18q22.1CNV Type: Deletion-Duplication
Largest CNV size: 288002 bp
Statistics Box:
Number of Reports: 22
Number of Reports: 22
Summary Information
Summary statement in development
Additional Locus Information
References
Major Reports
Title
Author, Year
Report Class
CNV Type
Functional impact of global rare copy number variation in autism spectrum disorders.
Deletion
An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabili...
Deletion-Duplication
Minor Reports
Title
Author, Year
Report Class
CNV Type
Rare structural variation of synapse and neurotransmission genes in autism.
Deletion
Reduced transcript expression of genes affected by inherited and de novo CNVs in autism.
Duplication
Novel copy number variants in children with autism and additional developmental anomalies.
Deletion
Multiple recurrent de novo CNVs, including duplications of the 7q11.23 Williams syndrome region, are strongly associated with autism.
Deletion-Duplication
Rare de novo and transmitted copy-number variation in autistic spectrum disorders.
Duplication
Haploinsufficiency of CELF4 at 18q12.2 is associated with developmental and behavioral disorders, seizures, eye manifestations, and obesity.
Deletion
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
Identification of small exonic CNV from whole-exome sequence data and application to autism spectrum disorder.
Duplication
Both rare and de novo copy number variants are prevalent in agenesis of the corpus callosum but not in cerebellar hypoplasia or polymicrogyria.
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
Chromosomal microarray analysis in clinical evaluation of neurodevelopmental disorders-reporting a novel deletion of SETDB1 and illustration of cou...
Deletion
Copy-number variations are enriched for neurodevelopmental genes in children with developmental coordination disorder.
Deletion
Rare Inherited and De Novo CNVs Reveal Complex Contributions to ASD Risk in Multiplex Families.
Deletion
Copy number variation analysis of patients with intellectual disability from North-West Spain.
Duplication
Cases
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
davis_09_ASD_discovery_cases
Autistic cases from Autism Genetic Research Exchange (AGRE)
36
ASD: diagnosis confirmed through ADI and in some cases ADOS-G. 17 cases with syndromic autism (autism and less than common craniofacial dysmorphology, limb or digit abnormality, or ocular abnormality), 19 cases selected at random with autism and no associated syndromic features
NA
NA
155930
1
0
1
engchuan_15_ASD_discovery_cases
Samples from the Autism Genome Project (AGP)
1892
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
N/A
85.78% Male
1365890
28
1
29
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
502324
2
0
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
165626
5
0
5
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
836000
0
2
2
halgren_12_DD/ID_discovery_cases
Second child of healthy unrelated parents with a complex de novo chromosomal rearrangement [t(12;18)(q21.31;q12.2), inv18(q12.2q22.1).arr12q21.31(83,761,458-83,857,594)x1, 18q12.2(34,810,178-34,867,844)x1, 18q12.2(35,007,705-35,049,456)x1, 18q22.1(65,284,854-65,430,839)x1 dn].
1
Developmental delay/intellectual disability (DD/ID) with additional behavioral disorders, including autistic features. Case diagnosed with behavioral disorder, oppositional defiant disorder, and mixed specific developmental disorder (all according to ICD-10) at age of 13 years; screening for major psychiatric disease using Mini International Diagnostic Interview (V5.0.0) that refers to DSM-IV at age of 27 years failed to yield single diagnosis.
27 yrs.
Male
145986
1
0
1
itsara_10_ASD_discovery_cases
ASD probands from multiplex (n=1270) and simplex (n=60) families from AGRE collection
1330
ASD: Autism, broad spectrum autism (Spectrum), or NQA (not quite autism)
34103
1
0
1
kaminsky_11_DD/ID/ASD_discovery_cases
Cases from the International Standards for Cytogenomic Arrays (ISCA) consortium
15749
Unexplained developmental delay, intellectual disability, dysmorphic features, multiple congenital anomalies, autism spectrum disorders, or clinical features suggestive of a chromosomal syndrome
NA
NA
2942368
3
2
5
krumm_13_ASD_discovery_cases
Probands from quad families ascertained as part of the Simons Simplex Collection (SSC); CNVs detected using data from four previously published exome sequencing studies (O'Roak et al., 2011; Iossifov et al., 2012; O'Roak et al., 2012; Sanders et al., 2012)
411
Diagnosis of ASD. Social Responsiveness Scale (SRS) used as a quantitative measure of social deficits
N/A
81.265% Male
933
1
0
1
krumm_15_ASD_discovery_cases
Probands from the Simons Simplex Collection
2377
Diagnosis of ASD
N/A
N/A
2270511
0
3
3
leppa_16_ASD_discovery_cases
Children affected with ASD from 1,464 families from the Autism Genetic Resource Exchange (AGRE)
1764
Diagnosis according to ADOS and ADI-R
N/A
N/A
500000
1
0
1
levy_11_ASD_discovery_cases
Autistic probands from 887 families from the Simons Simplex Collection (SSC)
858
ASD
87.06% Male
106011
0
1
1
mosca_16_DCD_discovery_cases
Participants recruited as part of a multidisciplinary study at the Alberta Children's Hospital (Calgary, Alberta, Canada)
82
All cases met diagnostic criteria for developmental coordination disorder (DCD) with or without co-occurring ADHD and/or reading disorder.
Range, 8-17 years (Mean, 10.06 2.92 yrs.)
N/A
113508
1
0
1
nord_11_ASD_discovery_cases
Youth with ASD (as part of mother-father-child trios)
41
ASD
85.4% Male
251948
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
42616
1
0
1
poultney_13_ASD_discovery_cases
ASD cases of European ancestry from AGRE retained after filtering (original cohort size of 432 cases)
299
Cases diagnosed with ASD
N/A
79.86% Male (before filtering)
16679
0
1
1
prasad_12_ASD_discovery_cases
Unrelated ASD cases recruited from three Canadian sites (Hospital for Sick Children, McMaster University, and Memorial University of Newfoundland); the majority of cases had been previously genotyped with results published in Marshall et al., 2008 and Pinto et al., 2010. 20 cases from initial cohort of 696 were excluded from further analysis (due to CNVs > 5 Mb).
676
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS
NA
82.84% Male
42165
1
1
2
quintela_17_DD/ID_discovery_cases
Galician (NW Spain) patients recruited from the Complexo Hospitalario Universitario de Santiago de Compostela and referred to the Fundacion Publica Galega de Medicina Xenomica for genetic study
573
All participants had a clinical diagnosis of idiopathic intellectual disability (ID) or global developmental delay (DD) with or without another medical condition [e.g. autism spectrum disorder (ASD), attention deficit hyperactivity disorder (ADHD), epilepsy, dysmorphic features, and/or congenital anomalies]
Range, 3 months-18 years
60.38% Male
410583
0
1
1
sajan_13_ACC/CBLH/PMG_discovery_cases
Individuals with severe congenital brain malformations [agenesis of the corpus callosum (ACC), cerebellar hypoplasia (CBLH), and/or polymicrogyria (PMG)] and additional neurodevelopmental phenotypes
487
Diagnosis of agenesis of the corpus callosum (ACC), cerebellar hypoplasia (CBLH), and/or polymicrogyria (PMG); additional diagnoses of autism spectrum disorder (ASD), developmental delay (DD), intellectual disability (ID) and/or seizures in some patients
N/A
N/A
75989
1
0
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
288002
57
66
123
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
225000
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
stamouli_18_ASD/NDD_discovery_cases
Affected individuals from 100 twin pairs (69 monozygotic, 31 dizygotic), corresponding to 97 families, that were enriched for neurodevelopmental disorders from the Roots of Autism and ADHD Study in Sweden (RATSS)
100 twin pairs
Diagnoses based on DSM-5 criteria following evaluation using standard diagnostic tools [a psychosocial and anamnestic interview, the Autism Diagnosis Interview-Revised (ADI-R), the Autism Diagnostic Observation Schedule Second Edition (ADOS-2), the Kiddie Schedule for Affective Disorders and Schizophrenia (K-SADS), or the Diagnostic Interview for ADHD in Adults (DIVA)]; Wechsler Intelligence Scale for Children or Adults, Fourth Edition (WISC-IV) or the Leiter-revised scales in combination with the Peabody Picture Vocabulary Test, Third Edition, and the parent-based Adaptive Behavior Assessment Scale, 2nd Edition (ABAS-2) were also used to evaluate adaptive, cognitive, and verbal abilities an
N/A
N/A
1913150
1
1
2
xu_16_ASD/DD/ID_discovery_cases
Patients referred to the Duke Autism Genetics Clinic for clinical genetic evaluation of ASD and DD/ID from 2010-2014
115
66 cases with confirmed primary diagnosis of ASD (DSM-IV, DSM-5, ADOS, and ADI-R used to support ASD diagnosis), 49 cases with primary diagnosis of DD or ID (based on IQ and DQ scores).
