Xq23CNV Type: Deletion-Duplication
Largest CNV size: 189946 bp
Statistics Box:
Number of Reports: 18
Number of Reports: 18
Summary Information
Summary statement in development
Additional Locus Information
References
Major Reports
Title
Author, Year
Report Class
CNV Type
Structural variation of chromosomes in autism spectrum disorder.
Duplication
Functional impact of global rare copy number variation in autism spectrum disorders.
Duplication
An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabili...
Duplication
Intragenic rearrangements in X-linked intellectual deficiency: results of a-CGH in a series of 54 patients and identification of TRPC5 and KLHL15 as potential XLID genes
Deletion
Cross-Disorder Analysis of Genic and Regulatory Copy Number Variations in Bipolar Disorder
Duplication
Minor Reports
Title
Author, Year
Report Class
CNV Type
Reduced transcript expression of genes affected by inherited and de novo CNVs in autism.
Duplication
Multiple recurrent de novo CNVs, including duplications of the 7q11.23 Williams syndrome region, are strongly associated with autism.
Deletion-Duplication
Use of array CGH to detect exonic copy number variants throughout the genome in autism families detects a novel deletion in TMLHE.
Deletion
A discovery resource of rare copy number variations in individuals with autism spectrum disorder.
Deletion
Both rare and de novo copy number variants are prevalent in agenesis of the corpus callosum but not in cerebellar hypoplasia or polymicrogyria.
Duplication
Identification of risk genes for autism spectrum disorder through copy number variation analysis in Austrian families.
Duplication
Copy number variation in Han Chinese individuals with autism spectrum disorder.
Deletion
Large-scale discovery of novel genetic causes of developmental disorders.
Deletion
Performance of case-control rare copy number variation annotation in classification of autism.
Deletion-Duplication
Microduplications at the pseudoautosomal SHOX locus in autism spectrum disorders and related neurodevelopmental conditions.
Duplication
Copy number variation analysis of patients with intellectual disability from North-West Spain.
Duplication
Comparative Analyses of Copy-Number Variation in Autism Spectrum Disorder and Schizophrenia Reveal Etiological Overlap and Biological Insights.
Duplication
Cases
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
celestino-soper_11_ASD_discovery_cases
ASD probands from Simons Simplex Collection (SSC) trios. 90 of the probands in this study were also used in the Sanders et al. 2011 CNV report.
99
ASD
87.88% Male
144
1
0
1
egger_14_ASD_discovery_cases
ASD probands from Austria (71 simplex, 2 multiplex) recruited from the catchment area of Styria using three recruitment sites (Institute of Human Genetics, Medical University of Graz, Club Libelle, Center for Autism, Styria, and Children's Hospital, University Hospital Graz).
73
Diagnosis of ASD made using ADOS and ADI-R according to DSM-IV or DSM-V categories
N/A
80.82% Male
550371
0
1
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
601125
5
16
21
fitzgerald_14_ASD/DD/ID_discovery_cases
Children recruited through all 24 regional genetics services of the UK National Health Service and Republic of Ireland as part of the Deciphering Developmental Disorders Study
1133
Cases affected by severe, undiagnosed developmental disorders; most common phenotypes include developmental delay, intellectual disability, specific learning disability, autism, seizures, microcephaly, and dysmorphic features.
Median age, 5.5 years
N/A
378
1
0
1
gazzellone_14_ASD_discovery_cases
ASD-affected individuals referred to the Children Development and Behavior Research Center (CDRBC) at Harbin Medical University, China, between January 2007 and June 2011.
104
Diagnosis of ASD made using Autism Behavior Checklist (ABC) and Childhood Autism Rating Scale (CARS)
Mean age at enrollment, 4.31 1.80 yrs.
87.5% Male
143582
2
0
2
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
714984
0
3
3
krumm_15_ASD_discovery_cases
Probands from the Simons Simplex Collection
2377
Diagnosis of ASD
N/A
N/A
191707
0
2
2
kushima_18_SCZ_discovery_cases
Individuals predominantly recruited from the middle of Honshu Island (Japan)
2458
Cases were diagnosed with schizophrenia (SCZ) according to DSM-5 criteria.
