASD_discovery_cases-NAAR007-B2-8159-101
NA
ASD
NA
NA
67640186
68836059
1195874
GRCh38
Deletion
Yes
szatmari_07_ASD_discovery_cases-NAAR007-B4-AU32503
NA
ASD
NA
NA
67640186
68836059
1195874
GRCh38
Deletion
Yes
szatmari_07_ASD_discovery_cases-NAAR007-B6-8159-203
NA
ASD
NA
NA
67640186
68836059
1195874
GRCh38
Deletion
Yes
van_daalen_11_ASD_discovery_cases-S2
6 yrs. 8 mos.
M
ASD
DSM-IV-TR classification: autistic disorder; ADOS-G classification: autism spectrum disorder; ADI-R classification: autistic disorder. SRS score: 90. No family history of ASD and/or intellectual disability. Facial dysmorphic features, minor malformations & congenital anomalies. Family phenotypes: father's SRS score, 21; mother's SRS score, 42.
Mullen Scales of Early Learning (MSEL) cognitive score: 69
63880271
63918083
37813
GRCh38
Deletion
Yes
Controls
Patient ID
Author, Year
Age
Gender
Primary Diagnosis
Clinical Profile
Cognitive Profile
CNV Start
CNV End
CNV Size
Genome Build
Type Method
Validation
engchuan_15_ASD_discovery_controls-controlB253338_1007841376
N/A
N/A
Control
No previous psychiatric history
65199224
65230129
30906
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlB276411_1007854167
N/A
N/A
Control
No previous psychiatric history
65192321
65229010
36690
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlB356202_1007844561
N/A
N/A
Control
No previous psychiatric history
65199224
65230129
30906
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlB466917_1007874508
N/A
N/A
Control
No previous psychiatric history
65199224
65230129
30906
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlB582098_1007870332
N/A
N/A
Control
No previous psychiatric history
65199224
65230129
30906
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlB596934_1007874627
N/A
N/A
Control
No previous psychiatric history
65131002
65185404
54403
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlB653212_1007874323
N/A
N/A
Control
No previous psychiatric history
68113023
68155789
42767
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlB772514_1007874267
N/A
N/A
Control
No previous psychiatric history
65199224
65230129
30906
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlHABC_900894_900894
N/A
N/A
Control
No previous psychiatric history
69120315
69214706
94392
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlHABC_902480_902480
N/A
N/A
Control
No previous psychiatric history
65741483
65900844
159362
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlHABC_902808_902808
N/A
N/A
Control
No previous psychiatric history
65493393
65695917
202525
GRCh38
Deletion
No
kanduri_15_ASD_discovery_controls-control_split1247
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
65206583
65212596
6014
Unknown
Duplication
No
kanduri_15_ASD_discovery_controls-control_split1274
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
65854178
65861502
7325
Unknown
Deletion
No
kanduri_15_ASD_discovery_controls-control_split1402
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
65206583
65211507
4925
Unknown
Duplication
No
kanduri_15_ASD_discovery_controls-control_split968
N/A
N/A
Control
Control screened for DSM-IV mental disorders using the Composite International Diagnostic Interview and psychotic disorders using the research version of the Structured Clinical Interview for DSM-IV
65206583
65212596
6014
Unknown
Deletion
No
krumm_15_ASD_discovery_controls-control12101.s1
N/A
Male
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
69023176
69035115
11940
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_controls-control13864.s1
N/A
Male
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
69104463
69122386
17924
GRCh38
Duplication
Yes
sanders_11_ASD_discovery_controls-11002.s1
10.4
M
Control (matched sibling)
NA
NA
68580493
68594525
14033
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11290.s1
13.4
F
Control (matched sibling)
NA
NA
67239115
67289601
50487
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11391.s1
