14q21.3CNV Type: Deletion-Duplication
Largest CNV size: 288518 bp
Statistics Box:
Number of Reports: 14
Number of Reports: 14
Summary Information
CNVs at this locus frequently reside within or include at least part of the MDGA2 gene.
Additional Locus Information
References
Major Reports
Title
Author, Year
Report Class
CNV Type
Structural variation of chromosomes in autism spectrum disorder.
Deletion
Genome-wide analyses of exonic copy number variants in a family-based study point to novel autism susceptibility genes.
Deletion
Functional impact of global rare copy number variation in autism spectrum disorders.
Deletion-Duplication
An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabili...
Deletion-Duplication
Epileptic encephalopathies of the Landau-Kleffner and continuous spike and waves during slow-wave sleep types: genomic dissection makes the link wi...
Deletion-Duplication
Homozygous deletions implicate non-coding epigenetic marks in Autism spectrum disorder
Deletion
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-Duplication
Refinement and discovery of new hotspots of copy-number variation associated with autism spectrum disorder.
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.
Deletion
Detection of clinically relevant copy-number variants by exome sequencing in a large cohort of genetic disorders.
Deletion
Paternally inherited cis-regulatory structural variants are associated with autism.
Deletion
Cases
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
brandler_18_ASD_replication_cases
Affected individuals from MSSNG cohort (1395 cases from 1187 families) and the Simons Simplex 2 (SSC2) cohort (584 cases from simplex quad families)
1979
Cases diagnosed with ASD
N/A
N/A
8913
1
0
1
bucan_09_ASD_discovery_cases
Individuals from 912 multiplex families (AGRE cohort)
3832
ASD
226468
8
0
8
bucan_09_ASD_replication_cases
Unrelated ASD patients (ACC cohort). 54% simplex, 46% multiplex
859
828 diagnosed with autism, 31 with other ASDs
Range, 2-21
81.8% Male
288518
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
671698
30
12
42
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
495773
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
557000
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
603089
2
1
3
kanduri_15_ASD_discovery_cases
Autistic cases from an initial sample of 83 Finnish families comprising 257 family members following quality control
80
Diagnosis of ASD based on DSM-IV, 4th edition, or ICD-10 criteria; patients screened based on Childhood Autism Rating Scale (CARS), Asperger Syndrome Screening Questionnaire, and Asperger's Syndrome Diagnostic Interview.
N/A
N/A
7225
2
0
2
lesca_12_EP_discovery_cases
Epilepsy patients collected at four French hospitals from 2009: Strasbourg Univ. Hospital (n=40), Lyons Univ. Hospital (n=18), Henri Gastaut Hospital (St. Paul Centre) in Marseille (n=2), and Reims American Memorial Hospital (n=1).
61
Epilepsy/epileptic encephalopathy. 41 patients with continuous spike and wave during slow-wave sleep syndrome (CSWSS), 20 patients with Landau-Kleffner syndrome (LKS). 12 (out of 57) patients displayed autistic features; ADHD features (hyperactivity, attention deficit and/or aggressiveness) reported in 41/58 patients,
Mean age of diagnosis: 5.6 yrs. (range, 1-14 yrs.)
61% Male
637000
1
1
2
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
115838
1
0
1
pfundt_16_nonNDD_discovery_cases
Subset of a cohort of 2,603 patients affected by genetic disorders for which exome seqeuncing was performed in a diagnostic setting
1430
Craniofacial anomalies (n=31), disorders of sexual development (n=38), immunodeficiency (n=24), metabolic disorders (n=34), hereditary cancer (n=74), renal disorders (n=56), complex phenotypes (n=183), mitochondrial disorders (n=142), muscle disorders (n=171), deafness (n=223), movement disorders (n=217), or blindness (n=237)
N/A
N/A
199616
1
0
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
113827
2
2
4
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
738956
2
1
3
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
206953
107
7
114
schmitz-abe_20_ASD_discovery_cases
ASD probands rom 187 families from the Homozygosity Mapping Collaborative of Autism (HMCA); 22% of families had more than one affected child, and 66% of families were consanguineous.
255
Diagnosis of autism or ASD made by a neurologist, child psychiatrist, or psychologist; DSM-IV-R criteria confirmed in all individuals with an Autism diagnosis
N/A
N/A
2601
2
0
2
Controls
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
bucan_09_ASD_discovery_controls
1070 healthy children (CHOP), 418 neurologically normal adults and seniors (NINDS control collection)
1488
Controls
226468
0
0
0
bucan_09_ASD_replication_controls
Children of Caucasian ancestry with no history of ASDs (CHOP)
1051
Controls
226468
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
417277
34
11
45
guo_17_ASD_discovery_controls
Control subjects screened for rare, large (>1 Mb) CNVs
988
No history of ASD or any other psychiatric diseases; no family history of psychiatric, neurological or autoimmune diseases
Mean, 34.3 years
N/A
1357673
0
1
1
kaminsky_11_DD/ID/ASD_discovery_controls
Controls from the International Standards for Cytogenomic Arrays (ISCA) consortium
10118
Controls
NA
NA
NA
NA
NA
NA
kanduri_15_ASD_discovery_controls
Unrelated Finnish samples from the cohort of Health 2000 survey from an initial sample of 288 individuals following quality control
269
Controls screened for DSM-IV mental disorders using the Composite International Diagnostic Interview and psychotic disorders using the research version of the Structured Clinical Interview for DSM-IV
N/A
N/A
7225
1
0
1
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.
49712
1
0
1
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)
738956
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.
200163
78
6
84
Cases
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
brandler_18_ASD_replication_cases
N/A
WGS
Illumina HiSeq X10
ForestSV, Lumpy, Manta, Mobster, SV2
None
bucan_09_ASD_discovery_cases
Solid phase hybridization
HumanHap550 V3
Penn CNV
qPCR
bucan_09_ASD_replication_cases
European
Solid phase hybridization
HumanHap550 V3
Penn CNV
qPCR
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
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
kanduri_15_ASD_discovery_cases
Finnish
Solid phase hybridization
Illumina Human OmniExpress-12v1.0 BeadChip
QuantiSNP, PennCNV
Illumina BeadStudio
None
lesca_12_EP_discovery_cases
France
aCGH
Agilent SurePrint G3 Human CGH Microarray 4x180K
ADM-2
Agilent Feature Extraction v10.7.3.1, Agilent Genomic WORKBENCH v5.0.14
qPCR
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
pfundt_16_nonNDD_discovery_cases
N/A
WES
Solid5500xl, IlluminaHiSeq2000
CoNIFER
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)
prasad_12_ASD_discovery_cases
Canada
aCGH
Agilent 1M
ADM-2, DNAcopy (R Bioconductor)
DNA Analytics v4.0.85 (Agilent), DNAcopy
None
sanders_11_ASD_discovery_cases
White non-Hispanic, 74.5%; mixed, 9.3%, Asian, 4.3%, White Hispanic, 4.0%, African-American, 3.8%; other, 4.2&
Solid phase hybridization
Illumina 1M v1, Illumina 1M v3
PennCNV, QuantiSNP, GNOSIS
schmitz-abe_20_ASD_discovery_cases
Middle Eastern
Array SNP
Affymetrix 6.0, Affymetrix 500K
qPCR
Controls
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
bucan_09_ASD_discovery_controls
European
Solid phase hybridization
HumanHap550 V3
Penn CNV
bucan_09_ASD_replication_controls
European
Solid phase hybridization
HumanHap550 V3
Penn CNV
engchuan_15_ASD_discovery_controls
Caucasian
Solid phase hybridization
Illumina 1M
None
guo_17_ASD_discovery_controls
Chinese Han
Solid phase hybridization
Illumina 610K BeadChip
PennCNV
qPCR
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
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
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
brandler_18_ASD_replication_cases-caseAU3964302
N/A
M
ASD
Case from MSSNG cohort
49853746
49862658
8913
GRCh38
Deletion
No
bucan_09_ASD_discovery_cases-patient30
NA
ASD
NA
NA
19651
Unknown
Deletion
Yes
bucan_09_ASD_discovery_cases-patient31
NA
ASD
NA
NA
23292
Unknown
Deletion
Yes
bucan_09_ASD_discovery_cases-patient32
NA
ASD
NA
NA
57714
Unknown
Deletion
Yes
bucan_09_ASD_discovery_cases-patient33
NA
ASD
NA
NA
58528
Unknown
Deletion
Yes
bucan_09_ASD_discovery_cases-patient34
NA
ASD
NA
NA
122985
Unknown
Deletion
Yes
bucan_09_ASD_discovery_cases-patient35
NA
ASD
NA
NA
131623
Unknown
Deletion
Yes
bucan_09_ASD_discovery_cases-patient36
NA
ASD
NA
NA
150178
Unknown
Deletion
Yes
bucan_09_ASD_discovery_cases-patient37
NA
ASD
NA
NA
226468
Unknown
Deletion
Yes
bucan_09_ASD_replication_cases-patient14
NA
ASD
NA
NA
194601
Unknown
Deletion
Yes
bucan_09_ASD_replication_cases-patient15
NA
ASD
NA
NA
288518
Unknown
Deletion
Yes
engchuan_15_ASD_discovery_cases-case13039_485
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
44360073
44464391
104319
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case13073_863
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
47767564
47808119
40556
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case13122_1393
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
48321920
48476755
154836
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case13127_1443
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
45727194
45810270
83077
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case13223_2463
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
47761282
47808119
46838
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case13236_2623
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
47761282
47808119
46838
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case14078_1340
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
47767564
47808119
40556
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case14150_2480
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
47767564
47808119
40556
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case14277_4000
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
47767564
47808119
40556
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case14412_5210
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
48278864
48387424
108561
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case16053_1571164001
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
48441508
48561005
119498
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case1763_311
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
44350987
44461691
110705
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case18153_301
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
48278864
48387424
108561
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case20022_1110001
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
48321920
48435852
113933
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case20063_1311001
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
47761282
47808119
46838
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case20085_1382001
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
44352925
44464391
111467
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case20137_1254001
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
47761282
47808119
46838
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case2201_1
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
47832157
47877325
45169
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case2282_1
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
44352925
44461691
108767
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case3048_3
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
48321920
48441508
119589
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case3384_3
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
43762866
44019264
256399
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case3417_3
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
45353134
45539151
186018
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case3450_3
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
45279043
45412042
133000
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case3451_3
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
47761282
47808119
46838
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case3491_3
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
44350987
44461691
110705
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case3513_3
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
44352925
44461691
108767
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case4027_100
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
47767564
47808119
40556
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case4176_1
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
47767564
47811079
43516
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case4188_1
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
45969295
46083651
114357
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case4231_1
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
47767564
47808119
40556
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case4243_1
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
47767564
47808119
40556
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case4417_1
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
45969295
46083651
114357
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case4508_1
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
47767564
47811079
43516
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case4509_1
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
48278864
48381826
102963
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case5206_3
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
48278864
48381826
102963
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case5277_3
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
45994636
46090468
95833
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case5298_3
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
44350987
44464813
113827
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case5321_3
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
48278864
48381826
102963
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case6174_3
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
44352925
44462390
109466
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case6375_6
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
48321920
48470722
148803
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case8152_201
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
44350987
44453466
102480
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case8594_201
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
43762866
44434564
671699
GRCh38
Deletion
No
gai_11_ASD_discovery_cases-AU0090302
Autism
45918391
45991015
72625
Unknown
Deletion
No
gai_11_ASD_discovery_cases-AU0714302
Autism
44124527
44199614
75088
Unknown
Deletion
No
gai_11_ASD_discovery_cases-AU1171301
Autism
43248804
43744576
495773
Unknown
Deletion
No
girirajan_13a_ASD_discovery_cases-12132.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
44031047
44591047
560001
GRCh38
Duplication
No
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00003947
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
47284994
47468193
183200
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004037
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
43789977
44393066
603090
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005389
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
45135229
45729215
593987
GRCh38
Duplication
Yes
kanduri_15_ASD_discovery_cases-case1942
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.