Median age, 44 years
55.0% Male
5121567
0
1
1
kushima_22_SCZ_discovery_cases
Japanese schizophrenia probands evaluated for copy number variation from an initial cohort of 3,111 probands before quality control.
3014
Cases diagnosed with schizophrenia (SCZ) according to DSM-5 criteria.
Median age, 45 yrs.
53.5% Male
5121568
0
1
1
marshall_08_ASD_discovery_cases
Cohort of ASD families (237 simplex, 189 mulitplex) recruited from the Hospital for Sick Children, McMaster Univ., Memorial Univ., and other sites
427
ASD
172513
0
1
1
mignonravix_14_ASD/DD/ID_discovery_cases
Male patients presenting with intellectual disability and a family history suggesting X-linked inheritance or maternal skewed X-chromosome inactivation who were selected from a series of patients from the Centre of Reference for Developmental Abnormalities.
54
Cases presented with intellectual disability.
NA
100% Male
47217
1
0
1
nord_11_ASD_discovery_cases
Youth with ASD (as part of mother-father-child trios)
41
ASD
85.4% Male
480228
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
104194
0
3
3
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
72985
2
0
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
681398
0
3
3
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
40401
0
1
1
sanders_11_ASD_discovery_cases
Autistic probands from the Simons Simplex Collection (SSC). 872 probands in quartet families, 272 probands in trios.
1124
ASD diagnosis: 89.5% autism; 8.5% PDD-NOS, 2% Asperger syndrome. Mean full-scale IQ 85.1 1.5 (mean verbal IQ, 81.9 1.7; mean non-verbal IQ, 88.4 1.4)
Mean, 9.1 yrs.
86.1% Male
189946
28
6
34
tropeano_16_ASD/NDD_replication_cases
Cases with neurodevelopmental disorders (NDD), including ASD, referred for clinical genetic testing in the United Kingdom [n=9650; Brain and Body Genetic Resource Exchange (BBGRE)] and Canada (n=9207; the Hospital for Sick Children, Toronto, Canada)
18857
Cases present with one or more of the following reasons for referral for genetic testing: ASD (n=3541), developmental delay, neurocognitive disability, ADHD, psychoses and other behavioral abnormalities, speech/language delay, learning disability, motor delay, microcephaly, macrocephaly, structural brain abnormality, epilepsy/seizures, abnormal muscle tone, and other neurological problems.
N/A
BBGRE cohort, 67% Male; Hospit
152874
0
1
1
Controls
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
egger_14_ASD_discovery_controls
CNV data from POPGEN (n=1,123) and the Ottawa Heart Institute (n=1,234)
2357
Control
N/A
N/A
0
0
0
0
engchuan_15_ASD_discovery_controls
Platform-matched controls from three large studies: SAGE (Study of Addiction Genetics and Environment), Ontario Colorectal Cancer study, and HABC (Health Aging and Body Composition)
2342
Controls; subjects had no previous psychiatric history
N/A
46.67% Male
342712
7
37
44
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
krumm_15_ASD_discovery_controls
Unaffected siblings from quad families from the Simons Simplex Collection
1786
Control
N/A
N/A
27324
0
2
2
kushima_18_ASD/SCZ_discovery_controls
Individuals selected from the general population and predominantly recruited from the middle of Honshu Island (Japan)
2095
Controls had no history of mental disorders based upon responses to questionnaires or self-reporting.
Median age, 37 years
52.0% Male
0
0
0
0
kushima_22_ASD/BPD/SCZ_discovery_controls
Psychiatrically normal control individuals selected from the general population evaluated for copy number variation from an initial cohort of 2,713 control individuals before quality control.
2671
Controls were psychiatrically normal and had no history of mental disorders based on responses to questionnaires or self-reporting.
Median age, 36 yrs.
47.8% Male
0
0
0
0
marshall_08_ASD_discovery_controls_1
German PopGen project and entries from Database of Genomic Variants
500
Controls
0
0
0
0
marshall_08_ASD_discovery_controls_2
Non-disease controls from Ontario population
1152
Controls
0
0
0
0
nord_11_ASD_discovery_controls
Samples from 367 total control individuals (319 European American, 48 African American) used to test for differences in rare CNV prevalence compared with autism cases
123
Controls (no history of psychiatric symptoms by self-report)
30 yrs.