Range, 18 months-15.1 years (mean age, 5.7 years)
72.17% Male
265000
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
843737
23
3
26
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
413532
2
4
6
krumm_13_ASD_discovery_controls
Unaffected siblings of ASD probands from quad families ascertained as part of the Simons Simplex Collection (SSC); CNVs detected using data from four previously published exome sequencing studies (O'Roak et al., 2011; Iossifov et al., 2012; O'Roak et al., 2012; Sanders et al., 2012)
411
Control (unaffected siblings of ASD probands). Social Responsiveness Scale (SRS) used as a quantitative measure of social deficits
N/A
46.47% Male
933
1
0
1
krumm_15_ASD_discovery_controls
Unaffected siblings from quad families from the Simons Simplex Collection
1786
Control
N/A
N/A
63210
0
1
1
leppa_16_ASD_discovery_controls
Unaffected children from 1,464 families from the Autism Genetic Resource Exchange (AGRE)
572
Control
N/A
N/A
500000
1
0
1
levy_11_ASD_discovery_controls
Unaffected siblings of autistic probands from 887 families from the Simons Simplex Collection (SSC)
863
Control
47.97% Male
106011
0
1
1
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)
720268
0
1
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)
42165
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.
288002
31
41
72
soueid_16_ASD_discovery_controls
Control cohort of normal participants
37
Control
N/A
51.35% Male
0
0
0
0
stamouli_18_ASD/NDD_discovery_controls
Unaffected individuals from 100 twin pairs (69 monozygotic, 31 dizygotic), corresponding to 97 families, that were enriched for neurodevelopmental disorders from the Roots of Autism and ADHD Study in Sweden (RATSS)
100 twin pairs
Control (unaffected) individual following evaluation using standard diagnostic tools [a psychosocial and anamnestic interview, the Autism Diagnosis Interview-Revised (ADI-R), the Autism Diagnostic Observation Schedule Second Edition (ADOS-2), the Kiddie Schedule for Affective Disorders and Schizophrenia (K-SADS), or the Diagnostic Interview for ADHD in Adults (DIVA)]; Wechsler Intelligence Scale for Children or Adults, Fourth Edition (WISC-IV) or the Leiter-revised scales in combination with the Peabody Picture Vocabulary Test, Third Edition, and the parent-based Adaptive Behavior Assessment Scale, 2nd Edition (ABAS-2) were also used to evaluate adaptive, cognitive, and verbal abilities and
N/A
N/A
428620
0
1
1
Cases
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
davis_09_ASD_discovery_cases
NA
Array SNP
Affymetrix 250K Nsp, Affymetrix 250K Syt
HMM
CNAG v2.0
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
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
halgren_12_DD/ID_discovery_cases
Denmark
Array SNP
Affymetrix 6.0
Genotyping Console (Affymetrix)
None
itsara_10_ASD_discovery_cases
Solid phase hybridization
Illumina HumanHap550v1 and v3 SNP array
HMM
Illumina GenomeStudio
aCGH (custom NimbleGen 12 X 135)
kaminsky_11_DD/ID/ASD_discovery_cases
NA
aCGH
Agilent 44K, Agilent 105K
Feature Extraction, DNA Analytics
FISH, qPCR, MLPA, aCGH, standard G-banded chromosome analysis
krumm_13_ASD_discovery_cases
N/A
WES
Whole exome sequencing platforms used in four recent publications (O'Roak et al., 2011; Sanders et al., 2012; O'Roak et al., 2012, and Iossifov et al., 2012)
DNACopy, CGHCall
CoNIFER
None
krumm_15_ASD_discovery_cases
N/A
WES
CoNIFER, XHMM
Solid phase hybridization (Illumina 1M, 1 M Duo, or Omni 2.5)
leppa_16_ASD_discovery_cases
N/A
Solid phase hybridization
Illumina 550v1 and 550v3, Omni-1.0-B and -H, Omni 2.5
PennCNV, QuantiSNP, GNOSIS
GenomeStudio, CNVision
None
levy_11_ASD_discovery_cases
aCGH
NimbleGen HD2
HMM
mosca_16_DCD_discovery_cases
Canada
Solid phase hybridization
Illumina HumanOmni2.5-Quad BeadChip
iPattern, PennCNV, QuantiSNP, CNVPartition
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
quintela_17_DD/ID_discovery_cases
North West Spain
Array SNP
Affymetrix Cytogenetics Whole-Genome 2M SNP array, Affymetrix CytoScan HD
Affymetrix ChAS v.1.2.2
None
sajan_13_ACC/CBLH/PMG_discovery_cases
81.31% Caucasian
Solid phase hybridization
Illumina InfiniumII HumanHap610
PennCNV
None (not tested or failure to confirm by qPCR)
sanders_11_ASD_discovery_cases
White non-Hispanic, 74.5%; mixed, 9.3%, Asian, 4.3%, White Hispanic, 4.0%, African-American, 3.8%; other, 4.2&
Solid phase hybridization
Illumina 1M v1, Illumina 1M v3
PennCNV, QuantiSNP, GNOSIS
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
stamouli_18_ASD/NDD_discovery_cases
Swedish
Solid phase hybridization
Illumina Infinium PsychArray-24 v1.1
PennCNV, QuantiSNP, iPattern, iPsychCNV
None
xu_16_ASD/DD/ID_discovery_cases
N/A
aCGH, array SNP
BlueGnome CytoChip v2, Affymetrix 6.0, Affymetrix Cytoscan HD
Affymeytrix Genotyping Console v3.0.2
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
kanduri_15_ASD_discovery_controls
Finnish
Solid phase hybridization
Illumina Infinium HD Human610-Quad BeadChip
QuantiSNP, PennCNV
Illumina BeadStudio
None
krumm_13_ASD_discovery_controls
N/A
WES
Whole exome sequencing platforms used in four recent publications (O'Roak et al., 2011; Sanders et al., 2012; O'Roak et al., 2012, and Iossifov et al., 2012)
DNACopy, CGHCall
CoNIFER
None
krumm_15_ASD_discovery_controls
N/A
WES
CoNIFER, XHMM
Solid phase hybridization (Illumina 1M, 1 M Duo, or Omni 2.5)
leppa_16_ASD_discovery_controls
N/A
Solid phase hybridization
Illumina 550v1 and 550v3, Omni-1.0-B and -H, Omni 2.5
PennCNV, QuantiSNP, GNOSIS
GenomeStudio, CNVision
None
levy_11_ASD_discovery_controls
aCGH
NimbleGen HD2
HMM
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
stamouli_18_ASD/NDD_discovery_controls
Swedish
Solid phase hybridization
Illumina Infinium PsychArray-24 v1.1
PennCNV, QuantiSNP, iPattern, iPsychCNV
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
davis_09_ASD_discovery_cases-AU0616304
NA
NA
Non-syndromic ASD
Diagnosis: autism. Non-syndromic autism (no craniofacial dysmorphology, limb or digit malformation, or ocular abnormality).
63754685
63910615
155930
Unknown
Deletion
No
engchuan_15_ASD_discovery_cases-case13080_943
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
68179088
68228851
49764
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case14091_1550
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
68184970
68224184
39215
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case14128_2240
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
68184970
68224184
39215
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case14185_3040
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
68179088
68224184
45097
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case14249_3730
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
68179088
68228851
49764
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case14324_4380
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
68184970
68224184
39215
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case14356_4700
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
68184970
68224184
39215
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case14389_4980
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
68184970
68224184
39215
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case17022_1
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
65715200
67081089
1365890
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case18109_303
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
68019389
68868871
849483
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case20050_1272001
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
68184970
68224184
39215
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case3015_3
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
68184970
68224184
39215
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case3028_6
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
68179088
68228851
49764
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case3463_3
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
68184970
68224184
39215
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case3469_3
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
68175588
68228851
53264
GRCh38
Deletion
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)
68184970
68224184
39215
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case4254_1
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
68482082
68596502
114421
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case4261_1
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
66640795
66679183
38389
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case4319_1
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
68178412
68234729
56318
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case5042_4
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
68184970
68224184
39215
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case5082_4
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
68184970
68224184
39215
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case5523_3
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
64659295
64701910
42616
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case6209_3
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
68179088
68228851
49764
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case6219_4
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
68184970
68224184
39215
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case6230_5
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
68184970
68224184
39215
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case6275_3
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
68184970
68224184
39215
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case6413_4
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
68184970
68224184
39215
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case8500_201
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
68184970
68224184
39215
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case8552_203
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
66627829
66711719
83891
GRCh38
Deletion
No
gai_11_ASD_discovery_cases-AU1327305
Autism
61681120
62183443
502324
Unknown
Deletion
No
gai_11_ASD_discovery_cases-AU1608302
Autism
62722821
62822566
99746
Unknown
Deletion
No
gai_11_ASD_replication_cases-AU009904
Autism
61888147
61953133
64987
Unknown
Deletion
No
gai_11_ASD_replication_cases-AU0616301
Autism
63769001
63934626
165626
Unknown
Deletion
No
gai_11_ASD_replication_cases-AU0616302
Autism
63769001
63934626
165626
Unknown
Deletion
No
gai_11_ASD_replication_cases-AU0616303
Autism
63769001
63934626
165626
Unknown
Deletion
No
gai_11_ASD_replication_cases-AU0616304
Autism
63769578
63934626
165049
Unknown
Deletion
No
girirajan_13a_ASD_discovery_cases-14293.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
68031783
68861783
830001
GRCh38
Duplication
No
girirajan_13a_ASD_discovery_cases-AU1977303
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
68031783
68861783
830001
GRCh38
Duplication
No
halgren_12_DD/ID_discovery_cases-case1
27 yrs.
