4q13.3CNV Type: Deletion-Duplication
Largest CNV size: 358600 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.
Deletion
Structural variation of chromosomes in autism spectrum disorder.
Duplication
Functional impact of global rare copy number variation in autism spectrum disorders.
Deletion-Duplication
An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabili...
Deletion-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
Screening of 50 cypriot patients with autism spectrum disorders or autistic features using 400K custom array-CGH.
Duplication
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-Duplication
Reduced transcript expression of genes affected by inherited and de novo CNVs in autism.
Duplication
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-Duplication
Refinement and discovery of new hotspots of copy-number variation associated with autism spectrum disorder.
Duplication
Prospective diagnostic analysis of copy number variants using SNP microarrays in individuals with autism spectrum disorders.
Deletion
Male-biased autosomal effect of 16p13.11 copy number variation in neurodevelopmental disorders.
Duplication
Identification of candidate intergenic risk loci in autism spectrum disorder.
Deletion
Identification of small exonic CNV from whole-exome sequence data and application to autism spectrum disorder.
Deletion-Duplication
Copy number variation in Han Chinese individuals with autism spectrum disorder.
Deletion
Performance of case-control rare copy number variation annotation in classification of autism.
Deletion-Duplication
RYR2, PTDSS1 and AREG genes are implicated in a Lebanese population-based study of copy number variation in autism.
Deletion
Genome-wide analysis of copy number variations identifies PARK2 as a candidate gene for autism spectrum disorder.
Deletion
Paternally inherited cis-regulatory structural variants are associated with autism.
Deletion
Heterozygous ANKRD17 loss-of-function variants cause a syndrome with intellectual disability, speech delay, and dysmorphism
Deletion
Cases
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
brandler_18_ASD_discovery_cases
Affected individuals from the Relating Genes with Adolescent and Child Health (REACH) cohort (362 cases from 311 families; 54 multiplex, 243 simplex) and the Simons Simplex 1 (SSC1) cohort (518 cases from simplex quad families)
880
REACH cohort: 285 cases diagnosed with ASD, 43 cases diagnosed with PDD-NOS, 10 cases diagnosed with ADHD, and 24 cases presenting with speech delay, epilepsy, anxiety, or other related developmental disorders that were classified as cases for bioinformatics analyses; Simons Simplex Collection 1 (SSC1) cohort: all 518 cases were diagnosed with ASD
N/A
N/A
127
2
0
2
chopra_21_ASD/DD/ID_discovery_cases
Individual with a de novo 4q13.3 deletion affecting the ANKRD17 gene from an initial cohort of 34 individuals from 32 families ascertained through an international collaborative effort utilizing GeneMatcher and DECIPHER
1
Case was diagnosed with autism spectrum disorder (diagnosed confirmed by ADOS and CARS) and presented with developmental delay and intellectual disability
6 yrs.
Female
1156152
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
112000
2
0
2
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
246057
7
5
12
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
287222
0
2
2
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
50539
1
0
1
gazzellone_14_ASD_discovery_cases
ASD-affected individuals referred to the Children Development and Behavior Research Center (CDRBC) at Harbin Medical University, China, between January 2007 and June 2011.
104
Diagnosis of ASD made using Autism Behavior Checklist (ABC) and Childhood Autism Rating Scale (CARS)
Mean age at enrollment, 4.31 1.80 yrs.
87.5% Male
23123
3
0
3
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
310000
0
1
1
kaminsky_11_DD/ID/ASD_discovery_cases
Cases from the International Standards for Cytogenomic Arrays (ISCA) consortium
15749
Unexplained developmental delay, intellectual disability, dysmorphic features, multiple congenital anomalies, autism spectrum disorders, or clinical features suggestive of a chromosomal syndrome
NA
NA
1723708
1
4
5
kousoulidou_13_ASD_discovery_cases
Cypriot patients with ASD or autistic features
50
Children with preliminary diagnosis of ASD [reevaluated by clinical geneticist to rule out autistic-like syndromes and retested for ASD based on DSM-IV-TR and ICD-10 using Gilliam Autism Rating Scale-2 (GARS-2)]
Range, 3-18 yrs.
90% Male
242000
0
1
1
krumm_15_ASD_discovery_cases
Probands from the Simons Simplex Collection
2377
Diagnosis of ASD
N/A
N/A
127278
3
2
5
marshall_08_ASD_discovery_cases
Cohort of ASD families (237 simplex, 189 mulitplex) recruited from the Hospital for Sick Children, McMaster Univ., Memorial Univ., and other sites
427
ASD
358600
0
1
1
mazzonetto_24_ASD/DD/ID_discovery_cases
Patients from a total of 15 non-profit organizations and university centers located in different states of Brazil who were enrolled between July 2021 and June 2022 and referred with unexplained neurodevelopmental delay/intellectual disability, autism spectrum disorder (ASD), and/or multiple congenital anomalies.