47708397
47715621
7225
Unknown
Deletion
No
kanduri_15_ASD_discovery_cases-case2974
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.
47708397
47715621
7225
Unknown
Deletion
No
lesca_12_EP_discovery_cases-case1-1813
NA
M
Epilepsy + autistic features
Phenotype: i-CSWSS. Seizure Characteristics: Nocturnal. Autistic features: Yes. ADHD features: Yes. Other features: Temporo-sylvian arachnoidal cyst.
Initial cognitive development: Delayed. Cognitive regression: No.
47123375
47193191
69817
GRCh38
Deletion
Yes
lesca_12_EP_discovery_cases-caseDY61
NA
F
Epilepsy
Phenotype: s-CSWSS. Seizure Characteristics: FS, absences. Autistic features: No. ADHD features: Yes. Other features: White matter lesions in the right frontal region and in posterior arm of the right internal capsule.
Initial cognitive development: Delayed. Cognitive regression: Yes.
46054805
46692060
637256
GRCh38
Duplication
Yes
marshall_08_ASD_discovery_cases-SK0320-003
NA
M
ASD
NA
NA
45998628
46114465
115838
GRCh38
Deletion
Yes
pfundt_16_nonNDD_discovery_cases-case16
N/A
N/A
Non-NDD
Disease cohort: complex phenotype. Description: L2HGDH deletion
50112614
50312230
199617
GRCh38
Deletion
No
pinto_10_ASD_discovery_cases-case1763_311
NA
M
ASD
NA
NA
44350987
44461691
110705
GRCh38
Duplication
Yes
pinto_10_ASD_discovery_cases-case5207_4
NA
M
ASD
NA
NA
44712134
44765525
53392
GRCh38
Deletion
Yes
pinto_10_ASD_discovery_cases-case5298_3
NA
M
Autism
Severe language impairment, speech and oral motor deficit; possible history of seizures; pes planus and genu varus bilaterally, no other dysmorphic features; normal brain CT scan
Moderate MR
44350987
44464813
113827
GRCh38
Duplication
Yes
pinto_10_ASD_discovery_cases-case5321_3
NA
M
ASD
NA
NA
48278864
48381826
102963
GRCh38
Deletion
Yes
prasad_12_ASD_discovery_cases-case56040
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
44136057
44192647
56591
Unknown
Deletion
No
prasad_12_ASD_discovery_cases-case64122L
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
47273658
47378383
104726
Unknown
Duplication
No
prasad_12_ASD_discovery_cases-case86474
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
44835350
45574305
738956
Unknown
Deletion
No
sanders_11_ASD_discovery_cases-11001.p1
7.8
M
Autism
NA
Full-scale IQ, 124; non-verbal IQ, 123; verbal IQ, 113
44017140
44061519
44380
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11006.p1
7.3
M
Autism
NA
Full-scale IQ, 109; non-verbal IQ, 125; verbal IQ, 99
48321920
48451683
129764
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11017.p1
4.3
M
Autism
NA
Full-scale IQ, 132; non-verbal IQ, 136; verbal IQ, 116
47205308
47208983
3676
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11030.p1
8.3
M
ASD
NA
Full-scale IQ, 104; non-verbal IQ, 103; verbal IQ, 98
47205308
47208983
3676
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11077.p1
12.2
M
Autism
NA
Full-scale IQ, 33; non-verbal IQ, 36; verbal IQ, 26
47239194
47246418
7225
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11083.p1
8.8
M
Autism
NA
Full-scale IQ, 122; non-verbal IQ, 119; verbal IQ, 122
44036007
44061519
25513
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11090.p1
11.7
M
Autism
NA
Full-scale IQ, 56; non-verbal IQ, 67; verbal IQ, 53
44712134
44756750
44617
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11098.p1
9.2
M
Autism
NA
Full-scale IQ, 89; non-verbal IQ, 89; verbal IQ, 91
45353134
45539151
186018
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11110.p1
15.8
M
Autism
NA
Full-scale IQ, 43; non-verbal IQ, 62; verbal IQ, 32
44036007
44061519
25513
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11115.p1
13.8
F
Autism
NA
Full-scale IQ, 37; non-verbal IQ, 46; verbal IQ, 19
47205308
47208983
3676
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11150.p1
7.6
M
Autism
NA
Full-scale IQ, 61; non-verbal IQ, 64; verbal IQ, 67
44036007
44061519
25513
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11202.p1
11.8
M
Autism
NA
Full-scale IQ, 81; non-verbal IQ, 85; verbal IQ 71
44036007
44061519
25513
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11206.p1
6.1
M
Autism
NA
Full-scale IQ, 36; non-verbal IQ, 40; verbal IQ, 32
44036007
44061519
25513
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11223.p1
12.1
M
Autism
NA
Full-scale IQ, 104; non-verbal IQ, 106; verbal IQ 102
48273965
48398461
124497
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11235.p1
6.8
M
Autism
NA
Full-scale IQ, 100; non-verbal IQ, 97; verbal IQ, 105
44712134
44762805
50672
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11251.p1
7.3
M
Autism
NA
Full-scale IQ, 84; non-verbal IQ, 84; verbal IQ, 88
47205308
47208983
3676
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11267.p1
13.2
F
Autism
NA
Full-scale IQ, 85; non-verbal IQ, 91; verbal IQ, 79
44712134
44762805
50672
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11275.p1
14.5
M
Autism
NA
Full-scale IQ, 109; non-verbal IQ, 117; verbal IQ, 90
46974117
47052956
78840
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11301.p1
9.8
M
Autism
NA
Full-scale IQ, 101; non-verbal IQ, 104; verbal IQ, 96
47239194
47246418
7225
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11310.p1
11
M
Autism
NA
Full-scale IQ, 83; non-verbal IQ, 97; verbal IQ, 63
47239194
47246418
7225
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11367.p1
7.6
M
Aspergers
NA
Full-scale IQ, 115; non-verbal IQ, 119; verbal IQ, 119
47233266
47246418
13153
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11381.p1
5.6
M
Autism
NA
Full-scale IQ, 79; non-verbal IQ, 89; verbal IQ, 68
44036007
44061519
25513
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11393.p1
8.2
M
Autism
NA
Full-scale IQ, 28; non-verbal IQ, 37; verbal IQ, 17
44712134
44755372
43239
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11393.p1
8.2
M
Autism
NA
Full-scale IQ, 28; non-verbal IQ, 37; verbal IQ, 17
47761282
47808119
46838
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11404.p1
7.3
M
Autism
NA
Full-scale IQ, 85; non-verbal IQ, 90; verbal IQ, 82
44113821
44128425
14605
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11425.p1
9.7
M
Autism
NA
Full-scale IQ, 103; non-verbal IQ, 104; verbal IQ, 102
47239194
47246418
7225
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11432.p1
6.5
M
Autism
NA
Full-scale IQ, 117; non-verbal IQ, 117; verbal IQ, 111
47239194
47246418
7225
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11440.p1
8.2
F
Autism
NA
Full-scale IQ, 101; non-verbal IQ, 90; verbal IQ, 122
47205308
47208983
3676
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11475.p1
7.8
M
Autism
NA
Full-scale IQ, 94; non-verbal IQ, 86; verbal IQ, 110
45353134
45555472
202339
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11510.p1
8.3
M
Autism
NA
Full-scale IQ, 87; non-verbal IQ, 81; verbal IQ, 103
47205308
47208983
3676
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11526.p1
7.6
M
Autism
NA
Full-scale IQ, 89; non-verbal IQ, 92; verbal IQ, 85
44860657
44889678
29022
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11546.p1
11.7
M
Autism
NA
Full-scale IQ, 99; non-verbal IQ, 123; verbal IQ, 100
47205308
47208983
3676
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11549.p1
12.2
M
Autism
NA
Full-scale IQ, 48; non-verbal IQ, 61; verbal IQ, 36
44679246
44682347
3102
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11549.p1
12.2
M
Autism
NA
Full-scale IQ, 48; non-verbal IQ, 61; verbal IQ, 36
47695998
47702915
6918
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11550.p1
8.1
M
Autism
NA
Full-scale IQ, 99; non-verbal IQ, 99; verbal IQ, 99
44036007
44069029
33023
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11551.p1
15.5
M
Autism
NA
Full-scale IQ, 98; non-verbal IQ, 101; verbal IQ, 95
44036007
44061519
25513
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11565.p1
10.8
M
Autism
NA
Full-scale IQ, 113; non-verbal IQ, 114; verbal IQ, 109
47239194
47246418
7225
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11567.p1
9.4
F
Autism
NA
Full-scale IQ, 48; non-verbal IQ, 55; verbal IQ, 34
45353134
45545017
191884
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11575.p1
11.8
M
Autism
NA
Full-scale IQ, 103; non-verbal IQ, 105; verbal IQ, 100
44036007
44061519
25513
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11615.p1
12.6
M
Autism
NA
Full-scale IQ, 83; non-verbal IQ, 83; verbal IQ, 89
47239194
47246418
7225
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11634.p1
5.7
M
Autism
NA
Full-scale IQ, 55; non-verbal IQ, 56; verbal IQ, 63
44036007
44061519
25513
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11694.p1
8.8
M
Autism
NA
Full-scale IQ, 99; non-verbal IQ, 89; verbal IQ, 116
44712134
44755372
43239
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11753.p1
17.3
M
Autism
NA
Full-scale IQ, 111; non-verbal IQ, 100; verbal IQ, 128
44712134
44755372
43239
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11768.p1
8.4
M
Autism
NA
Full-scale IQ, 85; non-verbal IQ, 84; verbal IQ, 89
47239194
47246418
7225
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11775.p1