M
Developmental delay/intellectual disability (DD/ID)
Case diagnosed with behavioral disorder, oppositional defiant disorder, and mixed specific developmental disorder (all according to ICD-10) at age of 13 years; screening for major psychiatric disease using Mini International Diagnostic Interview (V5.0.0) that refers to DSM-IV at age of 27 years failed to yield single diagnosis. Patient karyotype: t(12;18)(q21.31;q12.2), inv18(q12.2q22.1).arr12q21.31(83,761,458-83,857,594)x1, 18q12.2(34,810,178-34,867,844)x1, 18q12.2(35,007,705-35,049,456)x1, 18q22.1(65,284,854-65,430,839)x1 dn. Birth/neonatal history: amniocentesis performed due to advanced maternal age (de novo translocation involving chromosomes 12 and 18 detected); born by uncomplicated vaginal delivery at 40 weeks; unremarkable neonatal period. Developmental milestones: walked independently at 12 months; no delay in language development; motor delay. Language and communication evaluation: no delay in language development. Motor and musculoskeletal evaluation: difficulties with complex motor tasks. Behavioral/psychiatric evaluation: diagnosed with hyperkinetic disorder at age of 6 (treated with methylphenidate); described as aggressive, with immature and oppositional behavior, having problems with impulsivity and attention shifting, and with lack of emotional reciprocity; signs of autistic behavior with indications of concrete thinking, impairment of social interaction skills, vagueness in description of others, lack of concentration over time, hyperactivity, and impulsive behavior; inability to develop peer relationships. Epilepsy/seizures: hospitalized at 23 months of age due to series of three febrile seizures (did not experience recurrent seizures, EEG not performed). Vision evaluation: myopia (estimated -3 diopters). Dysmorphic features: none. Growth parameters: height 180 cm, weight 110kg, head circumference 61 cm; BMI of 34 (obesity). Family history: second child of healthy unrelated parents.
Borderline IQ. IQ of 71 at age of 13 years (Weschler Intelligence Scale for Children-Revised).
67617617
67763602
145986
GRCh38
Deletion
No
itsara_10_ASD_discovery_cases-HI4952
NA
NA
Autism
NA
NA
68993876
69027979
34104
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000119
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
68059968
68865306
805339
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001115
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
66242508
66790270
547763
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002543
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
64884283
65612537
728255
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00003929
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
65192460
68134827
2942368
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004201
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
68059968
68865306
805339
GRCh38
Duplication
Yes
krumm_13_ASD_discovery_cases-case13726.p1
N/A
M
ASD
ASD proband from SSC quad family 13726. SRS score of 80.
Full-scale IQ (FSIQ) score of 61.
66543970
66544903
934
GRCh38
Deletion
No (not tested)
krumm_15_ASD_discovery_cases-case11381.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
66508994
66572204
63211
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_cases-case13503.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
68697225
68714981
17757
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_cases-case14293.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
66568415
68838926
2270512
GRCh38
Duplication
Yes
leppa_16_ASD_discovery_cases-AU1327305
N/A
M
ASD
65862764
66404763
542000
GRCh38
Deletion
No
levy_11_ASD_discovery_cases-11381.p1
NA
M
ASD
NA
NA
66508908
66614918
106011
GRCh38
Duplication
No
mosca_16_DCD_discovery_cases-case119303
N/A
M
DCD (with or without ADHD and/or RD)
Ancestry: unknown. Family history: maternal diagnosis unknown; paternal diagnosis unknown.
67784502
67898009
113508
GRCh38
Deletion
No
nord_11_ASD_discovery_cases-214-1
ASD
60532337
60784284
251948
Unknown
Duplication
No
pinto_10_ASD_discovery_cases-case5523_3
NA
F
ASD
NA
NA
64659295
64701910
42616
GRCh38
Deletion
Yes
poultney_13_ASD_discovery_cases-case01HI2157A
N/A
M
ASD
ASD case from AGRE (AGRE ID AU077904; NDAR ID NDAR_INVZM089ZKQ)
68697224
68713902
16679
GRCh38
Duplication
No
prasad_12_ASD_discovery_cases-case122712L
NA
F
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
60473010
60515174
42165
Unknown
Deletion
No
prasad_12_ASD_discovery_cases-case128860
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
64600057
64612561
12505
Unknown
Duplication
No
quintela_17_DD/ID_discovery_cases-caseID_249
4 yrs.
M
Intellectual disability
Additional clinical information N/A
Intellectual disability
67142048
67552630
410583
GRCh38
Duplication
No
sajan_13_ACC/CBLH/PMG_discovery_cases-caseLR01-342
N/A
N/A
CBLH
Diagnosis of cerebellar hypoplasia (CBLH).
67439167
67515155
75989
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11008.p1
15.3
M
Autism
NA
Full-scale IQ, 129; non-verbal IQ, 119; verbal IQ, 133
65534492
65538466
3975
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11025.p1
4.6
F
ASD
NA
Full-scale IQ, 98; non-verbal IQ, 102; verbal IQ, 92
65534492
65538466
3975
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11044.p1
5.5
M
Aspergers
NA
Full-scale IQ, 106; non-verbal IQ, 101; verbal IQ 112
65534492
65538466
3975
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11063.p1
9.3
M
Aspergers
NA
Full-scale IQ, 101; non-verbal IQ, 101; verbal IQ, 103
65534492
65538466
3975
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11089.p1
5.8
M
Autism
NA
Full-scale IQ, 40; non-verbal IQ, 41; verbal IQ, 39
68255664
68261994
6331
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11135.p1
6.3
M
Autism
NA
Full-scale IQ, 104; non-verbal IQ, 104; verbal IQ, 102
65534492
65538466
3975
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11148.p1
5.7
M
Autism
NA
Full-scale IQ, 86; non-verbal IQ, 82; verbal IQ, 99
64447840
64603380
155541
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11161.p1
7
M
Autism
NA
Full-scale IQ, 65; non-verbal IQ, 74; verbal IQ, 59
65527982
65542167
14186
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11193.p1
7.5
M
Autism
NA
Full-scale IQ, 125; non-verbal IQ, 138; verbal IQ, 91
65534492
65538466
3975
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11206.p1
6.1
M
Autism
NA
Full-scale IQ, 36; non-verbal IQ, 40; verbal IQ, 32
65534492
65538466
3975
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11216.p1
4.7
M
ASD
NA
Full-scale IQ, 77; non-verbal IQ, 97; verbal IQ, 57
68184970
68228851
43882
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11220.p1
12.1
F
Autism
NA
Full-scale IQ, 80; non-verbal IQ, 87; verbal IQ, 75
65534492
65538466
3975
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11233.p1
6.3
F
Autism
NA
Full-scale IQ, 57; non-verbal IQ, 60; verbal IQ, 65
65534492
65538466
3975
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11242.p1
5.8
M
Autism
NA
Full-scale IQ, 94; non-verbal IQ, 97; verbal IQ, 93
65534492
65541571
7080
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11245.p1
10.9
M
Autism
NA
Full-scale IQ, 111; non-verbal IQ, 107; verbal IQ, 117
68184970
68224184
39215
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11266.p1
4.3
F
Autism
NA
Full-scale IQ, 71; non-verbal IQ, 73; verbal IQ, 78
67788868
68076870
288003
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11283.p1
12
M
Autism
NA
Full-scale IQ, 117; non-verbal IQ, 132; verbal IQ 84
65534492
65538466
3975
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11294.p1
6.2
M
Autism
NA
Full-scale IQ, 80; non-verbal IQ, 79; verbal IQ 87
65926223
65926947
725
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11299.p1
6.4
M
Autism
NA
Full-scale IQ, 97; non-verbal IQ, 104; verbal IQ, 87
65534492
65538466
3975
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11305.p1
14.6
M
Autism
NA
Full-scale IQ, 41; non-verbal IQ, 35; verbal IQ, 60
66240665
66243710
3046
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11307.p1
16.1
M
Autism
NA
Full-scale IQ, 90; non-verbal IQ, 84; verbal IQ, 104
65534492
65538466
3975
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11321.p1
17.7
M
Autism
NA
Full-scale IQ, 12; non-verbal IQ, 17; verbal IQ, 7
65534492
65538466
3975
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11325.p1
15.6
M
Autism
NA
Full-scale IQ, 39; non-verbal IQ, 48; verbal IQ, 21
68184970
68224184
39215
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11327.p1
11.3
M
ASD
NA
Full-scale IQ, 84; non-verbal IQ, 86; verbal IQ, 83
68184970
68224184
39215
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11330.p1
10.5
M
Autism
NA
Full-scale IQ, 85; non-verbal IQ, 94; verbal IQ, 80
65970326
65972741
2416
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11345.p1
6.1
M
Autism
NA
Full-scale IQ, 114; non-verbal IQ, 120; verbal IQ, 100
67942742
68116409
173668
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11345.p1
6.1
M
Autism
NA
Full-scale IQ, 114; non-verbal IQ, 120; verbal IQ, 100
65534492
65538466
3975
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11347.p1
15.7
M
Autism
NA
Full-scale IQ, 59; non-verbal IQ, 75; verbal IQ, 37
65534492
65538466
3975
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11381.p1
5.6
M
Autism
NA
Full-scale IQ, 79; non-verbal IQ, 89; verbal IQ, 68
66509032
66608725
99694
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11396.p1
13.6
M
Autism
NA
Full-scale IQ, 124; non-verbal IQ, 124; verbal IQ, 118
65534492
65542167
7676
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11409.p1
4.1
M
Autism
NA
Full-scale IQ, 96; non-verbal IQ, 101; verbal IQ 90
65534492
65538466