1363
"95% of individuals in this cohort reported with the HPO phenotype ""Abnormality of the nervous system"" (HP:0000707); the HPO phenotypes ""Intellectual disability"" (HP:0001249; 36%), ""Global developmental delay"" (HP:0001263; 32%), and ""Autism"" (HP:0000717; 28%) were the most frequently reported phenotype subcategories within this subset of individuals."
63.17% Male
250000
0
1
1
nava_13_ASD_discovery_cases
Subjects recruited in the Centre de Reference deficiences intellectuelles de causes rares', the 'Centre Diagnostic Autisme', Pitie-Salpetriere Hospital (Paris, France) or the Fondation Lejeune over a period of 3 years (20092011).
194
Cases assessed with ADI-R
N/A
83.5% Male
81000
1
0
1
nord_11_ASD_discovery_cases
Youth with ASD (as part of mother-father-child trios)
41
ASD
85.4% Male
48491
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
246058
2
1
3
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)
119424
1
4
5
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
233088
4
3
7
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
330268
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
256727
10
3
13
soueid_16_ASD_discovery_cases
Autistic children; 37/41 from 35 fully analyzed families (33 simplex, 2 multiplex)
41
All cases fulfilled DSM-V criteria for autism
Range, 3-18 yrs.
92.68% Male
115000
1
0
1
soueid_16_DD/ID_discovery_cases
Individuals referred to clinical neurogenetics service with non-syndromic developmental delay and intellectual disabilities (DD/ID) or rare neurological syndromes
35
Cases present with non-syndromic developmental delay and intellectual disabilities (DD/ID) or rare neurological syndromes
N/A
N/A
0
0
0
0
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
152000
2
0
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
18350
0
2
2
walker_13_ASD_discovery_cases
Unrelated ASD probands previously described in Lionel et al., 2011 and Pinto et al., 2010 CNV reports
1491
Diagnosis of ASD based on gold-standard instruments including ADI and ADOS.
N/A
N/A
119381
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
591
1
0
1
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
229384
3
3
6
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
kousoulidou_13_ASD_discovery_controls
Control cohort consisting of 50 normal participants (36% male) older than 30 years of age with at least two biological children with no mental, neurological, or developmental disorder; and 80 normal individuals having children with syndromic or nonsyndromic intellectual disability, developmental delay, or rare neurological syndromes.
130
Controls
N/A
N/A
0
0
0
0
krumm_15_ASD_discovery_controls
Unaffected siblings from quad families from the Simons Simplex Collection
1786
Control
N/A
N/A
127278
2
1
3
marshall_08_ASD_discovery_controls_1
German PopGen project and entries from Database of Genomic Variants
500
Controls
0
0
0
0
marshall_08_ASD_discovery_controls_2
Non-disease controls from Ontario population
1152
Controls
0
0
0
0
nord_11_ASD_discovery_controls
Samples from 367 total control individuals (319 European American, 48 African American) used to test for differences in rare CNV prevalence compared with autism cases
123
Controls (no history of psychiatric symptoms by self-report)
30 yrs.
0
0
0
0
poultney_13_ASD_discovery_controls
Controls matched for European ancestry from NIMH and CEPH retained after filtering (original cohort size of 379 controls)
260
Control
N/A
47.49% Male (before filtering)
50862
2
0
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)
233088
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.
82456
4
1
5
soueid_16_ASD_discovery_controls
Control cohort of normal participants
37
Control
N/A
51.35% Male
0
0
0
0
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
walker_13_ASD_discovery_controls
Control samples from the SAGE cohort (n=1287), from the Ottawa Heart Institute (n=1234), and from the POPGEN collection (n=1123)
3644
Control
N/A
N/A
119381
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
591
0
0
0
Cases
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
brandler_18_ASD_discovery_cases
N/A
WGS
Illumina HiSeq X10 or HiSeq 2500
ForestSV, Lumpy, Manta, Mobster, SV2
None
chopra_21_ASD/DD/ID_discovery_cases
Unknown
aCGH
Agilent SurePrint G3 4x180K
None
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
gai_11_ASD_discovery_cases
European
Solid phase hybridization
Illumina Infinium II HumanHap550 BeadChip
BeadStudio 3.0
None
gai_11_ASD_replication_cases
European
Solid phase hybridization