9.7
M
Autism
NA
Full-scale IQ, 39; non-verbal IQ, 45; verbal IQ, 26
47996635
48009391
12757
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11775.p1
9.7
M
Autism
NA
Full-scale IQ, 39; non-verbal IQ, 45; verbal IQ, 26
48015611
48036613
21003
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11775.p1
9.7
M
Autism
NA
Full-scale IQ, 39; non-verbal IQ, 45; verbal IQ, 26
46501101
46593462
92362
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11818.p1
12.1
M
Autism
NA
Full-scale IQ, 40; non-verbal IQ, 44; verbal IQ, 30
45353134
45560087
206954
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11831.p1
10.5
M
Autism
NA
Full-scale IQ, 110; non-verbal IQ, 109; verbal IQ, 110
47205308
47208983
3676
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11845.p1
5.2
M
Autism
NA
Full-scale IQ, 47; non-verbal IQ, 56; verbal IQ, 38
46281404
46297647
16244
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11859.p1
4.5
M
Autism
NA
Full-scale IQ, 54; non-verbal IQ, 49; verbal IQ, 47
47239194
47246418
7225
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
44036007
44061519
25513
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11939.p1
7.2
M
Autism
NA
Full-scale IQ, 89; non-verbal IQ, 91; verbal IQ, 88
47239194
47246418
7225
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11978.p1
9.1
F
ASD
NA
Full-scale IQ, 111; non-verbal IQ, 109; verbal IQ, 113
47205308
47208983
3676
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11984.p1
5
M
Autism
NA
Full-scale IQ, 94; non-verbal IQ, 100; verbal IQ, 88
44712134
44755372
43239
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11984.p1
5
M
Autism
NA
Full-scale IQ, 94; non-verbal IQ, 100; verbal IQ, 88
47239194
47246418
7225
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12006.p1
15.3
M
Autism
NA
Full-scale IQ, 88; non-verbal IQ, 104; verbal IQ, 50
44712134
44756750
44617
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12031.p1
13.5
M
Autism
NA
Full-scale IQ, 123; non-verbal IQ, 108; verbal IQ, 133
47239194
47246418
7225
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12037.p1
10.3
M
Autism
NA
Full-scale IQ, 88; non-verbal IQ, 90; verbal IQ, 88
47692270
47700883
8614
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12052.p1
7.4
M
Autism
NA
Full-scale IQ, 85; non-verbal IQ, 100; verbal IQ, 64
44036007
44061519
25513
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12056.p1
11
M
Autism
NA
Full-scale IQ, 103; non-verbal IQ, 92; verbal IQ, 124
47239194
47246418
7225
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
47761282
47808119
46838
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12068.p1
12.5
M
Autism
NA
Full-scale IQ, 35; non-verbal IQ, 39; verbal IQ, 26
44352925
44449197
96273
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12081.p1
12.9
M
Autism
NA
Full-scale IQ, 88; non-verbal IQ, 87; verbal IQ, 92
47205308
47208983
3676
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12113.p1
4.1
M
Autism
NA
Full-scale IQ, 66; non-verbal IQ, 73; verbal IQ, 69
47239194
47246418
7225
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12117.p1
9.6
M
Autism
NA
Full-scale IQ, 68; non-verbal IQ, 76; verbal IQ, 56
45353134
45553297
200164
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12118.p1
12.6
F
Autism
NA
Full-scale IQ, 82; non-verbal IQ, 74; verbal IQ, 102
47761282
47808119
46838
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12120.p1
5.1
M
Autism
NA
Full-scale IQ, 105; non-verbal IQ, 115; verbal IQ, 85
45614154
45670148
55995
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12227.p1
12.4
M
Autism
NA
Full-scale IQ, 137; non-verbal IQ, 146; verbal IQ, 106
47761282
47808119
46838
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12228.p1
6.8
M
Autism
NA
Full-scale IQ, 108; non-verbal IQ, 117; verbal IQ, 90
47009550
47012742
3193
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12240.p1
8.9
M
ASD
NA
Full-scale IQ, 91; non-verbal IQ, 86; verbal IQ, 104
47205308
47208983
3676
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12243.p1
12
M
Autism
NA
Full-scale IQ, 97; non-verbal IQ, 92; verbal IQ, 107
47239194
47246418
7225
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12257.p1
6
M
ASD
NA
Full-scale IQ, 109; non-verbal IQ, 109; verbal IQ, 106
44712134
44765525
53392
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12279.p1
4.1
M
Autism
NA
Full-scale IQ, 61; non-verbal IQ, 64; verbal IQ, 58
48587464
48664866
77403
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12301.p1
13.9
M
Autism
NA
Full-scale IQ, 119; non-verbal IQ, 115; verbal IQ, 122
47239194
47246418
7225
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12317.p1
6.8
M
Autism
NA
Full-scale IQ, 91; non-verbal IQ, 92; verbal IQ, 95
47239194
47246418
7225
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12321.p1
11.2
M
Autism
NA
Full-scale IQ, 96; non-verbal IQ, 108; verbal IQ, 76
44712134
44755372
43239
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12337.p1
11.6
M
ASD
NA
Full-scale IQ, 121; non-verbal IQ, 112; verbal IQ, 131
47761282
47808119
46838
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12350.p1
11.8
M
Autism
NA
Full-scale IQ, 86; non-verbal IQ, 102; verbal IQ, 61
45353134
45545017
191884
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12355.p1
4.6
M
Autism
NA
Full-scale IQ, 59; non-verbal IQ, 63; verbal IQ, 55
48278864
48394119
115256
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12404.p1
5.1
M
Autism
NA
Full-scale IQ, 48; non-verbal IQ, 50; verbal IQ, 57
47239194
47246418
7225
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12454.p1
5.5
M
Autism
NA
Full-scale IQ, 72; non-verbal IQ, 82; verbal IQ, 62
48664866
48696136
31271
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12472.p1
5.6
F
Autism
NA
Full-scale IQ, 106; non-verbal IQ, 101; verbal IQ, 112
47239194
47246418
7225
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12501.p1
5.6
M
Autism
NA
Full-scale IQ, 96; non-verbal IQ, 97; verbal IQ, 98
47761282
47808119
46838
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12521.p1
7.2
F
Autism
NA
Full-scale IQ, 78; non-verbal IQ, 78; verbal IQ, 83
47239194
47246418
7225
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12524.p1
6.4
F
Autism
NA
Full-scale IQ, 146; non-verbal IQ, 130; verbal IQ, 166
45297307
45309076
11770
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12581.p1
12.4
F
Autism
NA
Full-scale IQ, 34; non-verbal IQ, 34; verbal IQ, 35
48321920
48449276
127357
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
44036007
44061519
25513
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12603.p1
11.7
M
Autism
NA
Full-scale IQ, 23; non-verbal IQ, 26; verbal IQ, 20
47205308
47208983
3676
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12644.p1
10.7
M
Autism
NA
Full-scale IQ, 106; non-verbal IQ, 107; verbal IQ, 104
44712134
44755372
43239
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12647.p1
6.8
M
Autism
NA
Full-scale IQ, 72; non-verbal IQ, 73; verbal IQ, 81
47239194
47246418
7225
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12651.p1
10.8
M
Autism
NA
Full-scale IQ, 24; non-verbal IQ, 34; verbal IQ, 14
44002273
44196412
194140
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12664.p1
11.4
M
Autism
NA
Full-scale IQ, 93; non-verbal IQ, 96; verbal IQ, 89
47239194
47246418
7225
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12665.p1
9.3
M
Autism
NA
Full-scale IQ, 77; non-verbal IQ, 80; verbal IQ, 77
44036007
44061519
25513
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12674.p1
6.5
M
Autism
NA
Full-scale IQ, 87; non-verbal IQ, 92; verbal IQ, 86
47239194
47246418
7225
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12710.p1
4
M
Autism
NA
Full-scale IQ, 88; non-verbal IQ, 81; verbal IQ, 105
44712134
44762805
50672
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12723.p1
6.7
M
Autism
NA
Full-scale IQ, 48; non-verbal IQ, 61; verbal IQ, 38
44036007
44061519
25513
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12740.p1
4.3
M
Autism
NA
Full-scale IQ, 122; non-verbal IQ, 113; verbal IQ, 131
47832157
47877325
45169
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12809.p1
5.6
M
ASD
NA
Full-scale IQ, 86; non-verbal IQ, 88; verbal IQ, 88
48321920
48452628
130709
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12829.p1
11.4
M
Autism
NA
Full-scale IQ, 133; non-verbal IQ, 134; verbal IQ, 117
44712134
44756750
44617
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12923.p1
4.4
M
Autism
NA
Full-scale IQ, 94; non-verbal IQ, 100; verbal IQ, 87
47239194
47246418
7225
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12944.p1
7.9
M
ASD
NA
Full-scale IQ, 77; non-verbal IQ, 84; verbal IQ, 60
47205308
47208983
3676
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12984.p1
10.1
M
Autism
NA
Full-scale IQ, 100; non-verbal IQ, 102; verbal IQ, 96
47239194
47246418
7225
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-13048.p1
12.9
F
Autism
NA
Full-scale IQ, 35; non-verbal IQ, 40; verbal IQ, 26
47239194
47246418
7225
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-13072.p1