18.1
M
Control (matched sibling)
NA
NA
66874549
66876268
1720
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11505.s1
9.9
F
Control (matched sibling)
NA
NA
65725110
65894932
169823
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11549.s1
21.9
F
Control (matched sibling)
NA
NA
65243923
65248470
4548
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11685.s1
7.8
M
Control (matched sibling)
NA
NA
65132272
65133087
816
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11700.s1
11
F
Control (matched sibling)
NA
NA
65745126
65748166
3041
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12063.s1
11.8
F
Control (matched sibling)
NA
NA
68856493
68873498
17006
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-12101.s1
5.1
M
Control (matched sibling)
NA
NA
69015640
69033722
18083
GRCh38
Duplication
No
Cases
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
asadollahi_14_NDD_discovery_cases-case55113
MLPA
Maternal
Unknown
Unknown
NDUFB4P1,SUCLG2
brand_15_ASD_discovery_cases-case6
Maternal
Simplex
Unknown
brand_15_ASD_discovery_cases-case6
Maternal
Simplex
Unknown
LINC02040,MAGI1
brand_15_ASD_discovery_cases-case6
Maternal
Simplex
Unknown
christian_08_ASD_discovery_cases-AU003404
FISH, microsatellite
inherited
Multiplex
NA
COPS8P2,PSMC1P1,RNA5SP135,SUCLG2,SUCLG2-AS1,FAM19A4,FAM19A1
digregorio_17_DD/ID_discovery_cases-DECIPHER_300768
Unknown
RNA5SP135,MIR3136,RBM43P1,EOGT,TMF1,ARL6IP5,LMOD3,FAM19A4,UBA3,FRMD4B
engchuan_15_ASD_discovery_cases-case13118_1353
Unknown
LINC02040
engchuan_15_ASD_discovery_cases-case14188_3120
Unknown
engchuan_15_ASD_discovery_cases-case3218_3
Unknown
engchuan_15_ASD_discovery_cases-case3492_3
Unknown
MAGI1
engchuan_15_ASD_discovery_cases-case4233_1
Unknown
SAMMSON
engchuan_15_ASD_discovery_cases-case5364_3
Unknown
fan_19_ASD_discovery_cases-caseASD343
Unknown
Unknown
Unknown
RNU6-787P,RN7SL482P,RPL21P41,MIR4272,NDUFB4P1,COPS8P2,PSMC1P1,RNA5SP135,MIR3136,KBTBD8,EOGT,TMF1,ARL6IP5,LMOD3,SLC25A26,LRIG1,SUCLG2,SUCLG2-AS1,UBA3,FRMD4B
gai_11_ASD_replication_cases-AU003404
Inherited
SUCLG2, FAM19A1, FAM19A4, FAM19A4
girirajan_13a_ASD_discovery_cases-11464.p1
Unknown
Simplex
Unknown
LINC02040,MAGI1
girirajan_13a_ASD_discovery_cases-AU1718301
Unknown
Multiplex
Unknown
FOXP1,FOXP1-AS1
hamdan_10_ID_discovery_cases-patientA
MLPA
De novo
Simplex
Possibly segregated
FOXP1,FOXP1-AS1
itsara_10_ASD_discovery_cases-HI4074
aCGH (custom NimbleGen 12 X 135)
De novo
Multiplex
MAGI1
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000997
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
De novo
Unknown
Unknown
COX6CP6,HMGB1P36,RNU6-281P,SAMMSON,FOXP1,FOXP1-AS1
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001679
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Maternal
Unknown
Unknown
RPL17P17,RNU6-787P,RN7SL482P,RPL21P41,MAGI1-AS1,MAGI1,MAGI1-IT1,SLC25A26,LRIG1
krumm_15_ASD_discovery_cases-case11464.p1
Illumina 1MDuo
Maternal
Simplex
Segregated
MAGI1
krumm_15_ASD_discovery_cases-case12025.p1
Illumina 1MDuo
Paternal
Simplex
Segregated
SLC25A26
krumm_15_ASD_discovery_cases-case12101.p1
Illumina 1MDuo
Maternal
Simplex
Not segregated (CNV in unaffected sibling)
TMF1
krumm_15_ASD_discovery_cases-case13864.p1
Omni2.5-4v1
Paternal
Simplex
Not segregated (CNV in unaffected sibling)
ARL6IP5,LMOD3
leppa_16_ASD_discovery_cases-AU003404
Paternal
Multiplex
Segregated (CNV present in affected siblings, not present in unaffected siblings)
COPS8P2,PSMC1P1,RNA5SP135,EOGT,SUCLG2,SUCLG2-AS1,FAM19A4,FAM19A1
leppa_16_ASD_discovery_cases-AU003406
Paternal
Multiplex
Segregated (CNV present in affected siblings, not present in unaffected siblings)
COPS8P2,PSMC1P1,RNA5SP135,EOGT,SUCLG2,SUCLG2-AS1,FAM19A4,FAM19A1
lionel_13_ASD/SCZ/EP_discovery_cases-proband1
Unknown
Simplex
Unknown
palumbo_13_ASD_discovery_cases-case1
Array SNP (Affymetrix CytoScan HD array)
De novo, paternal chromosome
Simplex
Likely segregated
COX6CP6,HMGB1P36,RNU6-281P,SAMMSON,FOXP1,FOXP1-AS1