3975
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11456.p1
8.8
M
Autism
NA
Full-scale IQ, 75; non-verbal IQ, 76; verbal IQ, 77
65534492
65538466
3975
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11475.p1
7.8
M
Autism
NA
Full-scale IQ, 94; non-verbal IQ, 86; verbal IQ, 110
65527982
65538466
10485
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11508.p1
8
M
Autism
NA
Full-scale IQ, 78; non-verbal IQ, 83; verbal IQ, 75
65534492
65538466
3975
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11510.p1
8.3
M
Autism
NA
Full-scale IQ, 87; non-verbal IQ, 81; verbal IQ, 103
66240665
66243710
3046
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11522.p1
11.3
M
Autism
NA
Full-scale IQ, 67; non-verbal IQ, 79; verbal IQ, 60
67384291
67420603
36313
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11538.p1
5.8
M
Autism
NA
Full-scale IQ, 88; non-verbal IQ, 93; verbal IQ, 85
65534492
65538466
3975
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11542.p1
12.5
F
Autism
NA
Full-scale IQ, 109; non-verbal IQ, 102; verbal IQ, 121
65534492
65538466
3975
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11545.p1
7.9
M
Autism
NA
Full-scale IQ, 103; non-verbal IQ, 114; verbal IQ, 83
65534492
65538466
3975
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11549.p1
12.2
M
Autism
NA
Full-scale IQ, 48; non-verbal IQ, 61; verbal IQ, 36
65534492
65538466
3975
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11573.p1
8.6
M
ASD
NA
Full-scale IQ, 68; non-verbal IQ, 85; verbal IQ, 51
65534492
65538466
3975
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11577.p1
14.5
M
Autism
NA
Full-scale IQ, 83; non-verbal IQ, 100; verbal IQ, 73
65534492
65538466
3975
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11590.p1
10.8
M
Autism
NA
Full-scale IQ, 97; non-verbal IQ, 102; verbal IQ, 98
66240665
66243710
3046
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11600.p1
14.8
M
Autism
NA
Full-scale IQ, 101; non-verbal IQ, 112; verbal IQ, 99
65534492
65538466
3975
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11620.p1
16.5
M
ASD
NA
Full-scale IQ, 102; non-verbal IQ, 119; verbal IQ, 110
64241590
64312992
71403
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11659.p1
6.4
F
Autism
NA
Full-scale IQ, 88; non-verbal IQ, 89; verbal IQ, 94
65534492
65538466
3975
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11680.p1
8
M
Autism
NA
Full-scale IQ, 71; non-verbal IQ, 82; verbal IQ, 54
66240665
66244124
3460
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11681.p1
5.1
M
Autism
NA
Full-scale IQ, 81; non-verbal IQ, 84; verbal IQ, 85
68184970
68224184
39215
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11691.p1
14.7
M
Autism
NA
Full-scale IQ, 59; non-verbal IQ, 62; verbal IQ, 54
65534492
65538466
3975
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11704.p1
9.3
M
Autism
NA
Full-scale IQ, 62; non-verbal IQ, 82; verbal IQ, 33
65534492
65538466
3975
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11711.p1
5.3
M
Autism
NA
Full-scale IQ, 94; non-verbal IQ, 97; verbal IQ, 93
65532329
65538466
6138
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11733.p1
5.5
F
Autism
NA
Full-scale IQ, 87; non-verbal IQ, 93; verbal IQ, 81
68178498
68232143
53646
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
65534492
65538466
3975
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
65534492
65538466
3975
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11776.p1
6.1
M
Autism
NA
Full-scale IQ, 56; non-verbal IQ, 51; verbal IQ, 76
64167893
64319349
151457
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11793.p1
16.8
M
Autism
NA
Full-scale IQ, 111; non-verbal IQ, 100; verbal IQ, 129
65534492
65542167
7676
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11806.p1
4.1
M
Autism
NA
Full-scale IQ, 105; non-verbal IQ, 106; verbal IQ, 102
65534492
65538466
3975
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11818.p1
12.1
M
Autism
NA
Full-scale IQ, 40; non-verbal IQ, 44; verbal IQ, 30
65534492
65538466
3975
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11834.p1
10.5
M
Autism
NA
Full-scale IQ, 76; non-verbal IQ, 93; verbal IQ, 46
66240665
66244124
3460
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11897.p1
5.9
M
Autism
NA
Full-scale IQ, 75; non-verbal IQ, 84; verbal IQ, 67
66240665
66243710
3046
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11897.p1
5.9
M
Autism
NA
Full-scale IQ, 75; non-verbal IQ, 84; verbal IQ, 67
65532329
65538466
6138
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11905.p1
11.2
M
Autism
NA
Full-scale IQ, 53; non-verbal IQ, 71; verbal IQ, 34
68184970
68224184
39215
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11924.p1
7.6
M
Autism
NA
Full-scale IQ, 87; non-verbal IQ, 105; verbal IQ, 74
66240665
66244124
3460
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11938.p1
4.5
M
Autism
NA
Full-scale IQ, 88; non-verbal IQ, 95; verbal IQ, 82
66688094
66726849
38756
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11941.p1
10.9
M
Autism
NA
Full-scale IQ, 85; non-verbal IQ, 87; verbal IQ, 86
65534492
65538466
3975
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11972.p1
8.5
F
Autism
NA
Full-scale IQ, 77; non-verbal IQ, 80; verbal IQ, 77
66240665
66244124
3460
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11977.p1
10.2
M
ASD
NA
Full-scale IQ, 74; non-verbal IQ, 74; verbal IQ, 80
65534492
65538466
3975
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12001.p1
5.1
M
Autism
NA
Full-scale IQ, 108; non-verbal IQ, 104; verbal IQ, 111
68184970
68224184
39215
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12009.p1
6.8
M
Autism
NA
Full-scale IQ, 78; non-verbal IQ, 87; verbal IQ, 69
68850062
68941588
91527
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12036.p1
9.6
M
Autism
NA
Full-scale IQ, 52; non-verbal IQ, 54; verbal IQ, 48
65534492
65538466
3975
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12058.p1
9.3
M
Autism
NA
Full-scale IQ, 133; non-verbal IQ, 122; verbal IQ, 139
68184970
68228851
43882
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12078.p1
9.2
M
ASD
NA
Full-scale IQ, 106; non-verbal IQ, 102; verbal IQ, 113
66240665
66244124
3460
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12102.p1
5.1
M
Autism
NA
Full-scale IQ, 45; non-verbal IQ, 52; verbal IQ, 38
65534492
65538466
3975
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12102.p1
5.1
M
Autism
NA
Full-scale IQ, 45; non-verbal IQ, 52; verbal IQ, 38
66044889
66049596
4708
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12114.p1
16.7
F
Autism
NA
Full-scale IQ, 99; non-verbal IQ, 85; verbal IQ, 123
66240665
66244124
3460
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12149.p1
5.3
M
Autism
NA
Full-scale IQ, 92; non-verbal IQ, 89; verbal IQ, 103
64258447
64280075
21629
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12192.p1
6.9
M
Autism
NA
Full-scale IQ, 127; non-verbal IQ, 130; verbal IQ, 115
65534492
65538466
3975
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12197.p1
5.8
M
Autism
NA
Full-scale IQ, 101; non-verbal IQ, 100; verbal IQ, 103
68184970
68230510
45541
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12202.p1
11.3
M
Autism
NA
Full-scale IQ, 115; non-verbal IQ, 106; verbal IQ, 128
65534492
65538466
3975
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12225.p1
15.3
M
Autism
NA
Full-scale IQ, 81; non-verbal IQ, 89; verbal IQ, 77
65534492
65538466
3975
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12260.p1
5.3
M
Autism
NA
Full-scale IQ, 106; non-verbal IQ, 103; verbal IQ, 109
65534492
65538466
3975
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12272.p1
5.4
M
Autism
NA
Full-scale IQ, 70; non-verbal IQ, 79; verbal IQ, 62
67980406
68029827
49422
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12281.p1
4.3
M
Autism
NA
Full-scale IQ, 107; non-verbal IQ, 99; verbal IQ, 117
64954445
64963479
9035
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12286.p1
4.8
M
Autism
NA
Full-scale IQ, 108; non-verbal IQ, 104; verbal IQ, 111
67494769
67503300
8532
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12303.p1
9.3
M
Autism
NA
Full-scale IQ, 79; non-verbal IQ, 74; verbal IQ, 96
66240665
66244124
3460
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12315.p1
5.8
M
ASD
NA
Full-scale IQ, 53; non-verbal IQ, 54; verbal IQ, 61
66240665
66244124
3460
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12327.p1
14.6
M
Autism
NA
Full-scale IQ, 97; non-verbal IQ, 108; verbal IQ, 83
64447840
64603380
155541
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12332.p1
12.3
M
ASD
NA
Full-scale IQ, 107; non-verbal IQ, 101; verbal IQ, 119
66240665
66244124
3460
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
68216062
68256790
40729
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12359.p1
9.3
M
Autism
NA
Full-scale IQ, 78; non-verbal IQ, 87; verbal IQ, 69
66240665
66244124
3460
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12383.p1
9
M
Autism
NA
Full-scale IQ, 101; non-verbal IQ, 88; verbal IQ, 90
65534492
65538466
3975
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12396.p1
8.3
M
Autism
NA
Full-scale IQ, 99; non-verbal IQ, 98; verbal IQ, 101
65534492
65538466
3975
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12409.p1
10.8
M
Autism
NA
Full-scale IQ, 107; non-verbal IQ, 106; verbal IQ, 109
65534492
65538466
3975
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12430.p1
9.8
F
Autism
NA
Full-scale IQ, 109; non-verbal IQ, 110; verbal IQ, 106
66240665
66244124
3460
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12445.p1
10.9
M
Autism
NA
Full-scale IQ, 104; non-verbal IQ, 111; verbal IQ, 91
68184970
68231763
46794
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12532.p1