Illumina Infinium II HumanHap550 BeadChip
BeadStudio 3.0
None
gazzellone_14_ASD_discovery_cases
Han Chinese
Array SNP
Affymetrix CytoScan HD
ChAS, iPattern, Nexus, Partek
None
girirajan_13a_ASD_discovery_cases
NA
aCGH
Custom microarray with a high density of probes targeted to 1,367 regions with a susceptible genomic architecture
ADM-2
Agilent Genomic Workbench
None
kaminsky_11_DD/ID/ASD_discovery_cases
NA
aCGH
Agilent 44K, Agilent 105K
Feature Extraction, DNA Analytics
FISH, qPCR, MLPA, aCGH, standard G-banded chromosome analysis
kousoulidou_13_ASD_discovery_cases
Cyprus
aCGH
Agilent 400K custom array-CGH
Agilent Feature Extraction 9.1, Nexus Copy Number 5.1
qPCR
krumm_15_ASD_discovery_cases
N/A
WES
CoNIFER, XHMM
Solid phase hybridization (Illumina 1M, 1 M Duo, or Omni 2.5)
marshall_08_ASD_discovery_cases
90% European, 4.5% European-mixed, 4.5% Asian, 0.07% African
Array SNP, karotyping
Affymetrix 500K
dChip, CNAG, GEMCA
qPCR, qmPCR
mazzonetto_24_ASD/DD/ID_discovery_cases
Brazil
Low-pass WGS
Illumina NovaSeq 6000
SNP-FASST2 (HMM)
BioDiscovery NxClinical
nava_13_ASD_discovery_cases
France
Solid phase hybridization
Illumina cytoSNP-12, Illumina 660W-Quad, Illumina 370CNV-Quad
GenomeStudio v.2011.1, CNVPartition v.3.1.6
None
nord_11_ASD_discovery_cases
29 European American, 3 Asian American, 2 Hispanic, 2 African American, 5 unknown ancestry
aCGH
NimbleGen HD2
Sliding-window algorithm, ~10 kb minumum size threshold
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)
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
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
soueid_16_ASD_discovery_cases
Lebanon
Array SNP
Affymetrix 2.7M, Affymetrix CytoScan
Affymetrix ChAS
None
soueid_16_DD/ID_discovery_cases
Lebanon
Array SNP
Affymetrix 2.7M, Affymetrix CytoScan
Affymetrix ChAS
None
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
walker_13_ASD_discovery_cases
N/A
Array SNP, solid phase hybridization
Illumina 1M, Affymetrix 6.0
QuantiSNP, PennCNV, Birdsuite, iPattern, Affymetrix Genotyping Console
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
kaminsky_11_DD/ID/ASD_discovery_controls
NA
aCGH
Agilent 44K, Agilent 105K
Feature Extraction, DNA Analytics
kousoulidou_13_ASD_discovery_controls
Cyprus
aCGH
Agilent 400K custom array-CGH
Agilent Feature Extraction 9.1, Nexus Copy Number 5.1
krumm_15_ASD_discovery_controls
N/A
WES
CoNIFER, XHMM
Solid phase hybridization (Illumina 1M, 1 M Duo, or Omni 2.5)
marshall_08_ASD_discovery_controls_1
European
Array SNP, karotyping
Affymetrix 500K
dChip, CNAG, GEMCA
marshall_08_ASD_discovery_controls_2
European
Array SNP, karotyping
Affymetrix 500K
dChip, CNAG, GEMCA
nord_11_ASD_discovery_controls
aCGH
NimbleGen HD2
Sliding-window algorithm, ~10 kb minumum size threshold
None
poultney_13_ASD_discovery_controls
European
WES
Agilent SureSelect Human All Exon v.2
XHMM
None
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
soueid_16_ASD_discovery_controls
Lebanon
Array SNP
Affymetrix 2.7M, Affymetrix CytoScan
Affymetrix ChAS
None
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
walker_13_ASD_discovery_controls
N/A
Array SNP, solid phase hybridization
Illumina 1M, Affymetrix 6.0
QuantiSNP, PennCNV, Birdsuite, iPattern, Affymetrix Genotyping Console
None
yin_16_ASD_discovery_controls
Han Chinese
Array SNP
Affymetrix 6.0
Affymetrix Genotyping Console v.4.1
None
Cases
Patient ID
Author, Year
Age
Gender
Primary Diagnosis
Clinical Profile
Cognitive Profile
CNV Start
CNV End
CNV Size
Genome Build
Type Method
Validation
brandler_18_ASD_discovery_cases-caseMT_178.3
N/A
M
ASD
Case from REACH cohort
71186534
71186661
128
GRCh38
Deletion
No
brandler_18_ASD_discovery_cases-caseMT_178.4
N/A
M
PDD-NOS
Case from REACH cohort
71186534
71186661
128
GRCh38
Deletion
No
chopra_21_ASD/DD/ID_discovery_cases-case6
6 yrs.
F
ASD, developmental delay, and intellectual disability
Birth/neonatal history: dizygotic twin pregnancy conceived by ICSI, intrauterine growth retardation, premature birth (34 weeks), congenital microcephaly (birth HC -2.3 SD, current HC -3.5 SD). Developmental milestones: delayed ability to walk (24 months). Language and communication evaluation: absent speech. Motor and musculoskeletal evaluation: tiptoe walking. Behavioral/psychiatric evaluation: autism spectrum disorder (confirmed by ADOS and CARS). EEG: abnormal EEG. Brain imaging: dilated Virchow-Robin spaces. Additional medical history: a diagnosis of MCADD on newborn acylcarnitine profile. Dysmorphic features: deep-set eyes, full cheeks.