15.5
F
Autism
NA
Full-scale IQ, 94; non-verbal IQ, 94; verbal IQ, 97
47239194
47246418
7225
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-13153.p1
9.3
M
Autism
NA
Full-scale IQ, 75; non-verbal IQ, 86; verbal IQ, 59
44360073
44451186
91114
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-13192.p1
7.5
M
Autism
NA
Full-scale IQ, 100; non-verbal IQ, 104; verbal IQ, 94
44360073
44458421
98349
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-13216.p1
4.8
M
Autism
NA
Full-scale IQ, 105; non-verbal IQ, 110; verbal IQ, 93
47239194
47246418
7225
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-13226.p1
8.7
M
ASD
NA
Full-scale IQ, 85; non-verbal IQ, 87; verbal IQ, 85
44036007
44061519
25513
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-13251.p1
7.7
F
Autism
NA
Full-scale IQ, 95; non-verbal IQ, 93; verbal IQ, 102
45994636
46103289
108654
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-13251.p1
7.7
F
Autism
NA
Full-scale IQ, 95; non-verbal IQ, 93; verbal IQ, 102
47239194
47246418
7225
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-13266.p1
7.9
M
Autism
NA
Full-scale IQ, 87; non-verbal IQ, 95; verbal IQ, 81
46281404
46297647
16244
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-13266.p1
7.9
M
Autism
NA
Full-scale IQ, 87; non-verbal IQ, 95; verbal IQ, 81
47239194
47246418
7225
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-13296.p1
5.9
M
Autism
NA
Full-scale IQ, 30; non-verbal IQ, 44; verbal IQ, 15
45353134
45545017
191884
GRCh38
Deletion
No
schmitz-abe_20_ASD_discovery_cases-caseAU-20401
N/A
M
ASD
Proband born to consanguineous parents of Middle Eastern descent from the HMCA cohort. Homozygous deletion did not segregate with ASD in this family.
47497651
47500251
2601
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-control110036020378_
N/A
N/A
Control
No previous psychiatric history
46034919
46281404
246486
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-control110036023851_
N/A
N/A
Control
No previous psychiatric history
48273859
48381826
107968
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlB114549_1007853874
N/A
N/A
Control
No previous psychiatric history
45338075
45539151
201077
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlB251101_1007841959
N/A
N/A
Control
No previous psychiatric history
44458421
44712134
253714
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlB369176_1007843525
N/A
N/A
Control
No previous psychiatric history
44360073
44462390
102318
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlB387047_1007874371
N/A
N/A
Control
No previous psychiatric history
46062769
46480046
417278
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlB407698_1007840266
N/A
N/A
Control
No previous psychiatric history
47767564
47811079
43516
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlB411878_1007840276
N/A
N/A
Control
No previous psychiatric history
44360073
44461691
101619
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlB466917_1007874508
N/A
N/A
Control
No previous psychiatric history
44352925
44464391
111467
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlB495530_1007854186
N/A
N/A
Control
No previous psychiatric history
43690509
43741450
50942
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlB675955_1007841005
N/A
N/A
Control
No previous psychiatric history
47767564
47808119
40556
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlB679348_1007851283
N/A
N/A
Control
No previous psychiatric history
47767564
47808119
40556
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlB747654_1007844423
N/A
N/A
Control
No previous psychiatric history
47767564
47808119
40556
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlB771393_1007874820
N/A
N/A
Control
No previous psychiatric history
44350987
44464813
113827
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlB772562_1007846099
N/A
N/A
Control
No previous psychiatric history
47767564
47808119
40556
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlB778166_1007875138
N/A
N/A
Control
No previous psychiatric history
45994636
46090468
95833
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlB781973_1007874689
N/A
N/A
Control
No previous psychiatric history
47767564
47811079
43516
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlB791991_1007852595
N/A
N/A
Control
No previous psychiatric history
47767564
47808119
40556
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlB830766_1007854715
N/A
N/A
Control
No previous psychiatric history
47767564
47808119
40556
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlB904265_1007873471
N/A
N/A
Control
No previous psychiatric history
47767564
47811079
43516
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlB918862_1007854693
N/A
N/A
Control
No previous psychiatric history
45955416
46117580
162165
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlB931598_1007872875
N/A
N/A
Control
No previous psychiatric history
47946998
48173311
226314
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlB943713_1007844029
N/A
N/A
Control
No previous psychiatric history
46452062
46537686
85625
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlB966792_1007842353
N/A
N/A
Control
No previous psychiatric history
44350987
44470676
119690
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlB975886_1007854099
N/A
N/A
Control
No previous psychiatric history
46365791
46465561
99771
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlB979317_1007842460
N/A
N/A
Control
No previous psychiatric history
44609773
44742112
132340
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlB984152_1007842480
N/A
N/A
Control
No previous psychiatric history
44190254
44273253
83000
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlB985683_1007875312
N/A
N/A
Control
No previous psychiatric history
44585574
44661986
76413
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlHABC_900011_900011
N/A
N/A
Control
No previous psychiatric history
44350987
44464813
113827
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlHABC_900032_900032
N/A
N/A
Control
No previous psychiatric history
47761282
47808119
46838
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlHABC_900111_900111
N/A
N/A
Control
No previous psychiatric history
44182425
44273253
90829
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlHABC_900584_900584
N/A
N/A
Control
No previous psychiatric history
47761282
47808119
46838
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlHABC_901054_901054
N/A
N/A
Control
No previous psychiatric history
48321920
48435852
113933
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlHABC_901065_901065
N/A
N/A
Control
No previous psychiatric history
48321920
48435852
113933
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlHABC_901202_901202
N/A
N/A
Control
No previous psychiatric history
46926598
47032270
105673
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlHABC_901262_901262
N/A
N/A
Control
No previous psychiatric history
48278864
48387424
108561
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlHABC_902443_902443
N/A
N/A
Control
No previous psychiatric history
44027657
44078295
50639
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlHABC_902515_902515
N/A
N/A
Control
No previous psychiatric history
44190254
44273253
83000
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlHABC_902575_902575
N/A
N/A
Control
No previous psychiatric history
48321920
48435852
113933
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlHABC_902590_902590
N/A
N/A
Control
No previous psychiatric history
47761282
47808119
46838
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlHABC_902625_902625
N/A
N/A
Control
No previous psychiatric history
47761282
47808119
46838
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlHABC_902688_902688
N/A
N/A
Control
No previous psychiatric history
44350987
44458421
107435
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlHABC_902784_902784
N/A
N/A
Control
No previous psychiatric history
44352925
44453466
100542
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlHABC_902801_902801
N/A
N/A
Control
No previous psychiatric history
44360073
44458421
98349
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlHABC_902948_900221
N/A
N/A
Control
No previous psychiatric history
44350987
44461691
110705
GRCh38
Duplication
No
guo_17_ASD_discovery_controls-controlPY2555
N/A
N/A
Control
No history of ASD or any other psychiatric diseases; no family history of psychiatric, neurological or autoimmune diseases
44444831
45802503
1357673
GRCh38
Duplication
Yes
kanduri_15_ASD_discovery_controls-control_split2119
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
47708397
47715621
7225
Unknown
Deletion
No
nord_11_ASD_discovery_controls-04C27511
Control
45904128
45953839
49712
Unknown
Deletion
sanders_11_ASD_discovery_controls-11006.s1
5.5
M
Control (matched sibling)
NA
NA
48321920
48441508
119589
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11017.s1
5.7
F
Control (matched sibling)
NA
NA
47205308
47208983
3676