11.8
M
Autism
NA
Full-scale IQ, 121; non-verbal IQ, 110; verbal IQ, 135
65534492
65538466
3975
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12552.p1
8.7
M
Autism
NA
Full-scale IQ, 104; non-verbal IQ, 107; verbal IQ, 98
66240665
66244124
3460
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12561.p1
5.8
M
Autism
NA
Full-scale IQ, 102; non-verbal IQ, 101; verbal IQ, 103
65534492
65538466
3975
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12581.p1
12.4
F
Autism
NA
Full-scale IQ, 34; non-verbal IQ, 34; verbal IQ, 35
65534492
65538466
3975
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12616.p1
4.3
M
Autism
NA
Full-scale IQ, 111; non-verbal IQ, 113; verbal IQ, 104
65534492
65538466
3975
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12682.p1
9.7
M
Autism
NA
Full-scale IQ, 92; non-verbal IQ, 93; verbal IQ, 92
65534492
65538466
3975
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12701.p1
6.7
M
Autism
NA
Full-scale IQ, 73; non-verbal IQ, 77; verbal IQ, 74
65534492
65538466
3975
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12708.p1
10.3
M
Autism
NA
Full-scale IQ, 79; non-verbal IQ, 91; verbal IQ, 63
65534492
65538466
3975
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12740.p1
4.3
M
Autism
NA
Full-scale IQ, 122; non-verbal IQ, 113; verbal IQ, 131
65686399
65759743
73345
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12757.p1
5.3
M
Autism
NA
Full-scale IQ, 57; non-verbal IQ, 62; verbal IQ, 55
65534492
65538466
3975
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12901.p1
5.4
M
Autism
NA
Full-scale IQ, 116; non-verbal IQ, 116; verbal IQ, 110
64258447
64328613
70167
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12956.p1
5.1
M
Autism
NA
Full-scale IQ, 84; non-verbal IQ, 91; verbal IQ, 80
66240665
66244124
3460
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12962.p1
11.3
M
Autism
NA
Full-scale IQ, 79; non-verbal IQ, 82; verbal IQ, 78
65534492
65538466
3975
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-13007.p1
13.6
M
Autism
NA
Full-scale IQ, 91; non-verbal IQ, 107; verbal IQ, 67
68184970
68228851
43882
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-13018.p1
12.8
M
Autism
NA
Full-scale IQ, 78; non-verbal IQ, 82; verbal IQ, 75
65534492
65538466
3975
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-13038.p1
8.8
M
Autism
NA
Full-scale IQ, 96; non-verbal IQ, 94; verbal IQ, 100
65534492
65538466
3975
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-13053.p1
4.6
M
Autism
NA
Full-scale IQ, 43; non-verbal IQ, 49; verbal IQ, 25
66240665
66244124
3460
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-13065.p1
5.6
M
Autism
NA
Full-scale IQ, 91; non-verbal IQ, 101; verbal IQ, 81
65534492
65542167
7676
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-13093.p1
13.9
M
Autism
NA
Full-scale IQ, 167; non-verbal IQ, 161; verbal IQ, 153
65534492
65538466
3975
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-13153.p1
9.3
M
Autism
NA
Full-scale IQ, 75; non-verbal IQ, 86; verbal IQ, 59
65534492
65538466
3975
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-13159.p1
11.3
M
Autism
NA
Full-scale IQ, 79; non-verbal IQ, 95; verbal IQ, 55
65534492
65542167
7676
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
65534492
65538466
3975
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-13222.p1
17.1
F
Autism
NA
Full-scale IQ, 87; non-verbal IQ, 86; verbal IQ, 93
66240665
66244124
3460
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
65534492
65538466
3975
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-13251.p1
7.7
F
Autism
NA
Full-scale IQ, 95; non-verbal IQ, 93; verbal IQ, 102
66240665
66244124
3460
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-13294.p1
5.8
M
Autism
NA
Full-scale IQ, 87; non-verbal IQ, 92; verbal IQ, 83
65534492
65538466
3975
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-13303.p1
5.6
F
ASD
NA
Full-scale IQ, 101; non-verbal IQ, 107; verbal IQ, 90
66240665
66244124
3460
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-13324.p1
4.9
M
Autism
NA
Full-scale IQ, 83; non-verbal IQ, 89; verbal IQ, 78
65961649
65974842
13194
GRCh38
Deletion
No
soueid_16_ASD_discovery_cases-caseLAS15
N/A
M
Autism
Case fulfilled DSM-V criteria for autism; no other information available
66403036
66627653
224618
GRCh38
Deletion
No
stamouli_18_ASD/NDD_discovery_cases-family28_Twin_1
N/A
N/A
NDD
Case is from a dizygotic twin pair from the Concordant NDD diagnostic group
65242825
67155973
1913149
GRCh38
Deletion
No
stamouli_18_ASD/NDD_discovery_cases-family48_Twin_2
N/A
N/A
NDD
Case is from a monozygotic twin pair from the Discordant NDD diagnostic group
67588936
68035066
446131
GRCh38
Duplication
No
xu_16_ASD/DD/ID_discovery_cases-case14
N/A
N/A
ASD
Case with confirmed primary diagnosis of ASD (DSM-IV, DSM-5, ADOS, and ADI-R used to support ASD diagnosis)
66280720
66545884
265165
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-control110036016038_
N/A
N/A
Control
No previous psychiatric history
67942742
68116409
173668
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-control110036019107_
N/A
N/A
Control
No previous psychiatric history
68184970
68224184
39215
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-control110036019552_
N/A
N/A
Control
No previous psychiatric history
68184970
68224184
39215
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-control110036020873_
N/A
N/A
Control
No previous psychiatric history
68184970
68224184
39215
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlB100121_1007854727
N/A
N/A
Control
No previous psychiatric history
68184970
68224184
39215
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlB271690_1007873316
N/A
N/A
Control
No previous psychiatric history
65462437
65511125
48689
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlB306817_1007874015
N/A
N/A
Control
No previous psychiatric history
68184970
68224184
39215
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlB428062_1007840509
N/A
N/A
Control
No previous psychiatric history
68184970
68228851
43882
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlB435341_1007840517
N/A
N/A
Control
No previous psychiatric history
68184970
68224184
39215
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlB479722_1007875261
N/A
N/A
Control
No previous psychiatric history
68184970
68224184
39215
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlB522296_1007854251
N/A
N/A
Control
No previous psychiatric history
68184970
68224184
39215
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlB671643_1007873714
N/A
N/A
Control
No previous psychiatric history
68833759
68867575
33817
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlB681968_1007853271
N/A
N/A
Control
No previous psychiatric history
68184970
68224184
39215
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlB774671_0067942570
N/A
N/A
Control
No previous psychiatric history
68184970
68224184
39215
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlB799314_0057057099
N/A
N/A
Control
No previous psychiatric history
68184970
68224184
39215
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlB828423_1007875117
N/A
N/A
Control
No previous psychiatric history
68184970
68224184
39215
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlB948702_1007854260
N/A
N/A
Control
No previous psychiatric history
68184970
68224184
39215
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlB986243_1007853916
N/A
N/A
Control
No previous psychiatric history
68184970
68224184
39215
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlHABC_900041_900041
N/A
N/A
Control
No previous psychiatric history
68019389
68863126
843738
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlHABC_900083_900083
N/A
N/A
Control
No previous psychiatric history
64447840
64603380
155541
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlHABC_900705_900705
N/A
N/A
Control
No previous psychiatric history
68184970
68224184
39215
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlHABC_901054_901054
N/A
N/A
Control
No previous psychiatric history
68184970
68224184
39215
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlHABC_901137_901137
N/A
N/A
Control
No previous psychiatric history
67651162
67789743
138582
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlHABC_901230_901230
N/A
N/A
Control
No previous psychiatric history
68184970
68224184
39215
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlHABC_902552_902552
N/A
N/A
Control
No previous psychiatric history
64158945
64312992
154048
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlHABC_902674_902674
N/A
N/A
Control
No previous psychiatric history
69014679
69050270
35592
GRCh38
Deletion
No
kanduri_15_ASD_discovery_controls-control_split1183
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
64084918
64334903
249986
Unknown
Deletion
No
kanduri_15_ASD_discovery_controls-control_split1408
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
65256173
65657162
400990
Unknown
Duplication
No
kanduri_15_ASD_discovery_controls-control_split1551
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
64084918
64334903
249986
Unknown
Deletion
No
kanduri_15_ASD_discovery_controls-control_split1801
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
65256173
65669704
413532
Unknown
Duplication
No
kanduri_15_ASD_discovery_controls-control_split242
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
64820011
65006018
186008
Unknown
Duplication
No
kanduri_15_ASD_discovery_controls-control_split797
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
65258604
65669704
411101
Unknown
Duplication
No
krumm_13_ASD_discovery_controls-control13726.s1
N/A
M
Control
Unaffected sibling from SSC quad family 13726. SRS score of 45.