Moderate intellectual disability (FSIQ score of 54 at 3 years)
72437463
73593614
1156152
GRCh38
Deletion
digregorio_17_DD/ID_discovery_cases-DECIPHER_299798
N/A
M
Developmental delay/intellectual disability
70297081
70409607
112527
GRCh38
Deletion
No
digregorio_17_DD/ID_discovery_cases-DECIPHER_299923
N/A
M
Developmental delay/intellectual disability
70297081
70409607
112527
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case14020_400
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
70296786
70416167
119382
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case14133_2310
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
70296786
70416167
119382
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case14186_3050
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
70296786
70416167
119382
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case14229_3630
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
69718320
69749590
31271
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case14399_5080
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
72953973
73183357
229385
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case3311_3
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
72658192
72790674
132483
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case3454_3
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
74295107
74443752
148646
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case4240_1
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
74852500
74943743
91244
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case4280_1
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
74836286
74866903
30618
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case5030_4
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
70296786
70416167
119382
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case5284_3
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
72953973
73200030
246058
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case5300_3
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
70296786
70430316
133531
GRCh38
Deletion
No
gai_11_ASD_discovery_cases-AU1039302
Autism
73971106
74258327
287222
Unknown
Duplication
No
gai_11_ASD_discovery_cases-AU1039303
Autism
73971106
74258327
287222
Unknown
Duplication
No
gai_11_ASD_replication_cases-AU017504
Autism
73926837
73977375
50539
Unknown
Deletion
No
gazzellone_14_ASD_discovery_cases-case534-3
N/A
M
ASD
ASD; no other clinical information provided
N/A
70361929
70385052
23124
GRCh38
Deletion
No
gazzellone_14_ASD_discovery_cases-case577-3
N/A
M
ASD
ASD; no other clinical information provided
N/A
70361929
70385052
23124
GRCh38
Deletion
No
gazzellone_14_ASD_discovery_cases-case672-3
N/A
M
ASD
ASD; no other clinical information provided
N/A
70361929
70385052
23124
GRCh38
Deletion
No
girirajan_13a_ASD_discovery_cases-AU1039302
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
72885419
73195419
310001
GRCh38
Duplication
No
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001797
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
73510905
73978175
467271
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002166
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
70072741
71612174
1539434
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002500
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
70675977
72158855
1482879
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002514
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
69758599
70193037
434439
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004339
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
70727833
72040353
1312521
GRCh38
Duplication
Yes
kousoulidou_13_ASD_discovery_cases-patient14
N/A
M
ASD and ID
ASD
Intellectual disability
72948248
73191050
242803
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_cases-case11497.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Trio
73061812
73161348
99537
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_cases-case12998.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Trio
70362092
70366996
4905
GRCh38
Deletion
Yes
krumm_15_ASD_discovery_cases-case13805.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
70335039
70410075
75037
GRCh38
Deletion
Yes
krumm_15_ASD_discovery_cases-case13901.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
71440615
71567893
127279
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_cases-case14093.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
69638898
69647644
8747
GRCh38
Deletion
Yes
marshall_08_ASD_discovery_cases-SK0057-003
NA
M
ASD
NA
NA
72874948
73233548
358601
GRCh38
Duplication
Yes
mazzonetto_24_ASD/DD/ID_discovery_cases-caseDECIPHER530922
M
Developmental delay
Global developmental delay (HP:0001263), poor speech (HP:0002465), abnormal facial shape (HP:0001999)
72929913
73179912
250000
GRCh38
Duplication
No
nava_13_ASD_discovery_cases-Fam938Proband1159
N/A
F
ASD
Additional clinical profile info N/A
ID
70319133
70400123
80991
GRCh38
Deletion
No
nord_11_ASD_discovery_cases-226-1
ASD
72065713
72114203
48491
Unknown
Duplication
No
pinto_10_ASD_discovery_cases-case5030_4
NA
M
ASD
NA
NA
70296786
70416167
119382
GRCh38
Deletion
Yes
pinto_10_ASD_discovery_cases-case5284_3
NA
M
ASD
NA
NA
72953973
73200030
246058
GRCh38
Duplication
Yes
pinto_10_ASD_discovery_cases-case5300_3
NA
M
ASD
NA
NA
70296786
70430316
133531
GRCh38
Deletion
Yes
poultney_13_ASD_discovery_cases-case04HI2879A
N/A
F
ASD
ASD case from AGRE (AGRE ID AU1039302; NDAR ID NDAR_INVCT450YAQ)
73058112
73177535
119424
GRCh38
Duplication
No
poultney_13_ASD_discovery_cases-case05HI3629A
N/A
F
ASD
ASD case from AGRE (AGRE ID AU1368302; NDAR ID NDAR_INVFL897HKN)
70784794
70794896
10103
GRCh38
Duplication
No
poultney_13_ASD_discovery_cases-case98HI0209A
N/A
M
ASD
ASD case from AGRE (AGRE ID AU020703; NDAR ID NDAR_INVCU793UL4)
70602622
70634570
31949
GRCh38
Deletion
No
poultney_13_ASD_discovery_cases-case99HI0807A
N/A
M
ASD
ASD case from AGRE (AGRE ID AU055105; NDAR ID NDAR_INVME794HY9)
73058112
73177535
119424
GRCh38
Duplication
No
poultney_13_ASD_discovery_cases-caseHI4750
N/A
M
ASD
ASD case from AGRE (AGRE ID AU1648302; NDAR ID NDAR_INVRY057WMU)
70602622
70635896
33275
GRCh38
Duplication
No
prasad_12_ASD_discovery_cases-case107433
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
71197187
71318278
121092
Unknown
Deletion
No
prasad_12_ASD_discovery_cases-case117368L
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
74035732
74268819
233088
Unknown
Duplication
No
prasad_12_ASD_discovery_cases-case162340L
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
74035732
74268819
233088
Unknown
Duplication
No
prasad_12_ASD_discovery_cases-case29116
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
71197187
71318278
121092
Unknown
Deletion
No
prasad_12_ASD_discovery_cases-case78954
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
70523001
70551281
28281
Unknown
Deletion
No
prasad_12_ASD_discovery_cases-case90207
NA
F
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
70523001
70551281
28281
Unknown
Deletion
No
prasad_12_ASD_discovery_cases-case96332
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
74690006
74732930
42925
Unknown
Duplication
No
sajan_13_ACC/CBLH/PMG_discovery_cases-case1170-0
N/A
N/A
ACC-CBLH-PMG
Diagnosis of agenesis of the corpus callosum (ACC), cerebellar hypoplasia (CBLH), and polymicrogyria (PMG). ASD: no. Seizures: yes.