240670
1
1
2
prasad_12_ASD_discovery_controls
PDx controls [1000 DNA samples from reportedly healthy donors (50.2% male) from BioServe (Beltsville, MD)] and 4139 in-house controls previously reported in Krawcak et al. 2006, Stewart et al. 2009, and Bierut et al. 2010. CNVs identified in controls were used to define rare ASD-specific CNVs.
5139
Control
NA
NA (PDx controls 50.2% male)
72985
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.
104335
30
6
36
Cases
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
celestino-soper_11_ASD_discovery_cases
aCGH
Agilent 1M
ADM-2
Agilent Feature Extraction v10.7.3.1, Agilent DNA Analytics v4.0.76
None
egger_14_ASD_discovery_cases
68 European, 2 Asian, 1 African, 1 Turkish, 1 Egyptian
Array SNP
Affymetrix 6.0
Birdsuite, iPattern, Affymetrix Genotyping Console
None
engchuan_15_ASD_discovery_cases
Caucasian
Solid phase hybridization
Illumina 1M
None
fitzgerald_14_ASD/DD/ID_discovery_cases
UK and Ireland
aCGH, WES
Agilent 2x1M, Agilent Exome+
Cnsolidate, CoNVex
None
gazzellone_14_ASD_discovery_cases
Han Chinese
Array SNP
Affymetrix CytoScan HD
ChAS, iPattern, Nexus, Partek
None
kaminsky_11_DD/ID/ASD_discovery_cases
NA
aCGH
Agilent 44K, Agilent 105K
Feature Extraction, DNA Analytics
FISH, qPCR, MLPA, aCGH, standard G-banded chromosome analysis
krumm_15_ASD_discovery_cases
N/A
WES
CoNIFER, XHMM
Solid phase hybridization (Illumina 1M, 1 M Duo, or Omni 2.5)
kushima_18_SCZ_discovery_cases
Japanese
aCGH
NimbleGen 720K, Agilent 400K
FASST2
Nexus Copy Number v.9.0
N/A
kushima_22_SCZ_discovery_cases
Japan
aCGH
NimbleGen 720K Whole-Genome Tiling, Agilent SurePrint G3 Human CGH 400K
Fast Adaptive States Segmentation Technique 2
BioDiscovery Nexus Copy Number v.9.0
qRT-PCR
marshall_08_ASD_discovery_cases
90% European, 4.5% European-mixed, 4.5% Asian, 0.07% African
Array SNP, karotyping
Affymetrix 500K
dChip, CNAG, GEMCA
qPCR, qmPCR
mignonravix_14_ASD/DD/ID_discovery_cases
France
aCGH
X- chromosome-specific microarray (Roche Nimblegen)
NA
NA
qPCR
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)
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
tropeano_16_ASD/NDD_replication_cases
United Kingdom and Canada
aCGH
Agilent 60K, OGT Cytosure 4x180K
ADM-2
Agilent Feature Extraction, Agilent Genomic Workbench, Agilent Feature Extraction v.10.7.11, OGT Cyt
None
Controls
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
egger_14_ASD_discovery_controls
European
N/A
N/A
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
krumm_15_ASD_discovery_controls
N/A
WES
CoNIFER, XHMM
Solid phase hybridization (Illumina 1M, 1 M Duo, or Omni 2.5)
kushima_18_ASD/SCZ_discovery_controls
Japanese
aCGH
NimbleGen 720K, Agilent 400K
FASST2
Nexus Copy Number v.9.0
N/A
kushima_22_ASD/BPD/SCZ_discovery_controls
Japan
aCGH
NimbleGen 720K Whole-Genome Tiling, Agilent SurePrint G3 Human CGH 400K
Fast Adaptive States Segmentation Technique 2
BioDiscovery Nexus Copy Number v.9.0
qRT-PCR
marshall_08_ASD_discovery_controls_1
European
Array SNP, karotyping
Affymetrix 500K
dChip, CNAG, GEMCA
marshall_08_ASD_discovery_controls_2
European
Array SNP, karotyping
Affymetrix 500K
dChip, CNAG, GEMCA
nord_11_ASD_discovery_controls
aCGH
NimbleGen HD2
Sliding-window algorithm, ~10 kb minumum size threshold
None
prasad_12_ASD_discovery_controls
NA
aCGH
Agilent 1M
ADM-2, DNAcopy (R Bioconductor)
DNA Analytics v4.0.85 (Agilent), DNAcopy
sanders_11_ASD_discovery_controls
Solid phase hybridization
Illumina 1M v1 or Illumina 1M v3
PennCNV, QuantiSNP, GNOSIS
Cases
Patient ID
Author, Year
Age
Gender
Primary Diagnosis
Clinical Profile
Cognitive Profile
CNV Start
CNV End
CNV Size
Genome Build
Type Method
Validation
celestino-soper_11_ASD_discovery_cases-11348
NA
M
ASD
NA
NA
115646033
115646177
145
GRCh38
Deletion
No
egger_14_ASD_discovery_cases-caseA67
16 yrs. (born 1998)
F
ASD
Diagnosis: early infantile autism/high functioning autism. Co-morbidities/additional features: speech present; obesity (BMI 28.7). Family history: none reported. CNV: high stringency genic CNV call (2 or more algorithms), with no overlapping calls in 2,357 POPGEN and OHI controls, and <50% overlap in DGV.
Cognitive impairment (IQ 60-80)
112355650
112906020
550371
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case1366_302
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
116807112
116911305
104194
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case14198_3220
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
114024494
114076886
52393
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case14262_3850
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
116489197
116550166
60970