66543970
66544903
934
GRCh38
Deletion
No (not tested)
krumm_15_ASD_discovery_controls-control11381.s1
N/A
Male
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
66508994
66572204
63211
GRCh38
Duplication
Yes
leppa_16_ASD_discovery_controls-AU1327301
N/A
F
Control
Unaffected sibling
65862764
66404763
542000
GRCh38
Deletion
No
levy_11_ASD_discovery_controls-11381.s1
NA
M
Control
NA
NA
66508908
66614918
106011
GRCh38
Duplication
No
poultney_13_ASD_discovery_controls-control05C41920
N/A
M
Control
NIMH Control (NIMH ID 55831)
65809702
66529968
720267
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11009.s1
7.6
M
Control (matched sibling)
NA
NA
65534492
65538466
3975
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11027.s1
5.8
M
Control (matched sibling)
NA
NA
65534492
65538466
3975
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11063.s1
7.3
M
Control (matched sibling)
NA
NA
65534492
65538466
3975
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11090.s1
14.8
M
Control (matched sibling)
NA
NA
65534492
65542167
7676
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11135.s1
12.9
F
Control (matched sibling)
NA
NA
65534492
65538466
3975
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11181.s1
4.3
F
Control (matched sibling)
NA
NA
65534492
65538466
3975
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11206.s1
8.3
F
Control (matched sibling)
NA
NA
65534492
65538466
3975
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11216.s1
6.4
M
Control (matched sibling)
NA
NA
68184970
68230510
45541
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11229.s1
6.1
M
Control (matched sibling)
NA
NA
65534492
65542167
7676
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11242.s1
10.6
M
Control (matched sibling)
NA
NA
65534492
65538466
3975
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11266.s1
5.8
F
Control (matched sibling)
NA
NA
67788868
68076870
288003
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11299.s1
4.3
M
Control (matched sibling)
NA
NA
65534492
65538466
3975
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11307.s1
13.1
M
Control (matched sibling)
NA
NA
65534492
65538466
3975
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11318.s1
5.7
M
Control (matched sibling)
NA
NA
65534492
65542167
7676
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11327.s1
9.5
F
Control (matched sibling)
NA
NA
68184970
68224184
39215
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11330.s1
11.8
F
Control (matched sibling)
NA
NA
65970326
65972741
2416
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11353.s1
6.8
M
Control (matched sibling)
NA
NA
68408318
68410948
2631
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11381.s1
7.4
M
Control (matched sibling)
NA
NA
66509032
66613050
104019
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11382.s1
11.3
F
Control (matched sibling)
NA
NA
68979322
69001755
22434
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11396.s1
6.6
M
Control (matched sibling)
NA
NA
65534492
65538466
3975
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11456.s1
11.3
M
Control (matched sibling)
NA
NA
65534492
65538466
3975
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11462.s1
6.5
M
Control (matched sibling)
NA
NA
65534492
65538466
3975
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11542.s1
14.6
F
Control (matched sibling)
NA
NA
65534492
65538466
3975
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11544.s1
17.7
M
Control (matched sibling)
NA
NA
68184970
68230510
45541
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11569.s1
5.6
M
Control (matched sibling)
NA
NA
66240665
66243710
3046
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11590.s1
7.9
F
Control (matched sibling)
NA
NA
64489029
64490550
1522
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11622.s1
11.1
F
Control (matched sibling)
NA
NA
64373756
64431233
57478
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11707.s1
15.1
F
Control (matched sibling)
NA
NA
65534492
65538466
3975
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11711.s1
7
M
Control (matched sibling)
NA
NA
65534492
65538466
3975
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11753.s1
15.1
F
Control (matched sibling)
NA
NA
65534492
65538466
3975
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11768.s1
7
F
Control (matched sibling)
NA
NA
65534492
65538466
3975
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11775.s1
12.7
F
Control (matched sibling)
NA
NA
65534492
65538466
3975
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11834.s1
8.3
M
Control (matched sibling)
NA
NA
65534492
65538466
3975
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11863.s1
8
F
Control (matched sibling)
NA
NA
65534492
65538466
3975
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11897.s1
8
M
Control (matched sibling)
NA
NA
65534492
65538466
3975
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11924.s1
9.7
F
Control (matched sibling)
NA
NA
66240665
66244124
3460
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11947.s1
14.5
M
Control (matched sibling)
NA
NA
65534492
65538466
3975
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11998.s1
6.8
M
Control (matched sibling)
NA
NA
68184970
68230510
45541
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12001.s1
6.3
F
Control (matched sibling)
NA
NA
68184970
68224184
39215
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12036.s1
5.9
F
Control (matched sibling)
NA
NA
66240665
66244124
3460
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12197.s1
5.8
F
Control (matched sibling)
NA
NA
68184970
68234399
49430
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12240.s1
6.7
F
Control (matched sibling)
NA
NA
65534492
65538466
3975
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-12261.s1
21.5
M
Control (matched sibling)
NA
NA
65534492
65538466
3975
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12271.s1
9.1
M
Control (matched sibling)
NA
NA
65534492
65538466
3975
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-12317.s1
10.8
F
Control (matched sibling)
NA
NA
65534492
65538466
3975
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-12337.s1
13.3
M
Control (matched sibling)
NA
NA
68216062
68261659
45598
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12383.s1
12.8
M
Control (matched sibling)
NA
NA
65534492
65538466
3975
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-12403.s1
9.7
F
Control (matched sibling)
NA
NA
66240665
66244124
3460
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12430.s1
8.3
M
Control (matched sibling)
NA
NA
65534492
65538466
3975
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-12435.s1
9
F
Control (matched sibling)
NA
NA
66240665
66244124
3460
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12552.s1
4.2
M
Control (matched sibling)
NA
NA
66240665
66244124
3460
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12561.s1
7.8
F
Control (matched sibling)
NA
NA
65534492
65538466
3975
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-12565.s1
8.6
M
Control (matched sibling)
NA
NA
65534492
65538466
3975
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-12582.s1
9.2
M
Control (matched sibling)
NA
NA
66240665
66244124
3460
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12605.s1
13.3
M
Control (matched sibling)
NA
NA
65534492
65538466
3975
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-12637.s1
5
M
Control (matched sibling)
NA
NA
65961649
65974842
13194
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12669.s1
13.2
M
Control (matched sibling)
NA
NA
65534492
65538466
3975
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-12682.s1
8.1
M
Control (matched sibling)
NA
NA
65534492
65538466
3975
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-12704.s1
6.4
F
Control (matched sibling)
NA
NA
65534492
65538466
3975
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-12708.s1
11.8
F
Control (matched sibling)
NA
NA
65534492
65538466
3975
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-12736.s1
7.1
F
Control (matched sibling)
NA
NA
66240665
66244124
3460
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12832.s1
4.5
F
Control (matched sibling)
NA
NA
65534492
65538466
3975
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12894.s1
4.9
F
Control (matched sibling)
NA
NA
65534492
65538466
3975
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-12901.s1
4.1
M
Control (matched sibling)
NA
NA
64258447
64328613
70167
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12984.s1
12
M
Control (matched sibling)
NA
NA
68184970
68224184
39215
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12989.s1
11.4
F
Control (matched sibling)
NA
NA
66240665
66244124
3460
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-13120.s1
6.2
M
Control (matched sibling)
NA
NA
66240665
66244124
3460
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-13153.s1
11.8
M
Control (matched sibling)
NA
NA
65534492
65538466
3975
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-13166.s1
5.6
M
Control (matched sibling)
NA
NA
65534492
65538466
3975
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-13251.s1
6.3
F
Control (matched sibling)
NA
NA
66240665
66244124
3460
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-13303.s1
17.5
M
Control (matched sibling)
NA
NA
66240665
66244124
3460
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-13324.s1
16.3
M
Control (matched sibling)
NA
NA
65961649
65974842
13194
GRCh38
Deletion
No
stamouli_18_ASD/NDD_discovery_controls-family48_Twin_1
N/A
N/A
Control
Control is from a monozygotic twin pair from the Discordant NDD diagnostic subgroup
67596536
68025155
428620
GRCh38
Duplication
No
Cases
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
davis_09_ASD_discovery_cases-AU0616304
Unknown
Unknown
Unknown
0 genes
engchuan_15_ASD_discovery_cases-case13080_943
Unknown
engchuan_15_ASD_discovery_cases-case14091_1550
Unknown
engchuan_15_ASD_discovery_cases-case14128_2240
Unknown
engchuan_15_ASD_discovery_cases-case14185_3040
Unknown
engchuan_15_ASD_discovery_cases-case14249_3730
Unknown
engchuan_15_ASD_discovery_cases-case14324_4380
Unknown