Developmental delay: yes. Intellectual disability: unknown.
73910501
74240768
330268
GRCh38
Duplication
Yes
sanders_11_ASD_discovery_cases-11109.p1
4.5
F
Autism
NA
Full-scale IQ, 86; non-verbal IQ, 96; verbal IQ 71
73048061
73058699
10639
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11158.p1
10.7
M
Autism
NA
Full-scale IQ, 55; non-verbal IQ, 71; verbal IQ, 39
70721323
70740341
19019
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11497.p1
6.5
M
Autism
NA
Full-scale IQ, 105; non-verbal IQ, 102; verbal IQ, 109
72953973
73210700
256728
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11598.p1
5.3
M
Autism
NA
Full-scale IQ, 71; non-verbal IQ, 68; verbal IQ, 87
74831557
74866903
35347
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11917.p1
8
M
Autism
NA
Full-scale IQ, 98; non-verbal IQ, 115; verbal IQ, 71
72772144
72854600
82457
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12184.p1
12.9
F
Autism
NA
Full-scale IQ, 28; non-verbal IQ, 31; verbal IQ, 21
72126702
72138174
11473
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12260.p1
5.3
M
Autism
NA
Full-scale IQ, 106; non-verbal IQ, 103; verbal IQ, 109
70815237
70831793
16557
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12260.p1
5.3
M
Autism
NA
Full-scale IQ, 106; non-verbal IQ, 103; verbal IQ, 109
70721323
70753517
32195
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12948.p1
17.9
F
Autism
NA
Full-scale IQ, 65; non-verbal IQ, 57; verbal IQ, 81
70560824
70615392
54569
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12998.p1
4.3
M
Autism
NA
Full-scale IQ, 109; non-verbal IQ, 116; verbal IQ, 93
70363334
70396196
32863
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-13136.p1
6.5
M
Autism
NA
Full-scale IQ, 42; non-verbal IQ, 53; verbal IQ, 31
74365213
74382827
17615
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-13144.p1
6.5
M
Autism
NA
Full-scale IQ, 112; non-verbal IQ, 119; verbal IQ, 95
74490848
74556396
65549
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-13195.p1
8.3
M
Autism
NA
Full-scale IQ, 76; non-verbal IQ, 88; verbal IQ, 63
74365213
74382827
17615
GRCh38
Deletion
No
soueid_16_ASD_discovery_cases-caseCLIN29
N/A
M
Autism
Case fulfilled DSM-V criteria for autism; no other information available
75405778
75521036
115000
GRCh37
Deletion
No
szatmari_07_ASD_discovery_cases-NAAR033-C1-3257.002
NA
ASD
NA
NA
70172823
70324823
152001
GRCh38
Deletion
Yes
szatmari_07_ASD_discovery_cases-NAAR033-E1-3257.005
NA
ASD
NA
NA
70172823
70324823
152001
GRCh38
Deletion
Yes
tropeano_13_DD/ASD_discovery_cases-case44
4 yrs.
M
Developmental delay
Motor delay, speech and langauge delay
Severe global developmental delay
70033082
70051432
18351
GRCh38
Triplication
No
walker_13_ASD_discovery_cases-case8-14186-3050
N/A
M
ASD
N/A
N/A
70296786
70416167
119382
GRCh38
Deletion
No
yin_16_ASD_discovery_cases-case202
N/A
N/A
ASD
Cases diagnosed with autistic disorder according to DSM-IV and confirmed by using the Chinese version of ADI-R.