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case14410_5190
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
116949934
117104808
154875
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case16090_1571122001
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
117364478
117440099
75622
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case20165_1702001
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
116807112
116911447
104336
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case3040_7
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
116807112
116911305
104194
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case3146_4
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
116807112
116908132
101021
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case3159_3
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
117147400
117209299
61900
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case3260_3
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
116807112
116916052
108941
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case4152_1
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
114611120
115212140
601021
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case4251_1
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
116807112
116949934
142823
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case4423_1
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
116807112
116953387
146276
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case5258_3
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
116807112
116911305
104194
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case5427_3
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
116807112
116911305
104194
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case5433_3
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
114973219
115163165
189947
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case6024_7
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
116807112
116916052
108941
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case6026_3
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
116807112
116911305
104194
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case6130_4
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
112470945
112508487
37543
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case8502_201
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
116792384
116911305
118922
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case8556_201
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
116807112
116911447
104336
GRCh38
Duplication
No
fitzgerald_14_ASD/DD/ID_discovery_cases-DECIPHER259211
N/A
M
Developmental delay
Microcephaly; Delayed speech and language development; Global developmental delay; Intrauterine growth retardation; Abnormality of the palmar creases; Astigmatism; Amblyopia; Abnormality of the skeletal system; Constipation; Cleft soft palate
111013674
111014052
379
GRCh38
Deletion
No
gazzellone_14_ASD_discovery_cases-case538-3
N/A
M
ASD
ASD; no other clinical information provided
N/A
110072578
110097336
24759
GRCh38
Deletion
No
gazzellone_14_ASD_discovery_cases-case677-3
N/A
M
ASD
ASD; no other clinical information provided
N/A
116728498
116872080
143583
GRCh38
Deletion
No
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002558
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
114991761
115149960
158200
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00003885
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
113074081
113682980
608900
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004911
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
116637326
117352315
714990
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_cases-case13075.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Trio
112631419
112823126
191708
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_cases-case13580.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
115007931
115156667
148737
GRCh38
Duplication
Yes
kushima_18_SCZ_discovery_cases-caseSCZ1350
62 yrs.
M
Schizophrenia
Behavioral/psychiatric evaluation: onset of schizophrenia at 21 years of age (core symptoms include persecutory delusions, auditory hallucinations). Brain imaging: frontal atrophy and lateral ventricular enlargement on brain CT. Physical comorbidities: pulmonary abscess and sepsis. Family history: negative.
Possible intellectual disability (IQ < 70)
110074915
115196481
5121567
GRCh38
Duplication
N/A
kushima_22_SCZ_discovery_cases-caseSCZ1350
NA
NA
Schizophrenia
Diagnosis of schizophrenia according to DSM-5 criteria.