prasad_12_ASD_discovery_cases-case107433
Unknown
Unknown
Unknown
0 genes
quintela_17_DD/ID_discovery_cases-caseID_230
Unknown
Unknown
ILF2P1,RPL17P17,RNU6-787P,MAGI1-AS1,MAGI1,MAGI1-IT1,SLC25A26
sajan_13_ACC/CBLH/PMG_discovery_cases-caseLR08-095
qPCR
Paternal
Unknown
Unknown
RBM43P1,FRMD4B
sajan_13_ACC/CBLH/PMG_discovery_cases-caseLR08-127
Not tested by qPCR
Unknown
Unknown
Unknown
FRMD4B
sanders_11_ASD_discovery_cases-11464.p1
Maternal
Simplex (trio)
NA
LINC02040,MAGI1
sanders_11_ASD_discovery_cases-11549.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11700.p1
Maternal
Simplex (quad-proband matched)
Not segregated
MAGI1
sanders_11_ASD_discovery_cases-12063.p1
Paternal
Simplex (quad-proband matched)
Not segregated
FAM19A4
sanders_11_ASD_discovery_cases-12101.p1
Maternal
Simplex (quad-proband matched)
Not segregated
TMF1
sanders_11_ASD_discovery_cases-12228.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12582.p1
Unknown
Simplex (quad-proband matched)
Segregated
MAGI1
sanders_11_ASD_discovery_cases-13013.p1
Unknown
Simplex (trio)
NA
MITF
szatmari_07_ASD_discovery_cases-NAAR007-B2-8159-101
Karyotyping, qPCR, aCGH, array SNP, or overlap with Mendelian genotype errors
Unknown
NA
NA
COPS8P2,PSMC1P1,SUCLG2,SUCLG2-AS1,FAM19A4,FAM19A1
szatmari_07_ASD_discovery_cases-NAAR007-B4-AU32503
Karyotyping, qPCR, aCGH, array SNP, or overlap with Mendelian genotype errors
Unknown
NA
NA
COPS8P2,PSMC1P1,SUCLG2,SUCLG2-AS1,FAM19A4,FAM19A1
szatmari_07_ASD_discovery_cases-NAAR007-B6-8159-203
Karyotyping, qPCR, aCGH, array SNP, or overlap with Mendelian genotype errors
Unknown
NA
NA
COPS8P2,PSMC1P1,SUCLG2,SUCLG2-AS1,FAM19A4,FAM19A1
van_daalen_11_ASD_discovery_cases-S2
FISH
De novo
Simplex
NA
SCAANT1,ATXN7
Controls
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
engchuan_15_ASD_discovery_controls-controlB253338_1007841376
Unknown
engchuan_15_ASD_discovery_controls-controlB276411_1007854167
Unknown
LINC02040
engchuan_15_ASD_discovery_controls-controlB356202_1007844561
Unknown
engchuan_15_ASD_discovery_controls-controlB466917_1007874508
Unknown
engchuan_15_ASD_discovery_controls-controlB582098_1007870332
Unknown
engchuan_15_ASD_discovery_controls-controlB596934_1007874627
Unknown
LINC02040
engchuan_15_ASD_discovery_controls-controlB653212_1007874323
Unknown
COPS8P2,FAM19A1
engchuan_15_ASD_discovery_controls-controlB772514_1007874267
Unknown
engchuan_15_ASD_discovery_controls-controlHABC_900894_900894
Unknown
LMOD3,FRMD4B
engchuan_15_ASD_discovery_controls-controlHABC_902480_902480
Unknown
RPL17P17,MAGI1-AS1,MAGI1,MAGI1-IT1
engchuan_15_ASD_discovery_controls-controlHABC_902808_902808
Unknown
ILF2P1,MAGI1
kanduri_15_ASD_discovery_controls-control_split1247
Unknown
Intergenic CNV: nearest genes, ADAMTS9-AS2(dist=209440),MAGI1(dist=127310)
kanduri_15_ASD_discovery_controls-control_split1274
Unknown
MAGI1 (intronic)
kanduri_15_ASD_discovery_controls-control_split1402
Unknown
Intergenic CNV: nearest genes, ADAMTS9-AS2(dist=209440),MAGI1(dist=128399)
kanduri_15_ASD_discovery_controls-control_split968
Unknown
Intergenic CNV: nearest genes, ADAMTS9-AS2(dist=209440),MAGI1(dist=127310)
krumm_15_ASD_discovery_controls-control12101.s1
Illumina 1MDuo
Maternal
TMF1
krumm_15_ASD_discovery_controls-control13864.s1
Omni2.5-4v1
Paternal
ARL6IP5,LMOD3
sanders_11_ASD_discovery_controls-11002.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11290.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11391.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11505.s1
Maternal
Simplex (quad)
NA
RPL17P17,MAGI1-AS1,MAGI1,MAGI1-IT1
sanders_11_ASD_discovery_controls-11549.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11685.s1
Both parents
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11700.s1
Maternal
Simplex (quad)
NA
MAGI1
sanders_11_ASD_discovery_controls-12063.s1
Paternal
Simplex (quad)
NA
FAM19A4
sanders_11_ASD_discovery_controls-12101.s1
Maternal
Simplex (quad)
NA
TMF1
No Animal Model Data Available