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11090.s1
14.8
M
Control (matched sibling)
NA
NA
44712134
44755372
43239
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11107.s1
3.7
M
Control (matched sibling)
NA
NA
47767564
47808119
40556
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11150.s1
6.5
M
Control (matched sibling)
NA
NA
44036007
44061519
25513
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11235.s1
4.8
M
Control (matched sibling)
NA
NA
44712134
44755372
43239
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11250.s1
12.7
F
Control (matched sibling)
NA
NA
44712134
44762805
50672
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11252.s1
11.4
M
Control (matched sibling)
NA
NA
47205308
47208983
3676
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11267.s1
10.3
M
Control (matched sibling)
NA
NA
44712134
44762805
50672
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11270.s1
4.2
M
Control (matched sibling)
NA
NA
47239194
47246418
7225
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11301.s1
7.2
F
Control (matched sibling)
NA
NA
47239194
47246418
7225
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11304.s1
8.3
F
Control (matched sibling)
NA
NA
46281404
46297647
16244
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11359.s1
11.6
F
Control (matched sibling)
NA
NA
46281404
46297647
16244
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11368.s1
8.1
F
Control (matched sibling)
NA
NA
44712134
44765525
53392
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11374.s1
18.1
F
Control (matched sibling)
NA
NA
46281404
46311997
30594
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11381.s1
7.4
M
Control (matched sibling)
NA
NA
44036007
44061519
25513
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11393.s1
9.1
M
Control (matched sibling)
NA
NA
44712134
44755372
43239
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11393.s1
9.1
M
Control (matched sibling)
NA
NA
47761282
47808119
46838
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11432.s1
8.1
F
Control (matched sibling)
NA
NA
47239194
47246418
7225
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11445.s1
9.5
F
Control (matched sibling)
NA
NA
44036007
44061519
25513
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11445.s1
9.5
F
Control (matched sibling)
NA
NA
47239194
47246418
7225
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11452.s1
6.8
M
Control (matched sibling)
NA
NA
47239194
47246418
7225
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11469.s1
19.1
F
Control (matched sibling)
NA
NA
44712134
44768421
56288
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11471.s1
7.8
F
Control (matched sibling)
NA
NA
44622242
44641002
18761
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11472.s1
10.6
F
Control (matched sibling)
NA
NA
44712134
44762805
50672
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11474.s1
19
M
Control (matched sibling)
NA
NA
44712134
44762805
50672
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11490.s1
9.8
F
Control (matched sibling)
NA
NA
47239194
47246418
7225
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11520.s1
10.8
M
Control (matched sibling)
NA
NA
44712134
44766721
54588
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11550.s1
6.6
F
Control (matched sibling)
NA
NA
44036007
44070514
34508
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11551.s1
12.8
F
Control (matched sibling)
NA
NA
44027657
44077984
50328
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11563.s1
9.3
F
Control (matched sibling)
NA
NA
44712134
44762805
50672
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11575.s1
15.1
F
Control (matched sibling)
NA
NA
44036007
44069029
33023
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11694.s1
6.6
F
Control (matched sibling)
NA
NA
44712134
44765043
52910
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11775.s1
12.7
F
Control (matched sibling)
NA
NA
48361258
48375423
14166
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11775.s1
12.7
F
Control (matched sibling)
NA
NA
47996635
48036613
39979
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11775.s1
12.7
F
Control (matched sibling)
NA
NA
46501101
46599121
98021
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11797.s1
12.2
F
Control (matched sibling)
NA
NA
46281404
46297647
16244
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11808.s1
12.2
F
Control (matched sibling)
NA
NA
47761282
47808119
46838
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11831.s1
7.5
F
Control (matched sibling)
NA
NA
47205308
47208983
3676
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11909.s1
5.7
M
Control (matched sibling)
NA
NA
47239194
47246418
7225
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11917.s1
4.3
F
Control (matched sibling)
NA
NA
44036007
44061519
25513
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11920.s1
18.3
M
Control (matched sibling)
NA
NA
47205308
47208983
3676
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11940.s1
6.5
M
Control (matched sibling)
NA
NA
47205308
47208983
3676
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11984.s1
7.7
F
Control (matched sibling)
NA
NA
44712134
44755372
43239
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12014.s1
4.3
M
Control (matched sibling)
NA
NA
47239194
47246418
7225
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12052.s1
5.4
F
Control (matched sibling)
NA
NA
44036007
44061519
25513
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12061.s1
8.4
M
Control (matched sibling)
NA
NA
47239194
47246418
7225
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12117.s1
12
F
Control (matched sibling)
NA
NA
45353134
45553297
200164
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12118.s1
14.8
F
Control (matched sibling)
NA
NA
47761282
47808119
46838
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12240.s1
6.7
F
Control (matched sibling)
NA
NA
47205308
47208983
3676
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12243.s1
13.5
M
Control (matched sibling)
NA
NA
47239194
47246418
7225
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12257.s1
4.6
M
Control (matched sibling)
NA
NA
44712134
44762805
50672
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12301.s1
16.8
F
Control (matched sibling)
NA
NA
47239194
47246418
7225
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12321.s1
9.8
F
Control (matched sibling)
NA
NA
44712134
44762805
50672
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12337.s1
13.3
M
Control (matched sibling)
NA
NA
47761282
47808119
46838
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12438.s1
6.4
M
Control (matched sibling)
NA
NA
47239194
47246418
7225
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12497.s1
10.8
F
Control (matched sibling)
NA
NA
44036007
44061519
25513
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12497.s1
10.8
F
Control (matched sibling)
NA
NA
44712134
44766721
54588
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12499.s1
9.4
M
Control (matched sibling)
NA
NA
47239194
47246418
7225
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12524.s1
4.4
F
Control (matched sibling)
NA
NA
45297307
45309076
11770
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12555.s1
18.9
F
Control (matched sibling)
NA
NA
47761282
47808119
46838
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12582.s1
9.2
M
Control (matched sibling)
NA
NA
44036007
44061519
25513
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12618.s1
6.8
M
Control (matched sibling)
NA
NA
44352925
44458421
105497
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-12626.s1
16.3
F
Control (matched sibling)
NA
NA
47239194
47246418
7225
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12656.s1
16.3
M
Control (matched sibling)
NA
NA
47233266
47246418
13153
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12690.s1
10.6
M
Control (matched sibling)
NA
NA
47761282
47808119
46838
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12852.s1
6.3
M
Control (matched sibling)
NA
NA
47205308
47208983
3676
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12852.s1
6.3
M
Control (matched sibling)
NA
NA
47239194
47246418
7225
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12858.s1
6.3
F
Control (matched sibling)
NA
NA
43692961
43705581
12621
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12858.s1
6.3
F
Control (matched sibling)
NA
NA
44036007
44061519
25513
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12879.s1
6.3
M
Control (matched sibling)
NA
NA
46281404
46297647
16244
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12901.s1
4.1
M
Control (matched sibling)
NA
NA
44585574
44600046
14473
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-12984.s1
12
M
Control (matched sibling)
NA
NA
47239194
47246418
7225
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-13048.s1
15.6
F
Control (matched sibling)
NA
NA
47239194
47246418
7225
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-13051.s1
9.4
F
Control (matched sibling)
NA
NA