110074914
115196481
5121568
GRCh38
Duplication
Yes
marshall_08_ASD_discovery_cases-SK0088-003
NA
M
ASD
NA
NA
114985379
115157892
172514
GRCh38
Duplication
Yes
mignonravix_14_ASD/DD/ID_discovery_cases-case3
3 yrs.
M
ASD, developmental delay, and intellectual disability
Birth/neonatal history: macrocephaly diagnosed during the third trimester of pregnancy; uneventful delivery at 38 week gestation; birth weight 3550 g (75th %ile), length 50.5 cm (75th %ile), head circumference 35.5 cm (75th %ile). Developmental milestones: developmental delay with delayed ability to walk (2 years) and speech delay. Behavioral/psychiatric evaluation: frequent outbursts, self-injurious behavior, autistic behavior noted with respect to stereotypies and frequent withdrawal. Dysmorphic features: none. Family history: first child of a healthy 19-year-old mother; no information about his father; family history notable for a maternal grand-uncle with intellectual disability.
Intellectual disability
111938988
111986204
47217
GRCh38
Deletion
Yes
nord_11_ASD_discovery_cases-267-1
ASD
115827403
116307630
480228
Unknown
Duplication
No
pinto_10_ASD_discovery_cases-case1366_302
NA
M
ASD
NA
NA
116807112
116911305
104194
GRCh38
Duplication
Yes
pinto_10_ASD_discovery_cases-case5258_3
NA
M
Autism
Language delay, hx of torJcollis and hydrocele, no epilepsy, brain CT normal
Average IQ
116807112
116911305
104194
GRCh38
Duplication
Yes
pinto_10_ASD_discovery_cases-case5427_3
NA
M
ASD
NA
NA
116807112
116911305
104194
GRCh38
Duplication
Yes
prasad_12_ASD_discovery_cases-case64377L
NA
F
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
112715206
112740174
24969
Unknown
Deletion
No
prasad_12_ASD_discovery_cases-case93033
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
116400100
116473084
72985
Unknown
Deletion
No
quintela_17_DD/ID_discovery_cases-caseID_157
5 yrs.
F
Intellectual disability
Psychomotor delay, language delay, visuospatial deficits
Intellectual disability
112383575
112844176
460602
GRCh38
Duplication
No
quintela_17_DD/ID_discovery_cases-caseID_470
6 yrs.
F
Intellectual disability
Additional clinical information N/A
Intellectual disability
113015717
113697055
681339
GRCh38
Duplication
No
quintela_17_DD/ID_discovery_cases-caseID_594
10 yrs.
M
Intellectual disability
Dysmorphic facial features, septo-optic dysplasia
Intellectual disability
113015717
113684336
668620
GRCh38
Duplication
No
sajan_13_ACC/CBLH/PMG_discovery_cases-case1599-0
N/A
N/A
ACC-CBLH
Diagnosis of agenesis of the corpus callosum (ACC) and cerebellar hypoplasia (CBLH). ASD: no. Seizures: no.
Developmental delay: yes. Intellectual disability: unknown.