engchuan_15_ASD_discovery_cases-case14356_4700
Unknown
engchuan_15_ASD_discovery_cases-case14389_4980
Unknown
engchuan_15_ASD_discovery_cases-case17022_1
Unknown
PRPF19P1,RNU6-1037P,CDH7,CDH19
engchuan_15_ASD_discovery_cases-case18109_303
Unknown
LINC01912,AKR1B10P2,RNU6-39P,SDHCP1,TMX3,CCDC102B
engchuan_15_ASD_discovery_cases-case20050_1272001
Unknown
engchuan_15_ASD_discovery_cases-case3015_3
Unknown
engchuan_15_ASD_discovery_cases-case3028_6
Unknown
engchuan_15_ASD_discovery_cases-case3463_3
Unknown
engchuan_15_ASD_discovery_cases-case3469_3
Unknown
engchuan_15_ASD_discovery_cases-case4027_100
Unknown
engchuan_15_ASD_discovery_cases-case4254_1
Unknown
engchuan_15_ASD_discovery_cases-case4261_1
Unknown
engchuan_15_ASD_discovery_cases-case4319_1
Unknown
engchuan_15_ASD_discovery_cases-case5042_4
Unknown
engchuan_15_ASD_discovery_cases-case5082_4
Unknown
engchuan_15_ASD_discovery_cases-case5523_3
Unknown
engchuan_15_ASD_discovery_cases-case6209_3
Unknown
engchuan_15_ASD_discovery_cases-case6219_4
Unknown
engchuan_15_ASD_discovery_cases-case6230_5
Unknown
engchuan_15_ASD_discovery_cases-case6275_3
Unknown
engchuan_15_ASD_discovery_cases-case6413_4
Unknown
engchuan_15_ASD_discovery_cases-case8500_201
Unknown
engchuan_15_ASD_discovery_cases-case8552_203
Unknown
gai_11_ASD_discovery_cases-AU1327305
Inherited
CDH7
gai_11_ASD_discovery_cases-AU1608302
Inherited
0 genes
gai_11_ASD_replication_cases-AU009904
Inherited
0 genes
gai_11_ASD_replication_cases-AU0616301
Inherited
0 genes
gai_11_ASD_replication_cases-AU0616302
Inherited
0 genes
gai_11_ASD_replication_cases-AU0616303
Inherited
0 genes
gai_11_ASD_replication_cases-AU0616304
Inherited
0 genes
girirajan_13a_ASD_discovery_cases-14293.p1
Unknown
Simplex
Unknown
LINC01912,AKR1B10P2,RNU6-39P,TMX3,CCDC102B
girirajan_13a_ASD_discovery_cases-AU1977303
Unknown
Multiplex
Unknown
LINC01912,AKR1B10P2,RNU6-39P,TMX3,CCDC102B
halgren_12_DD/ID_discovery_cases-case1
De novo
Simplex
Likely segregated
itsara_10_ASD_discovery_cases-HI4952
aCGH (custom NimbleGen 12 X 135)
De novo
Multiplex
CCDC102B
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000119
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
LINC01912,AKR1B10P2,RNU6-39P,TMX3,CCDC102B
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001115
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
CDH19
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002543
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
De novo
Unknown
Unknown
LINC01916
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00003929
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
PRPF19P1,RNU6-1037P,MIR5011,RPL31P9,DSEL,LINC01916,LINC01903,CDH7,CDH19
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004201
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Maternal
Unknown
Unknown
LINC01912,AKR1B10P2,RNU6-39P,TMX3,CCDC102B
krumm_13_ASD_discovery_cases-case13726.p1
Maternal
Simplex
Not segregated
CDH19
krumm_15_ASD_discovery_cases-case11381.p1
Illumina 1M
Maternal
Simplex
Not segregated (CNV in unaffected sibling)
CDH19
krumm_15_ASD_discovery_cases-case13503.p1
1M-Duov3
Maternal
Simplex
Segregated
TMX3
krumm_15_ASD_discovery_cases-case14293.p1
Omni2.5-4v1
Maternal
Simplex
Segregated
RNU6-1037P,MIR5011,RPL31P9,DSEL,LINC01912,AKR1B10P2,LINC01903,CDH19,TMX3,CCDC102B
leppa_16_ASD_discovery_cases-AU1327305
Paternal
Multiplex
Not segregated (CNV present in unaffected sibling AU1327301 and not present in affected sibling)
PRPF19P1,CDH7
levy_11_ASD_discovery_cases-11381.p1
Maternal
Simplex
Not segregated
CDH19
mosca_16_DCD_discovery_cases-case119303
Unknown
Unknown
Unknown
LINC01903
nord_11_ASD_discovery_cases-214-1
Maternal
0 genes
pinto_10_ASD_discovery_cases-case5523_3
Agilent1M
paternal
NA
NA
poultney_13_ASD_discovery_cases-case01HI2157A
Unknown
Unknown (likely multiplex/AGRE)
Unknown
TMX3
prasad_12_ASD_discovery_cases-case122712L
Unknown
Unknown
Unknown
0 genes
prasad_12_ASD_discovery_cases-case128860
Unknown
Unknown
Unknown
CCDC102B
quintela_17_DD/ID_discovery_cases-caseID_249
Unknown
Unknown
DSEL
sajan_13_ACC/CBLH/PMG_discovery_cases-caseLR01-342
qPCR (CNV not detected)
Biparental/Diploid copy number
Unknown
Unknown
DSEL
sanders_11_ASD_discovery_cases-11008.p1
Paternal
Simplex (quad-proband matched)
Segregated
sanders_11_ASD_discovery_cases-11025.p1
Maternal
Simplex (trio)
NA
sanders_11_ASD_discovery_cases-11044.p1
Maternal
Simplex (trio)
NA
sanders_11_ASD_discovery_cases-11063.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11089.p1
Paternal
Simplex (quad-proband matched)
Segregated
LINC01912
sanders_11_ASD_discovery_cases-11135.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11148.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11161.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11193.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11206.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11216.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11220.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11233.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11242.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11245.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11266.p1
Maternal
Simplex (quad-proband matched)
Not segregated
LINC01903
sanders_11_ASD_discovery_cases-11283.p1
Paternal
Simplex (quad-proband unmatched)
Unknown
sanders_11_ASD_discovery_cases-11294.p1
Maternal
Simplex (trio)
NA
sanders_11_ASD_discovery_cases-11299.p1
Both parents
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11305.p1
Both parents
Simplex (quad-proband matched)
Segregated
sanders_11_ASD_discovery_cases-11307.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11321.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11325.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11327.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11330.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11345.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11345.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11347.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11381.p1
Maternal
Simplex (quad-proband matched)
Not segregated
CDH19
sanders_11_ASD_discovery_cases-11396.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11409.p1
Both parents
Simplex (trio)
NA
sanders_11_ASD_discovery_cases-11456.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11475.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11508.p1
Paternal
Simplex (quad-proband unmatched)
Unknown
sanders_11_ASD_discovery_cases-11510.p1
Both parents
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11522.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11538.p1
Both parents
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11542.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11545.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11549.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11573.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11577.p1
Paternal
Simplex (quad-proband unmatched)
Unknown
sanders_11_ASD_discovery_cases-11590.p1
Both parents
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11600.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11620.p1
Maternal
Simplex (quad-proband matched)
Not segregated
LINC01924,LINC01538
sanders_11_ASD_discovery_cases-11659.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11680.p1
Paternal
Simplex (trio)
NA
sanders_11_ASD_discovery_cases-11681.p1
Maternal
Simplex (trio)
NA
sanders_11_ASD_discovery_cases-11691.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11704.p1
Paternal
Simplex (trio)
NA
sanders_11_ASD_discovery_cases-11711.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11733.p1
Maternal
Simplex (trio)
NA
sanders_11_ASD_discovery_cases-11753.p1
Maternal
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-11776.p1
Paternal
Simplex (trio)
NA
LINC01924,LINC01538
sanders_11_ASD_discovery_cases-11793.p1
Both parents
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11806.p1
Both parents
Simplex (trio)
NA
sanders_11_ASD_discovery_cases-11818.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11834.p1
Both parents
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11897.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11897.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11905.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11924.p1
Both parents
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11938.p1
Paternal
Simplex (trio)
NA
sanders_11_ASD_discovery_cases-11941.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11972.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11977.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12001.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12009.p1
Maternal
Simplex (trio)
NA
RNU6-39P,SDHCP1,CCDC102B
sanders_11_ASD_discovery_cases-12036.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12058.p1
Maternal
Simplex (trio)
NA
sanders_11_ASD_discovery_cases-12078.p1
Unknown
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12102.p1
Paternal
Simplex (trio)
NA
sanders_11_ASD_discovery_cases-12102.p1
Maternal
Simplex (trio)
NA
sanders_11_ASD_discovery_cases-12114.p1
Paternal
Simplex (trio)
NA
sanders_11_ASD_discovery_cases-12149.p1
Paternal
Simplex (trio)
NA
LINC01924,LINC01538
sanders_11_ASD_discovery_cases-12192.p1
Paternal
Simplex (trio)
NA
sanders_11_ASD_discovery_cases-12197.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12202.p1
Both parents
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12225.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12260.p1
Paternal
Simplex (trio)
NA
sanders_11_ASD_discovery_cases-12272.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12281.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12286.p1
Paternal
Simplex (trio)
NA
sanders_11_ASD_discovery_cases-12303.p1
Unknown
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12315.p1
Paternal
Simplex (trio)
NA
sanders_11_ASD_discovery_cases-12327.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12332.p1
Paternal
Simplex (trio)
NA
sanders_11_ASD_discovery_cases-12337.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12359.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12383.p1