47205308
47208983
3676
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-13153.s1
11.8
M
Control (matched sibling)
NA
NA
44352925
44449197
96273
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-13195.s1
10.1
M
Control (matched sibling)
NA
NA
44076291
44085341
9051
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-13251.s1
6.3
F
Control (matched sibling)
NA
NA
45994636
46104460
109825
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-13251.s1
6.3
F
Control (matched sibling)
NA
NA
47239194
47246418
7225
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-13266.s1
7.9
F
Control (matched sibling)
NA
NA
46281404
46297647
16244
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-13266.s1
7.9
F
Control (matched sibling)
NA
NA
47239194
47246418
7225
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-13296.s1
4.3
F
Control (matched sibling)
NA
NA
45353134
45545017
191884
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-13322.s1
14.3
F
Control (matched sibling)
NA
NA
47239194
47246418
7225
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-13327.s1
10.3
F
Control (matched sibling)
NA
NA
45353134
45545017
191884
GRCh38
Deletion
No
Cases
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
brandler_18_ASD_replication_cases-caseAU3964302
No validation step reported
Maternal
RN7SL3,RN7SL2
bucan_09_ASD_discovery_cases-patient30
qPCR
Unknown
NA
NA
MDGA2
bucan_09_ASD_discovery_cases-patient31
qPCR
Unknown
NA
NA
MDGA2
bucan_09_ASD_discovery_cases-patient32
qPCR
Unknown
NA
NA
MDGA2
bucan_09_ASD_discovery_cases-patient33
qPCR
Unknown
NA
NA
MDGA2
bucan_09_ASD_discovery_cases-patient34
qPCR
Unknown
NA
NA
MDGA2
bucan_09_ASD_discovery_cases-patient35
qPCR
Unknown
NA
NA
MDGA2
bucan_09_ASD_discovery_cases-patient36
qPCR
Unknown
NA
NA
MDGA2
bucan_09_ASD_discovery_cases-patient37
qPCR
Unknown
NA
NA
MDGA2
bucan_09_ASD_replication_cases-patient14
qPCR
Unknown
NA
NA
MDGA2
bucan_09_ASD_replication_cases-patient15
qPCR
Unknown
NA
NA
MDGA2
engchuan_15_ASD_discovery_cases-case13039_485
Unknown
LINC02277,LINC02307
engchuan_15_ASD_discovery_cases-case13073_863
Unknown
LINC00648
engchuan_15_ASD_discovery_cases-case13122_1393
Unknown
RNU6-297P
engchuan_15_ASD_discovery_cases-case13127_1443
Unknown
engchuan_15_ASD_discovery_cases-case13223_2463
Unknown
LINC00648
engchuan_15_ASD_discovery_cases-case13236_2623
Unknown
LINC00648
engchuan_15_ASD_discovery_cases-case14078_1340
Unknown
LINC00648
engchuan_15_ASD_discovery_cases-case14150_2480
Unknown
LINC00648
engchuan_15_ASD_discovery_cases-case14277_4000
Unknown
LINC00648
engchuan_15_ASD_discovery_cases-case14412_5210
Unknown
RNU6-297P
engchuan_15_ASD_discovery_cases-case16053_1571164001
Unknown
RPL18P1
engchuan_15_ASD_discovery_cases-case1763_311
Unknown
LINC02277,LINC02307
engchuan_15_ASD_discovery_cases-case18153_301
Unknown
RNU6-297P
engchuan_15_ASD_discovery_cases-case20022_1110001
Unknown
RNU6-297P
engchuan_15_ASD_discovery_cases-case20063_1311001
Unknown
LINC00648
engchuan_15_ASD_discovery_cases-case20085_1382001
Unknown
LINC02277,LINC02307
engchuan_15_ASD_discovery_cases-case20137_1254001
Unknown
LINC00648
engchuan_15_ASD_discovery_cases-case2201_1
Unknown
engchuan_15_ASD_discovery_cases-case2282_1
Unknown
LINC02277,LINC02307
engchuan_15_ASD_discovery_cases-case3048_3
Unknown
RNU6-297P
engchuan_15_ASD_discovery_cases-case3384_3
Unknown
LINC02307
engchuan_15_ASD_discovery_cases-case3417_3
Unknown
engchuan_15_ASD_discovery_cases-case3450_3
Unknown
DNAJC19P9
engchuan_15_ASD_discovery_cases-case3451_3
Unknown
LINC00648
engchuan_15_ASD_discovery_cases-case3491_3
Unknown
LINC02277,LINC02307
engchuan_15_ASD_discovery_cases-case3513_3
Unknown
LINC02277,LINC02307
engchuan_15_ASD_discovery_cases-case4027_100
Unknown
LINC00648
engchuan_15_ASD_discovery_cases-case4176_1
Unknown
LINC00648
engchuan_15_ASD_discovery_cases-case4188_1
Unknown
LINC00871
engchuan_15_ASD_discovery_cases-case4231_1
Unknown
LINC00648
engchuan_15_ASD_discovery_cases-case4243_1
Unknown
LINC00648
engchuan_15_ASD_discovery_cases-case4417_1
Unknown
LINC00871
engchuan_15_ASD_discovery_cases-case4508_1
Unknown
LINC00648
engchuan_15_ASD_discovery_cases-case4509_1
Unknown
RNU6-297P
engchuan_15_ASD_discovery_cases-case5206_3
Unknown
RNU6-297P
engchuan_15_ASD_discovery_cases-case5277_3
Unknown
LINC00871
engchuan_15_ASD_discovery_cases-case5298_3
Unknown
LINC02277,LINC02307
engchuan_15_ASD_discovery_cases-case5321_3
Unknown
RNU6-297P
engchuan_15_ASD_discovery_cases-case6174_3
Unknown
LINC02277,LINC02307
engchuan_15_ASD_discovery_cases-case6375_6
Unknown
RNU6-297P
engchuan_15_ASD_discovery_cases-case8152_201
Unknown
LINC02277,LINC02307
engchuan_15_ASD_discovery_cases-case8594_201
Unknown
EIF4BP1,YWHAZP1,LINC02307
gai_11_ASD_discovery_cases-AU0090302
Inherited
0 genes
gai_11_ASD_discovery_cases-AU0714302
Inherited
0 genes
gai_11_ASD_discovery_cases-AU1171301
Inherited
0 genes
girirajan_13a_ASD_discovery_cases-12132.p1
Unknown
Simplex
Unknown
EIF4BP1,YWHAZP1,FSCB,LINC02277,LINC02307
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00003947
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
RPS15AP3,MDGA2
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004037
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
EIF4BP1,YWHAZP1,LINC02307
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005389
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
RNU6-552P,DNAJC19P9,FKBP3,FANCM,LINC02303,MIS18BP1
kanduri_15_ASD_discovery_cases-case1942
De novo
Unknown
Unknown
MDGA2 (intronic)
kanduri_15_ASD_discovery_cases-case2974
Maternal
Unknown
Unknown
MDGA2 (intronic)
lesca_12_EP_discovery_cases-case1-1813
qPCR
De novo
Unknown
Possibly segregated
MDGA2
lesca_12_EP_discovery_cases-caseDY61
qPCR
Maternal
Unknown
Unknown
RPL10L,LINC00871
marshall_08_ASD_discovery_cases-SK0320-003
qPCR, qmPCR
Unknown
NA
NA
LINC00871
pfundt_16_nonNDD_discovery_cases-case16
VCPKMT,MIR4504,L2HGDH,SOS2
pinto_10_ASD_discovery_cases-case1763_311
Illumina550
maternal
NA
NA
LINC02277,LINC02307
pinto_10_ASD_discovery_cases-case5207_4
Agilent1M
paternal
NA
NA
LINC02302
pinto_10_ASD_discovery_cases-case5298_3
Agilent1M-Paternal
paternal
Simplex
NA
LINC02277,LINC02307
pinto_10_ASD_discovery_cases-case5321_3
Agilent1M
maternal
NA
NA
RNU6-297P
prasad_12_ASD_discovery_cases-case56040
Unknown
Unknown
Unknown
0 genes
prasad_12_ASD_discovery_cases-case64122L
Unknown
Unknown
Unknown
MIR548Y
prasad_12_ASD_discovery_cases-case86474
Unknown
Unknown
Unknown
0 genes
sanders_11_ASD_discovery_cases-11001.p1
Paternal
Simplex (trio)
NA
LINC02307
sanders_11_ASD_discovery_cases-11006.p1
Paternal
Simplex (quad-proband matched)
Not segregated
RNU6-297P
sanders_11_ASD_discovery_cases-11017.p1
Maternal
Simplex (quad-proband matched)
Not segregated
MDGA2
sanders_11_ASD_discovery_cases-11030.p1
Maternal
Simplex (quad-proband matched)
Not segregated
MDGA2
sanders_11_ASD_discovery_cases-11077.p1
Paternal
Simplex (quad-proband matched)
Not segregated
MDGA2
sanders_11_ASD_discovery_cases-11083.p1
Paternal
Simplex (quad-proband matched)
Not segregated
LINC02307
sanders_11_ASD_discovery_cases-11090.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11098.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11110.p1
Paternal
Simplex (quad-proband matched)
Not segregated
LINC02307
sanders_11_ASD_discovery_cases-11115.p1
Maternal
Simplex (quad-proband matched)
Not segregated
MDGA2
sanders_11_ASD_discovery_cases-11150.p1
Paternal
Simplex (quad-proband matched)
Not segregated
LINC02307
sanders_11_ASD_discovery_cases-11202.p1
Maternal
Simplex (trio)
NA
LINC02307
sanders_11_ASD_discovery_cases-11206.p1
Paternal
Simplex (quad-proband matched)
Not segregated
LINC02307
sanders_11_ASD_discovery_cases-11223.p1
Maternal
Simplex (trio)
NA
RNU6-297P
sanders_11_ASD_discovery_cases-11235.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11251.p1
Maternal
Simplex (quad-proband matched)
Not segregated
MDGA2
sanders_11_ASD_discovery_cases-11267.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11275.p1
Unknown
Simplex (quad-proband matched)
Segregated
RPA2P1,MDGA2
sanders_11_ASD_discovery_cases-11301.p1
Paternal
Simplex (quad-proband matched)
Not segregated
MDGA2
sanders_11_ASD_discovery_cases-11310.p1
Paternal
Simplex (quad-proband matched)
Not segregated
MDGA2
sanders_11_ASD_discovery_cases-11367.p1
Maternal
Simplex (quad-proband matched)
Not segregated
MDGA2
sanders_11_ASD_discovery_cases-11381.p1
Maternal
Simplex (quad-proband matched)
Not segregated
LINC02307
sanders_11_ASD_discovery_cases-11393.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11393.p1
Paternal
Simplex (quad-proband matched)
Not segregated
LINC00648
sanders_11_ASD_discovery_cases-11404.p1
Unknown
Simplex (quad-proband matched)
Not segregated
LINC02307
sanders_11_ASD_discovery_cases-11425.p1
Paternal
Simplex (quad-proband matched)
Not segregated
MDGA2
sanders_11_ASD_discovery_cases-11432.p1
Both parents
Simplex (quad-proband matched)
Not segregated
MDGA2
sanders_11_ASD_discovery_cases-11440.p1
Paternal
Simplex (quad-proband matched)
Not segregated
MDGA2