115950495
115990895
40401
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11054.p1
13
M
Autism
NA
Full-scale IQ, 82; non-verbal IQ, 83; verbal IQ, 84
112459675
112499457
39783
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11110.p1
15.8
M
Autism
NA
Full-scale IQ, 43; non-verbal IQ, 62; verbal IQ, 32
115690491
115690894
404
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11257.p1
5.5
M
Autism
NA
Full-scale IQ, 129; non-verbal IQ, 128; verbal IQ, 118
114105209
114107938
2730
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11267.p1
13.2
F
Autism
NA
Full-scale IQ, 85; non-verbal IQ, 91; verbal IQ, 79
114411562
114436386
24825
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11323.p1
8.6
F
Autism
NA
Full-scale IQ, 109; non-verbal IQ, 114; verbal IQ, 98
114973219
115163165
189947
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11331.p1
5.5
M
Autism
NA
Full-scale IQ, 89; non-verbal IQ, 97; verbal IQ 81
112461623
112508487
46865
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11350.p1
9.1
M
Autism
NA
Full-scale IQ, 80; non-verbal IQ, 92; verbal IQ, 93
115690491
115690894
404
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11352.p1
5.3
M
Autism
NA
Full-scale IQ, 54; non-verbal IQ, 59; verbal IQ, 60
116923569
116978201
54633
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11395.p1
6.4
M
Autism
NA
Full-scale IQ, 113; non-verbal IQ, 127; verbal IQ, 87
116807112
116911305
104194
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11397.p1
11.2
M
Autism
NA
Full-scale IQ, 129; non-verbal IQ, 128; verbal IQ, 120
112470945
112499457
28513
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11458.p1
16.4
M
Autism
NA
Full-scale IQ, 117; non-verbal IQ, 106; verbal IQ, 126
112379276
112441499
62224
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11475.p1
7.8
M
Autism
NA
Full-scale IQ, 94; non-verbal IQ, 86; verbal IQ, 110
112587562
112604268
16707
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
112414387
112552109
137723
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
112470945
112499457
28513
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11567.p1
9.4
F
Autism
NA
Full-scale IQ, 48; non-verbal IQ, 55; verbal IQ, 34
111861668
111867928
6261
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11578.p1
5.1
M
ASD
NA
Full-scale IQ, 120; non-verbal IQ, 120; verbal IQ, 115
112470945
112508487
37543
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11599.p1
6.6
M
Autism
NA
Full-scale IQ, 105; non-verbal IQ, 106; verbal IQ, 99
112461623
112499457
37835
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11629.p1
17.6
M
Autism
NA
Full-scale IQ, 50; non-verbal IQ, 67; verbal IQ, 33
112470945
112508487
37543
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11808.p1
8.8
F
Autism
NA
Full-scale IQ, 84; non-verbal IQ, 81; verbal IQ, 95
114107648
114110374
2727
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11808.p1
8.8
F
Autism
NA
Full-scale IQ, 84; non-verbal IQ, 81; verbal IQ, 95
112042865
112046254
3390
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11964.p1
12.4
F
Autism
NA
Full-scale IQ, 40; non-verbal IQ, 40; verbal IQ, 39
111921528
111935514
13987
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11964.p1
12.4
F
Autism
NA
Full-scale IQ, 40; non-verbal IQ, 40; verbal IQ, 39
112470945
112499457
28513
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12061.p1
7
F
Autism
NA
Full-scale IQ, 92; non-verbal IQ, 89; verbal IQ, 101
113598920
113738615
139696
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12091.p1
4.4
F
Autism
NA
Full-scale IQ, 97; non-verbal IQ, 100; verbal IQ, 94
112470945
112499457
28513
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12150.p1
8.7
M
Autism
NA
Full-scale IQ, 109; non-verbal IQ, 95; verbal IQ, 133
115053894
115142038
88145
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12161.p1
6.3
F
Autism
NA
Full-scale IQ, 106; non-verbal IQ, 95; verbal IQ, 122
112470945
112499457
28513
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12161.p1
6.3
F
Autism
NA
Full-scale IQ, 106; non-verbal IQ, 95; verbal IQ, 122
117487266
117494083
6818
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12460.p1
9.4
M
Autism
NA
Full-scale IQ, 68; non-verbal IQ, 73; verbal IQ, 63
117133633
117171677
38045
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12492.p1
15.4
M
Autism
NA
Full-scale IQ, 26; non-verbal IQ, 30; verbal IQ, 19
112470945
112499457
28513
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12540.p1
6.9
F
Autism
NA
Full-scale IQ, 104; non-verbal IQ, 104; verbal IQ, 105
112041867
112046254
4388
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12622.p1
15.1
M
Autism
NA
Full-scale IQ, 85; non-verbal IQ, 97; verbal IQ, 70
114103804
114113917
10114
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12717.p1
11.1
M
Autism
NA
Full-scale IQ, 89; non-verbal IQ, 94; verbal IQ, 86
114107648
114113917
6270
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-13153.p1
9.3
M
Autism
NA
Full-scale IQ, 75; non-verbal IQ, 86; verbal IQ, 59
112470945
112499457
28513
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-13296.p1
5.9
M
Autism
NA
Full-scale IQ, 30; non-verbal IQ, 44; verbal IQ, 15
116793839
116890968
97130
GRCh38
Deletion
No
tropeano_16_ASD/NDD_replication_cases-case5
4-10 years
M
ASD
Autism, acute language regression
116170769
116323761
152993
GRCh38
Duplication