70361495
70362085
591
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-controlB312630_0067942574
N/A
N/A
Control
No previous psychiatric history
73071816
73252024
180209
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlB505778_1007874875
N/A
N/A
Control
No previous psychiatric history
72953973
73183357
229385
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlB582658_1007872312
N/A
N/A
Control
No previous psychiatric history
70296786
70416167
119382
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlB590669_1007852596
N/A
N/A
Control
No previous psychiatric history
74219929
74339416
119488
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlB627204_1007846383
N/A
N/A
Control
No previous psychiatric history
74142734
74259123
116390
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlHABC_901241_901241
N/A
N/A
Control
No previous psychiatric history
72158010
72310889
152880
GRCh38
Duplication
No
krumm_15_ASD_discovery_controls-control13805.s1
N/A
Male
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
70335039
70399336
64298
GRCh38
Deletion
Yes
krumm_15_ASD_discovery_controls-control13901.s1
N/A
Male
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
71440615
71567893
127279
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_controls-control14093.s1
N/A
Male
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
69638898
69647644
8747
GRCh38
Deletion
Yes
poultney_13_ASD_discovery_controls-control04C31881A
N/A
F
Control
NIMH Control (NIMH ID 26099)
73440600
73488761
48162
GRCh38
Deletion
No
poultney_13_ASD_discovery_controls-control04C37411A
N/A
F
Control
NIMH Control (NIMH ID 30960)
74174535
74225396
50862
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11917.s1
4.3
F
Control (matched sibling)
NA
NA
72772144
72854600
82457
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12743.s1
12
M
Control (matched sibling)
NA
NA
73235799
73250295
14497
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12939.s1
5.7
M
Control (matched sibling)
NA
NA
70721323
70753890
32568
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-13076.s1
19.5
F
Control (matched sibling)
NA
NA
70721323
70753890
32568
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-13144.s1
4.9
M
Control (matched sibling)
NA
NA
74490848
74556396
65549
GRCh38
Duplication
No
Cases
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
brandler_18_ASD_discovery_cases-caseMT_178.3
Not available
Paternal
SLC4A4
brandler_18_ASD_discovery_cases-caseMT_178.4
Not available
Paternal
SLC4A4
chopra_21_ASD/DD/ID_discovery_cases-case6
De novo
HNRNPA1P67,RNU4ATAC9P,RNU6ATAC5P,HMGA1P2,COX18,AFP,AFM,RASSF6,ANKRD17,LINC02499,ADAMTS3,ALB
digregorio_17_DD/ID_discovery_cases-DECIPHER_299798
Maternal
SMR3A,CABS1,OPRPN,SMR3B
digregorio_17_DD/ID_discovery_cases-DECIPHER_299923
Maternal
SMR3A,CABS1,OPRPN,SMR3B
engchuan_15_ASD_discovery_cases-case14020_400
Unknown
SMR3A,CABS1,OPRPN,SMR3B
engchuan_15_ASD_discovery_cases-case14133_2310
Unknown
SMR3A,CABS1,OPRPN,SMR3B
engchuan_15_ASD_discovery_cases-case14186_3050
Unknown
SMR3A,CABS1,OPRPN,SMR3B
engchuan_15_ASD_discovery_cases-case14229_3630
Unknown
SULT1B1
engchuan_15_ASD_discovery_cases-case14399_5080
Unknown
RNU4ATAC9P,RNU6ATAC5P,HMGA1P2,COX18,ANKRD17
engchuan_15_ASD_discovery_cases-case3311_3
Unknown
engchuan_15_ASD_discovery_cases-case3454_3
Unknown
EPGN,EREG,MTHFD2L
engchuan_15_ASD_discovery_cases-case4240_1
Unknown
HSPE1P23,PARM1
engchuan_15_ASD_discovery_cases-case4280_1
Unknown
engchuan_15_ASD_discovery_cases-case5030_4
Unknown
SMR3A,CABS1,OPRPN,SMR3B
engchuan_15_ASD_discovery_cases-case5284_3
Unknown
RNU4ATAC9P,RNU6ATAC5P,HMGA1P2,COX18,ANKRD17
engchuan_15_ASD_discovery_cases-case5300_3
Unknown
SMR3A,CABS1,OPRPN,SMR3B