sanders_11_ASD_discovery_cases-11475.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11510.p1
Maternal
Simplex (quad-proband matched)
Not segregated
MDGA2
sanders_11_ASD_discovery_cases-11526.p1
Maternal
Simplex (quad-proband matched)
Segregated
DOCK11P1
sanders_11_ASD_discovery_cases-11546.p1
Paternal
Simplex (quad-proband matched)
Not segregated
MDGA2
sanders_11_ASD_discovery_cases-11549.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11549.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11550.p1
Both parents
Simplex (quad-proband matched)
Not segregated
LINC02307
sanders_11_ASD_discovery_cases-11551.p1
Both parents
Simplex (quad-proband matched)
Not segregated
LINC02307
sanders_11_ASD_discovery_cases-11565.p1
Maternal
Simplex (quad-proband unmatched)
Unknown
MDGA2
sanders_11_ASD_discovery_cases-11567.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11575.p1
Paternal
Simplex (quad-proband matched)
Not segregated
LINC02307
sanders_11_ASD_discovery_cases-11615.p1
Maternal
Simplex (quad-proband matched)
Not segregated
MDGA2
sanders_11_ASD_discovery_cases-11634.p1
Paternal
Simplex (quad-proband matched)
Not segregated
LINC02307
sanders_11_ASD_discovery_cases-11694.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11753.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11768.p1
Paternal
Simplex (quad-proband matched)
Not segregated
MDGA2
sanders_11_ASD_discovery_cases-11775.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11775.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11775.p1
Paternal
Simplex (quad-proband matched)
Not segregated
LINC00871
sanders_11_ASD_discovery_cases-11818.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11831.p1
Maternal
Simplex (quad-proband matched)
Not segregated
MDGA2
sanders_11_ASD_discovery_cases-11845.p1
Paternal
Simplex (quad-proband matched)
Not segregated
LINC00871
sanders_11_ASD_discovery_cases-11859.p1
Maternal
Simplex (trio)
NA
MDGA2
sanders_11_ASD_discovery_cases-11917.p1
Maternal
Simplex (quad-proband matched)
Not segregated
LINC02307
sanders_11_ASD_discovery_cases-11939.p1
Maternal
Simplex (quad-proband matched)
Not segregated
MDGA2
sanders_11_ASD_discovery_cases-11978.p1
Paternal
Simplex (trio)
NA
MDGA2
sanders_11_ASD_discovery_cases-11984.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11984.p1
Paternal
Simplex (quad-proband matched)
Not segregated
MDGA2
sanders_11_ASD_discovery_cases-12006.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12031.p1
Maternal
Simplex (trio)
NA
MDGA2
sanders_11_ASD_discovery_cases-12037.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12052.p1
Both parents
Simplex (quad-proband matched)
Not segregated
LINC02307
sanders_11_ASD_discovery_cases-12056.p1
Paternal
Simplex (quad-proband matched)
Not segregated
MDGA2
sanders_11_ASD_discovery_cases-12063.p1
Paternal
Simplex (quad-proband matched)
Not segregated
LINC00648
sanders_11_ASD_discovery_cases-12068.p1
Maternal
Simplex (quad-proband matched)
Not segregated
LINC02277,LINC02307
sanders_11_ASD_discovery_cases-12081.p1
Maternal
Simplex (trio)
NA
MDGA2
sanders_11_ASD_discovery_cases-12113.p1
Paternal
Simplex (quad-proband matched)
Not segregated
MDGA2
sanders_11_ASD_discovery_cases-12117.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12118.p1
Paternal
Simplex (quad-proband matched)
Not segregated
LINC00648
sanders_11_ASD_discovery_cases-12120.p1
Unknown
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12227.p1
Paternal
Simplex (quad-proband matched)
Not segregated
LINC00648
sanders_11_ASD_discovery_cases-12228.p1
Paternal
Simplex (quad-proband matched)
Not segregated
MDGA2
sanders_11_ASD_discovery_cases-12240.p1
Maternal
Simplex (quad-proband matched)
Not segregated
MDGA2
sanders_11_ASD_discovery_cases-12243.p1
Both parents
Simplex (quad-proband matched)
Not segregated
MDGA2
sanders_11_ASD_discovery_cases-12257.p1
Maternal
Simplex (quad-proband matched)
Not segregated
LINC02302
sanders_11_ASD_discovery_cases-12279.p1
Paternal
Simplex (quad-proband unmatched)
Unknown
sanders_11_ASD_discovery_cases-12301.p1
Paternal
Simplex (quad-proband matched)
Not segregated
MDGA2
sanders_11_ASD_discovery_cases-12317.p1
Maternal
Simplex (quad-proband matched)
Not segregated
MDGA2
sanders_11_ASD_discovery_cases-12321.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12337.p1
Paternal
Simplex (quad-proband matched)
Not segregated
LINC00648
sanders_11_ASD_discovery_cases-12350.p1
Maternal
Simplex (trio)
NA
sanders_11_ASD_discovery_cases-12355.p1
Paternal
Simplex (trio)
NA
RNU6-297P
sanders_11_ASD_discovery_cases-12404.p1
Maternal
Simplex (trio)
NA
MDGA2
sanders_11_ASD_discovery_cases-12454.p1
Maternal
Simplex (trio)
NA
sanders_11_ASD_discovery_cases-12472.p1
Paternal
Simplex (trio)
NA
MDGA2
sanders_11_ASD_discovery_cases-12501.p1
Paternal
Simplex (quad-proband matched)
Not segregated
LINC00648
sanders_11_ASD_discovery_cases-12521.p1
Paternal
Simplex (quad-proband matched)
Not segregated
MDGA2
sanders_11_ASD_discovery_cases-12524.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12581.p1
Paternal
Simplex (quad-proband matched)
Not segregated
RNU6-297P
sanders_11_ASD_discovery_cases-12582.p1
Paternal
Simplex (quad-proband matched)
Not segregated
LINC02307
sanders_11_ASD_discovery_cases-12603.p1
Paternal
Simplex (quad-proband matched)
Not segregated
MDGA2
sanders_11_ASD_discovery_cases-12644.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12647.p1
Paternal
Simplex (quad-proband matched)
Not segregated
MDGA2
sanders_11_ASD_discovery_cases-12651.p1
Paternal
Simplex (quad-proband matched)
Not segregated
EIF4BP1,LINC02307
sanders_11_ASD_discovery_cases-12664.p1
Maternal
Simplex (quad-proband matched)
Not segregated
MDGA2
sanders_11_ASD_discovery_cases-12665.p1
Maternal
Simplex (trio)
NA
LINC02307
sanders_11_ASD_discovery_cases-12674.p1
Paternal
Simplex (quad-proband matched)
Not segregated
MDGA2
sanders_11_ASD_discovery_cases-12710.p1
Paternal
Simplex (trio)
NA
sanders_11_ASD_discovery_cases-12723.p1
Paternal
Simplex (quad-proband matched)
Not segregated
LINC02307
sanders_11_ASD_discovery_cases-12740.p1
Maternal
Simplex (trio)
NA
sanders_11_ASD_discovery_cases-12809.p1
Paternal
Simplex (trio)
NA
RNU6-297P
sanders_11_ASD_discovery_cases-12829.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12923.p1
Maternal
Simplex (quad-proband matched)
Not segregated
MDGA2
sanders_11_ASD_discovery_cases-12944.p1
Maternal
Simplex (quad-proband matched)
Not segregated
MDGA2
sanders_11_ASD_discovery_cases-12984.p1
Maternal
Simplex (quad-proband matched)
Not segregated
MDGA2
sanders_11_ASD_discovery_cases-13048.p1
Both parents
Simplex (quad-proband matched)
Not segregated
MDGA2
sanders_11_ASD_discovery_cases-13072.p1
Paternal
Simplex (quad-proband matched)
Not segregated
MDGA2
sanders_11_ASD_discovery_cases-13153.p1
Maternal
Simplex (quad-proband matched)
Not segregated
LINC02277,LINC02307
sanders_11_ASD_discovery_cases-13192.p1
Maternal
Simplex (quad-proband unmatched)
Unknown
LINC02277,LINC02307
sanders_11_ASD_discovery_cases-13216.p1
Maternal
Simplex (quad-proband matched)
Not segregated
MDGA2
sanders_11_ASD_discovery_cases-13226.p1
Maternal
Simplex (quad-proband matched)
Not segregated
LINC02307
sanders_11_ASD_discovery_cases-13251.p1
Maternal
Simplex (quad-proband matched)
Not segregated
LINC00871
sanders_11_ASD_discovery_cases-13251.p1
Both parents
Simplex (quad-proband matched)
Not segregated
MDGA2
sanders_11_ASD_discovery_cases-13266.p1
Maternal
Simplex (quad-proband matched)
Not segregated
LINC00871
sanders_11_ASD_discovery_cases-13266.p1
Paternal
Simplex (quad-proband matched)
Not segregated
MDGA2
sanders_11_ASD_discovery_cases-13296.p1
Maternal
Simplex (quad-proband matched)
Not segregated
schmitz-abe_20_ASD_discovery_cases-caseAU-20401
qPCR
Both parents
Unknown
Not segregated
MDGA2
Controls
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
engchuan_15_ASD_discovery_controls-control110036020378_
Unknown
LINC00871
engchuan_15_ASD_discovery_controls-control110036023851_
Unknown
RNU6-297P
engchuan_15_ASD_discovery_controls-controlB114549_1007853874
Unknown
engchuan_15_ASD_discovery_controls-controlB251101_1007841959
Unknown
FSCB,LINC02277
engchuan_15_ASD_discovery_controls-controlB369176_1007843525
Unknown
LINC02277,LINC02307
engchuan_15_ASD_discovery_controls-controlB387047_1007874371
Unknown
LINC00871
engchuan_15_ASD_discovery_controls-controlB407698_1007840266
Unknown
LINC00648
engchuan_15_ASD_discovery_controls-controlB411878_1007840276
Unknown
LINC02277,LINC02307
engchuan_15_ASD_discovery_controls-controlB466917_1007874508
Unknown
LINC02277,LINC02307
engchuan_15_ASD_discovery_controls-controlB495530_1007854186
Unknown
engchuan_15_ASD_discovery_controls-controlB675955_1007841005
Unknown
LINC00648
engchuan_15_ASD_discovery_controls-controlB679348_1007851283
Unknown
LINC00648
engchuan_15_ASD_discovery_controls-controlB747654_1007844423
Unknown
LINC00648
engchuan_15_ASD_discovery_controls-controlB771393_1007874820
Unknown
LINC02277,LINC02307
engchuan_15_ASD_discovery_controls-controlB772562_1007846099
Unknown