Both parents
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12396.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12409.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12430.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12445.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12532.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12552.p1
Both parents
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12561.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12581.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12616.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12682.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12701.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12708.p1
Both parents
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12740.p1
Maternal
Simplex (trio)
NA
CDH7
sanders_11_ASD_discovery_cases-12757.p1
Paternal
Simplex (trio)
NA
sanders_11_ASD_discovery_cases-12901.p1
Unknown
Simplex (quad-proband matched)
Not segregated
LINC01924,LINC01538
sanders_11_ASD_discovery_cases-12956.p1
Both parents
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12962.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-13007.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-13018.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-13038.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-13053.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-13065.p1
Both parents
Simplex (trio)
NA
sanders_11_ASD_discovery_cases-13093.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-13153.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-13159.p1
Both parents
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-13216.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-13222.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-13226.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-13251.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-13294.p1
Paternal
Simplex (trio)
NA
sanders_11_ASD_discovery_cases-13303.p1
Both parents
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-13324.p1
Paternal
Simplex (quad-proband matched)
Not segregated
soueid_16_ASD_discovery_cases-caseLAS15
Maternal
Simplex
CDH19
stamouli_18_ASD/NDD_discovery_cases-family28_Twin_1
Unknown
Multiplex
Not segregated (CNV not present in affected twin)
PRPF19P1,RNU6-1037P,MIR5011,RPL31P9,LINC01916,CDH7,CDH19
stamouli_18_ASD/NDD_discovery_cases-family48_Twin_2
Unknown
Simplex
Not segregated (CNV also present in unaffected twin)
LINC01903
xu_16_ASD/DD/ID_discovery_cases-case14
Unknown (not maternal)
CDH19
Controls
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
engchuan_15_ASD_discovery_controls-control110036016038_
Unknown
engchuan_15_ASD_discovery_controls-control110036019107_
Unknown
engchuan_15_ASD_discovery_controls-control110036019552_
Unknown
engchuan_15_ASD_discovery_controls-control110036020873_
Unknown
engchuan_15_ASD_discovery_controls-controlB100121_1007854727
Unknown
engchuan_15_ASD_discovery_controls-controlB271690_1007873316
Unknown
engchuan_15_ASD_discovery_controls-controlB306817_1007874015
Unknown
engchuan_15_ASD_discovery_controls-controlB428062_1007840509
Unknown
engchuan_15_ASD_discovery_controls-controlB435341_1007840517
Unknown
engchuan_15_ASD_discovery_controls-controlB479722_1007875261
Unknown
engchuan_15_ASD_discovery_controls-controlB522296_1007854251
Unknown
engchuan_15_ASD_discovery_controls-controlB671643_1007873714
Unknown
RNU6-39P,SDHCP1,CCDC102B
engchuan_15_ASD_discovery_controls-controlB681968_1007853271
Unknown
engchuan_15_ASD_discovery_controls-controlB774671_0067942570
Unknown
engchuan_15_ASD_discovery_controls-controlB799314_0057057099
Unknown
engchuan_15_ASD_discovery_controls-controlB828423_1007875117
Unknown
engchuan_15_ASD_discovery_controls-controlB948702_1007854260
Unknown
engchuan_15_ASD_discovery_controls-controlB986243_1007853916
Unknown
engchuan_15_ASD_discovery_controls-controlHABC_900041_900041
Unknown
LINC01912,AKR1B10P2,RNU6-39P,TMX3,CCDC102B
engchuan_15_ASD_discovery_controls-controlHABC_900083_900083
Unknown
engchuan_15_ASD_discovery_controls-controlHABC_900705_900705
Unknown
engchuan_15_ASD_discovery_controls-controlHABC_901054_901054
Unknown
engchuan_15_ASD_discovery_controls-controlHABC_901137_901137
Unknown
engchuan_15_ASD_discovery_controls-controlHABC_901230_901230
Unknown
engchuan_15_ASD_discovery_controls-controlHABC_902552_902552
Unknown
LINC01924,LINC01538
engchuan_15_ASD_discovery_controls-controlHABC_902674_902674
Unknown
CCDC102B
kanduri_15_ASD_discovery_controls-control_split1183
Unknown
CDH19
kanduri_15_ASD_discovery_controls-control_split1408
Unknown
LOC643542 (non-coding RNA, exonic)
kanduri_15_ASD_discovery_controls-control_split1551
Unknown
CDH19
kanduri_15_ASD_discovery_controls-control_split1801
Unknown
LOC643542 (non-coding RNA, exonic)
kanduri_15_ASD_discovery_controls-control_split242
Unknown
Intergenic CNV: nearest genes, MIR5011(dist=71088),DSEL(dist=167801)
kanduri_15_ASD_discovery_controls-control_split797
Unknown
LOC643542 (non-coding RNA, exonic)
krumm_13_ASD_discovery_controls-control13726.s1
Maternal
Simplex
CDH19
krumm_15_ASD_discovery_controls-control11381.s1
Illumina 1M
Maternal
CDH19
leppa_16_ASD_discovery_controls-AU1327301
Paternal
Multiplex
PRPF19P1,CDH7
levy_11_ASD_discovery_controls-11381.s1
Maternal
Simplex
NA
CDH19
poultney_13_ASD_discovery_controls-control05C41920
Unknown
PRPF19P1,CDH7,CDH19
sanders_11_ASD_discovery_controls-11009.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11027.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11063.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11090.s1
Both parents
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11135.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11181.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11206.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11216.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11229.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11242.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11266.s1
Maternal
Simplex (quad)
NA
LINC01903
sanders_11_ASD_discovery_controls-11299.s1
Both parents
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11307.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11318.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11327.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11330.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11353.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11381.s1
Maternal
Simplex (quad)
NA
CDH19
sanders_11_ASD_discovery_controls-11382.s1
Unknown
Simplex (quad)
NA
CCDC102B
sanders_11_ASD_discovery_controls-11396.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11456.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11462.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11542.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11544.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11569.s1
Both parents
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11590.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11622.s1
Maternal
Simplex (quad)
NA
LINC01924
sanders_11_ASD_discovery_controls-11707.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11711.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11753.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11768.s1
Both parents
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11775.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11834.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11863.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11897.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11924.s1
Both parents
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11947.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11998.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12001.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12036.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12197.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12240.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12261.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12271.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12317.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12337.s1
Maternal
Simplex (quad)
NA
LINC01912
sanders_11_ASD_discovery_controls-12383.s1
Both parents
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12403.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12430.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12435.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12552.s1
Both parents
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12561.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12565.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12582.s1
Both parents
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12605.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12637.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12669.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12682.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12704.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12708.s1
Both parents
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12736.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12832.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12894.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12901.s1
Unknown
Simplex (quad)
NA
LINC01924,LINC01538
sanders_11_ASD_discovery_controls-12984.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12989.s1
Both parents
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-13120.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-13153.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-13166.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-13251.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-13303.s1
Both parents
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-13324.s1
Paternal
Simplex (quad)
NA
stamouli_18_ASD/NDD_discovery_controls-family48_Twin_1
Unknown
Simplex
LINC01903
No Animal Model Data Available