gai_11_ASD_discovery_cases-AU1039302
Inherited
COX18, ANKRD17
gai_11_ASD_discovery_cases-AU1039303
Inherited
COX18, ANKRD17
gai_11_ASD_replication_cases-AU017504
Inherited
0 genes
gazzellone_14_ASD_discovery_cases-case534-3
Unknown
Unknown
Unknown
SMR3A,SMR3B
gazzellone_14_ASD_discovery_cases-case577-3
Unknown
Unknown
Unknown
SMR3A,SMR3B
gazzellone_14_ASD_discovery_cases-case672-3
Unknown
Unknown
Unknown
SMR3A,SMR3B
girirajan_13a_ASD_discovery_cases-AU1039302
Unknown
Multiplex
Unknown
RNU4ATAC9P,RNU6ATAC5P,HMGA1P2,COX18,ANKRD17
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001797
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Maternal
Unknown
Unknown
CXCL8,PPBPP1,PF4V1,CXCL1,HNRNPA1P55,CXCL1P1,RASSF6,CXCL6,LINC02499
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002166
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
ODAM,FDCSP,CSN3,SMR3A,AMTN,UTP3,RNU6-520P,RNU6-784P,RNU6-891P,LDHAL6EP,CSN1S2AP,PRR27,CABS1,OPRPN,MUC7,AMBN,JCHAIN,GRSF1,DCK,SMR3B,ENAM,RUFY3,MOB1B,SLC4A4
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002500
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
UTP3,RNU6-520P,RNU6-784P,RNU6-891P,LDHAL6EP,RNA5SP163,JCHAIN,GRSF1,DCK,GC,ENAM,RUFY3,MOB1B,NPFFR2,SLC4A4
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002514
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Maternal
Unknown
Unknown
STATH,HTN3,SULT1D1P,SULT1E1,CSN1S1,CSN2,HTN1,CSN1S2AP,PRR27,SULT1B1
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004339
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
RNU6-891P,LDHAL6EP,RNA5SP163,GRSF1,DCK,GC,RUFY3,MOB1B,NPFFR2,SLC4A4
kousoulidou_13_ASD_discovery_cases-patient14
qPCR
Maternal
Unknown
Unknown
RNU4ATAC9P,RNU6ATAC5P,HMGA1P2,COX18,ANKRD17
krumm_15_ASD_discovery_cases-case11497.p1
Illumina 1M
Maternal
Simplex
Segregated
HMGA1P2,COX18,ANKRD17
krumm_15_ASD_discovery_cases-case12998.p1
Illumina 1MDuo
Paternal
Simplex
Segregated
SMR3A
krumm_15_ASD_discovery_cases-case13805.p1
Omni2.5-4v1
Paternal
Simplex
Not segregated (CNV in unaffected sibling)
SMR3A,CABS1,OPRPN,SMR3B
krumm_15_ASD_discovery_cases-case13901.p1
Omni2.5-4v1
Paternal
Simplex
Not segregated (CNV in unaffected sibling)
SLC4A4
krumm_15_ASD_discovery_cases-case14093.p1
Omni2.5-4v1
Paternal
Simplex
Not segregated (CNV in unaffected sibling)
UGT2A1,UGT2A2
marshall_08_ASD_discovery_cases-SK0057-003
qPCR, qmPCR
Unknown
NA
NA
RNU4ATAC9P,RNU6ATAC5P,HMGA1P2,COX18,ANKRD17
mazzonetto_24_ASD/DD/ID_discovery_cases-caseDECIPHER530922
Unknown
HMGA1P2,COX18,RNU6ATAC5P,RNU4ATAC9P,ANKRD17
nava_13_ASD_discovery_cases-Fam938Proband1159
Unknown
Simplex
Unknown
SMR3A,CABS1,OPRPN,SMR3B
nord_11_ASD_discovery_cases-226-1
Maternal
DCK,MOBKL1A
pinto_10_ASD_discovery_cases-case5030_4
Agilent1M
paternal
NA
NA
SMR3A,CABS1,OPRPN,SMR3B
pinto_10_ASD_discovery_cases-case5284_3
Agilent1M
maternal
NA
NA
RNU4ATAC9P,RNU6ATAC5P,HMGA1P2,COX18,ANKRD17
pinto_10_ASD_discovery_cases-case5300_3
Agilent1M-Paternal
paternal
NA
NA
SMR3A,CABS1,OPRPN,SMR3B
poultney_13_ASD_discovery_cases-case04HI2879A
Unknown
Unknown (likely multiplex/AGRE)
Unknown
HMGA1P2,COX18,ANKRD17
poultney_13_ASD_discovery_cases-case05HI3629A
Unknown
Unknown (likely multiplex/AGRE)
Unknown
RUFY3
poultney_13_ASD_discovery_cases-case98HI0209A
Unknown
Unknown (likely multiplex/AGRE)
Unknown
AMBN,ENAM
poultney_13_ASD_discovery_cases-case99HI0807A
Unknown
Unknown (likely multiplex/AGRE)
Unknown
HMGA1P2,COX18,ANKRD17
poultney_13_ASD_discovery_cases-caseHI4750
Unknown
Unknown (likely multiplex/AGRE)
Unknown
AMBN,ENAM
prasad_12_ASD_discovery_cases-case107433
Unknown
Unknown
Unknown
PROL1,CABS1,SMR3B,SMR3A
prasad_12_ASD_discovery_cases-case117368L
Unknown
Unknown
Unknown
COX18,ANKRD17