LINC00648
engchuan_15_ASD_discovery_controls-controlB778166_1007875138
Unknown
LINC00871
engchuan_15_ASD_discovery_controls-controlB781973_1007874689
Unknown
LINC00648
engchuan_15_ASD_discovery_controls-controlB791991_1007852595
Unknown
LINC00648
engchuan_15_ASD_discovery_controls-controlB830766_1007854715
Unknown
LINC00648
engchuan_15_ASD_discovery_controls-controlB904265_1007873471
Unknown
LINC00648
engchuan_15_ASD_discovery_controls-controlB918862_1007854693
Unknown
LINC00871
engchuan_15_ASD_discovery_controls-controlB931598_1007872875
Unknown
engchuan_15_ASD_discovery_controls-controlB943713_1007844029
Unknown
LINC00871
engchuan_15_ASD_discovery_controls-controlB966792_1007842353
Unknown
LINC02277,LINC02307
engchuan_15_ASD_discovery_controls-controlB975886_1007854099
Unknown
LINC00871
engchuan_15_ASD_discovery_controls-controlB979317_1007842460
Unknown
engchuan_15_ASD_discovery_controls-controlB984152_1007842480
Unknown
LINC02307
engchuan_15_ASD_discovery_controls-controlB985683_1007875312
Unknown
engchuan_15_ASD_discovery_controls-controlHABC_900011_900011
Unknown
LINC02277,LINC02307
engchuan_15_ASD_discovery_controls-controlHABC_900032_900032
Unknown
LINC00648
engchuan_15_ASD_discovery_controls-controlHABC_900111_900111
Unknown
LINC02307
engchuan_15_ASD_discovery_controls-controlHABC_900584_900584
Unknown
LINC00648
engchuan_15_ASD_discovery_controls-controlHABC_901054_901054
Unknown
RNU6-297P
engchuan_15_ASD_discovery_controls-controlHABC_901065_901065
Unknown
RNU6-297P
engchuan_15_ASD_discovery_controls-controlHABC_901202_901202
Unknown
RPA2P1,MDGA2
engchuan_15_ASD_discovery_controls-controlHABC_901262_901262
Unknown
RNU6-297P
engchuan_15_ASD_discovery_controls-controlHABC_902443_902443
Unknown
EIF4BP1,LINC02307
engchuan_15_ASD_discovery_controls-controlHABC_902515_902515
Unknown
LINC02307
engchuan_15_ASD_discovery_controls-controlHABC_902575_902575
Unknown
RNU6-297P
engchuan_15_ASD_discovery_controls-controlHABC_902590_902590
Unknown
LINC00648
engchuan_15_ASD_discovery_controls-controlHABC_902625_902625
Unknown
LINC00648
engchuan_15_ASD_discovery_controls-controlHABC_902688_902688
Unknown
LINC02277,LINC02307
engchuan_15_ASD_discovery_controls-controlHABC_902784_902784
Unknown
LINC02277,LINC02307
engchuan_15_ASD_discovery_controls-controlHABC_902801_902801
Unknown
LINC02277,LINC02307
engchuan_15_ASD_discovery_controls-controlHABC_902948_900221
Unknown
LINC02277,LINC02307
guo_17_ASD_discovery_controls-controlPY2555
qPCR
Unknown
FSCB,DOCK11P1,C14orf28,SNORD127,RNU6-552P,DNAJC19P9,LINC02277,LINC02302,TOGARAM1,FKBP3,FANCM,LINC02303,KLHL28,MIS18BP1,PRPF39
kanduri_15_ASD_discovery_controls-control_split2119
Unknown
MDGA2 (intronic)
nord_11_ASD_discovery_controls-04C27511
0 genes
sanders_11_ASD_discovery_controls-11006.s1
Paternal
Simplex (quad)
NA
RNU6-297P
sanders_11_ASD_discovery_controls-11017.s1
Maternal
Simplex (quad)
NA
MDGA2
sanders_11_ASD_discovery_controls-11090.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11107.s1
Paternal
Simplex (quad)
NA
LINC00648
sanders_11_ASD_discovery_controls-11150.s1
Paternal
Simplex (quad)
NA
LINC02307
sanders_11_ASD_discovery_controls-11235.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11250.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11252.s1
Paternal
Simplex (quad)
NA
MDGA2
sanders_11_ASD_discovery_controls-11267.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11270.s1
Both parents
Simplex (quad)
NA
MDGA2
sanders_11_ASD_discovery_controls-11301.s1
Paternal
Simplex (quad)
NA
MDGA2
sanders_11_ASD_discovery_controls-11304.s1
Maternal
Simplex (quad)
NA
LINC00871
sanders_11_ASD_discovery_controls-11359.s1
Maternal
Simplex (quad)
NA
LINC00871
sanders_11_ASD_discovery_controls-11368.s1
Maternal
Simplex (quad)
NA
LINC02302
sanders_11_ASD_discovery_controls-11374.s1
Paternal
Simplex (quad)
NA
LINC00871
sanders_11_ASD_discovery_controls-11381.s1
Maternal
Simplex (quad)
NA
LINC02307
sanders_11_ASD_discovery_controls-11393.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11393.s1
Paternal
Simplex (quad)
NA
LINC00648
sanders_11_ASD_discovery_controls-11432.s1
Both parents
Simplex (quad)
NA
MDGA2
sanders_11_ASD_discovery_controls-11445.s1
Maternal
Simplex (quad)
NA
LINC02307
sanders_11_ASD_discovery_controls-11445.s1
Paternal
Simplex (quad)
NA
MDGA2
sanders_11_ASD_discovery_controls-11452.s1
Paternal
Simplex (quad)
NA
MDGA2
sanders_11_ASD_discovery_controls-11469.s1
Maternal
Simplex (quad)
NA
LINC02302
sanders_11_ASD_discovery_controls-11471.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11472.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11474.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11490.s1
Paternal
Simplex (quad)
NA
MDGA2
sanders_11_ASD_discovery_controls-11520.s1
Maternal
Simplex (quad)
NA
LINC02302
sanders_11_ASD_discovery_controls-11550.s1
Both parents
Simplex (quad)
NA
LINC02307
sanders_11_ASD_discovery_controls-11551.s1
Paternal
Simplex (quad)
NA
EIF4BP1,LINC02307
sanders_11_ASD_discovery_controls-11563.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11575.s1
Paternal
Simplex (quad)
NA
LINC02307
sanders_11_ASD_discovery_controls-11694.s1
Paternal
Simplex (quad)
NA
LINC02302
sanders_11_ASD_discovery_controls-11775.s1
Unknown
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11775.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11775.s1
Paternal
Simplex (quad)
NA
LINC00871
sanders_11_ASD_discovery_controls-11797.s1
Paternal
Simplex (quad)
NA
LINC00871
sanders_11_ASD_discovery_controls-11808.s1
Paternal
Simplex (quad)
NA
LINC00648
sanders_11_ASD_discovery_controls-11831.s1
Maternal
Simplex (quad)
NA
MDGA2
sanders_11_ASD_discovery_controls-11909.s1
Paternal
Simplex (quad)
NA
MDGA2
sanders_11_ASD_discovery_controls-11917.s1
Maternal
Simplex (quad)
NA
LINC02307
sanders_11_ASD_discovery_controls-11920.s1
Both parents
Simplex (quad)
NA
MDGA2
sanders_11_ASD_discovery_controls-11940.s1
Paternal
Simplex (quad)
NA
MDGA2
sanders_11_ASD_discovery_controls-11984.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12014.s1
Paternal
Simplex (quad)
NA
MDGA2
sanders_11_ASD_discovery_controls-12052.s1
Both parents
Simplex (quad)
NA
LINC02307
sanders_11_ASD_discovery_controls-12061.s1
Maternal
Simplex (quad)
NA
MDGA2
sanders_11_ASD_discovery_controls-12117.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12118.s1
Paternal
Simplex (quad)
NA
LINC00648
sanders_11_ASD_discovery_controls-12240.s1
Maternal
Simplex (quad)
NA
MDGA2
sanders_11_ASD_discovery_controls-12243.s1
Both parents
Simplex (quad)
NA
MDGA2
sanders_11_ASD_discovery_controls-12257.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12301.s1
Paternal
Simplex (quad)
NA
MDGA2
sanders_11_ASD_discovery_controls-12321.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12337.s1
Paternal
Simplex (quad)
NA
LINC00648
sanders_11_ASD_discovery_controls-12438.s1
Paternal
Simplex (quad)
NA
MDGA2
sanders_11_ASD_discovery_controls-12497.s1
Maternal
Simplex (quad)
NA
LINC02307
sanders_11_ASD_discovery_controls-12497.s1
Paternal
Simplex (quad)
NA
LINC02302
sanders_11_ASD_discovery_controls-12499.s1
Maternal
Simplex (quad)
NA
MDGA2
sanders_11_ASD_discovery_controls-12524.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12555.s1
Maternal
Simplex (quad)
NA
LINC00648
sanders_11_ASD_discovery_controls-12582.s1
Paternal
Simplex (quad)
NA
LINC02307
sanders_11_ASD_discovery_controls-12618.s1
Paternal
Simplex (quad)
NA
LINC02277,LINC02307
sanders_11_ASD_discovery_controls-12626.s1
Maternal
Simplex (quad)
NA
MDGA2
sanders_11_ASD_discovery_controls-12656.s1
Paternal
Simplex (quad)
NA
MDGA2
sanders_11_ASD_discovery_controls-12690.s1
Paternal
Simplex (quad)
NA
LINC00648
sanders_11_ASD_discovery_controls-12852.s1
Paternal
Simplex (quad)
NA
MDGA2
sanders_11_ASD_discovery_controls-12852.s1
Maternal
Simplex (quad)
NA
MDGA2
sanders_11_ASD_discovery_controls-12858.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12858.s1
Paternal
Simplex (quad)
NA
LINC02307
sanders_11_ASD_discovery_controls-12879.s1
Maternal
Simplex (quad)
NA
LINC00871
sanders_11_ASD_discovery_controls-12901.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12984.s1
Maternal
Simplex (quad)
NA
MDGA2
sanders_11_ASD_discovery_controls-13048.s1
Both parents
Simplex (quad)
NA
MDGA2
sanders_11_ASD_discovery_controls-13051.s1
Paternal
Simplex (quad)
NA
MDGA2
sanders_11_ASD_discovery_controls-13153.s1
Maternal
Simplex (quad)
NA
LINC02277,LINC02307
sanders_11_ASD_discovery_controls-13195.s1
Both parents
Simplex (quad)
NA
EIF4BP1,LINC02307
sanders_11_ASD_discovery_controls-13251.s1
Maternal
Simplex (quad)
NA
LINC00871
sanders_11_ASD_discovery_controls-13251.s1
Both parents
Simplex (quad)
NA
MDGA2
sanders_11_ASD_discovery_controls-13266.s1
Maternal
Simplex (quad)
NA
LINC00871
sanders_11_ASD_discovery_controls-13266.s1
Paternal
Simplex (quad)
NA
MDGA2
sanders_11_ASD_discovery_controls-13296.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-13322.s1
Maternal
Simplex (quad)
NA
MDGA2
sanders_11_ASD_discovery_controls-13327.s1
Paternal
Simplex (quad)
NA
No Animal Model Data Available