prasad_12_ASD_discovery_cases-case162340L
Unknown
Unknown
Unknown
COX18,ANKRD17
prasad_12_ASD_discovery_cases-case29116
Unknown
Unknown
Unknown
PROL1,CABS1,SMR3B,SMR3A
prasad_12_ASD_discovery_cases-case78954
Unknown
Unknown
Unknown
UGT2A2,UGT2A1
prasad_12_ASD_discovery_cases-case90207
Unknown
Unknown
Unknown
UGT2A2,UGT2A1
prasad_12_ASD_discovery_cases-case96332
Unknown
Unknown
Unknown
RASSF6
sajan_13_ACC/CBLH/PMG_discovery_cases-case1170-0
qPCR
Maternal
Unknown
Unknown
HNRNPA1P55,CXCL1P1,PF4,PPBP,CXCL5,RN7SL218P,CXCL3,PPBPP2,CXCL2,MTHFD2L
sanders_11_ASD_discovery_cases-11109.p1
Maternal
Simplex (quad-proband unmatched)
Unknown
COX18
sanders_11_ASD_discovery_cases-11158.p1
Unknown
Simplex (quad-proband matched)
Segregated
RUFY3
sanders_11_ASD_discovery_cases-11497.p1
Maternal
Simplex (quad-proband matched)
Segregated
RNU4ATAC9P,RNU6ATAC5P,HMGA1P2,COX18,ANKRD17
sanders_11_ASD_discovery_cases-11598.p1
Paternal
Simplex (trio)
NA
sanders_11_ASD_discovery_cases-11917.p1
Paternal
Simplex (quad-proband matched)
Not segregated
HNRNPA1P67
sanders_11_ASD_discovery_cases-12184.p1
Unknown
Simplex (quad-proband matched)
Not segregated
NPFFR2
sanders_11_ASD_discovery_cases-12260.p1
Unknown
Simplex (trio)
NA
GRSF1
sanders_11_ASD_discovery_cases-12260.p1
Unknown
Simplex (trio)
NA
RUFY3
sanders_11_ASD_discovery_cases-12948.p1
Maternal
Simplex (trio)
NA
AMBN
sanders_11_ASD_discovery_cases-12998.p1
Paternal
Simplex (trio)
NA
SMR3A,SMR3B
sanders_11_ASD_discovery_cases-13136.p1
Maternal
Simplex (quad-proband matched)
Not segregated
EREG
sanders_11_ASD_discovery_cases-13144.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-13195.p1
Paternal
Simplex (quad-proband matched)
Not segregated
EREG
soueid_16_ASD_discovery_cases-caseCLIN29
De novo
Simplex
AREG
szatmari_07_ASD_discovery_cases-NAAR033-C1-3257.002
Karyotyping, qPCR, aCGH, array SNP, or overlap with Mendelian genotype errors
Unknown
NA
NA
ODAM,FDCSP,CSN3,PRR27
szatmari_07_ASD_discovery_cases-NAAR033-E1-3257.005
Karyotyping, qPCR, aCGH, array SNP, or overlap with Mendelian genotype errors
Unknown
NA
NA
ODAM,FDCSP,CSN3,PRR27
tropeano_13_DD/ASD_discovery_cases-case44
Unknown
HTN3,HTN1
walker_13_ASD_discovery_cases-case8-14186-3050
Unknown
Simplex
Unknown
SMR3A,CABS1,OPRPN,SMR3B
yin_16_ASD_discovery_cases-case202
Unknown
Unknown
Unknown
SMR3A
Controls
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
engchuan_15_ASD_discovery_controls-controlB312630_0067942574
Unknown
HMGA1P2,ANKRD17
engchuan_15_ASD_discovery_controls-controlB505778_1007874875
Unknown
RNU4ATAC9P,RNU6ATAC5P,HMGA1P2,COX18,ANKRD17
engchuan_15_ASD_discovery_controls-controlB582658_1007872312
Unknown
SMR3A,CABS1,OPRPN,SMR3B
engchuan_15_ASD_discovery_controls-controlB590669_1007852596
Unknown
EPGN,MTHFD2L
engchuan_15_ASD_discovery_controls-controlB627204_1007846383
Unknown
MTHFD2L
engchuan_15_ASD_discovery_controls-controlHABC_901241_901241
Unknown
ADAMTS3
krumm_15_ASD_discovery_controls-control13805.s1
Omni2.5-4v1
Paternal
SMR3A,CABS1,OPRPN,SMR3B
krumm_15_ASD_discovery_controls-control13901.s1
Omni2.5-4v1
Paternal
SLC4A4
krumm_15_ASD_discovery_controls-control14093.s1
Omni2.5-4v1
Paternal
UGT2A1,UGT2A2
poultney_13_ASD_discovery_controls-control04C31881A
Unknown
AFP,AFM
poultney_13_ASD_discovery_controls-control04C37411A
Unknown
MTHFD2L
sanders_11_ASD_discovery_controls-11917.s1
Paternal
Simplex (quad)
NA
HNRNPA1P67
sanders_11_ASD_discovery_controls-12743.s1
Maternal
Simplex (quad)
NA
ANKRD17
sanders_11_ASD_discovery_controls-12939.s1
Unknown
Simplex (quad)
NA
RUFY3
sanders_11_ASD_discovery_controls-13076.s1
Unknown
Simplex (quad)
NA
RUFY3
sanders_11_ASD_discovery_controls-13144.s1
Paternal
Simplex (quad)
NA
No Animal Model Data Available