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-control110036019867_
N/A
N/A
Control
No previous psychiatric history
116807112
116916052
108941
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-control110036022143_
N/A
N/A
Control
No previous psychiatric history
114024494
114076886
52393
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-control110036023422_
N/A
N/A
Control
No previous psychiatric history
116807112
116911305
104194
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlB198132_1007872242
N/A
N/A
Control
No previous psychiatric history
116193976
116536761
342786
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlB239915_1007841983
N/A
N/A
Control
No previous psychiatric history
116807112
116911305
104194
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlB246256_1007853712
N/A
N/A
Control
No previous psychiatric history
116807112
116911305
104194
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlB253888_1007853986
N/A
N/A
Control
No previous psychiatric history
116800194
116911305
111112
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlB259917_1007874661
N/A
N/A
Control
No previous psychiatric history
116807112
116916052
108941
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlB285779_1007874679
N/A
N/A
Control
No previous psychiatric history
114973219
115164801
191583
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlB293253_1007842044
N/A
N/A
Control
No previous psychiatric history
113344931
113643710
298780
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlB295382_1007853936
N/A
N/A
Control
No previous psychiatric history
116807112
116911305
104194
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlB373298_1007854346
N/A
N/A
Control
No previous psychiatric history
114973219
115171000
197782
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlB466161_1007840573
N/A
N/A
Control
No previous psychiatric history
114973219
115163165
189947
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlB529429_1007872251
N/A
N/A
Control
No previous psychiatric history
116807112
116911305
104194
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlB531181_1007853595
N/A
N/A
Control
No previous psychiatric history
116800194
116916052
115859
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlB655824_1007872623
N/A
N/A
Control
No previous psychiatric history
117194516
117260681
66166
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlB686396_1007853864
N/A
N/A
Control
No previous psychiatric history
116807112
116911305
104194
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlB763762_1007874874
N/A
N/A
Control
No previous psychiatric history
117104808
117194516
89709
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlB779111_1007874846
N/A
N/A
Control
No previous psychiatric history
116807112
116916052
108941
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlB801854_1007853969
N/A
N/A
Control
No previous psychiatric history
116978201
117097334
119134
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlB809324_1007874625
N/A
N/A
Control
No previous psychiatric history
114264367
114401431
137065
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlB832059_1007874686
N/A
N/A
Control
No previous psychiatric history
113590952
113738615
147664
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlB834420_1007871651
N/A
N/A
Control
No previous psychiatric history
116800194
116908132
107939
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlB895793_1007844868
N/A
N/A
Control
No previous psychiatric history
116800194
116911305
111112
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlB913963_1007845346
N/A
N/A
Control
No previous psychiatric history
114965301
115163165
197865
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlB926040_1007875245
N/A
N/A
Control
No previous psychiatric history
116800194
116916052
115859
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlB940548_1007844796
N/A
N/A
Control
No previous psychiatric history
116807112
116916052
108941
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlB973991_1007842439
N/A
N/A
Control
No previous psychiatric history
116800194
116916052
115859
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlB996895_1007855015
N/A
N/A
Control
No previous psychiatric history
112421779
112552109
130331
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlHABC_900149_900149
N/A
N/A
Control
No previous psychiatric history
116807112
116916052
108941
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlHABC_900164_900164
N/A
N/A
Control
No previous psychiatric history
116807112
116911447
104336
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlHABC_900226_900226
N/A
N/A
Control
No previous psychiatric history
116807112
116911447
104336
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlHABC_900259_900259
N/A
N/A
Control
No previous psychiatric history
114973219
115163165
189947
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlHABC_900296_900296
N/A
N/A
Control
No previous psychiatric history
116807112
116911447
104336
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlHABC_900545_900545
N/A
N/A
Control
No previous psychiatric history
117364478
117440099
75622
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlHABC_900570_900570
N/A
N/A
Control
No previous psychiatric history
116750400
117007832
257433
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlHABC_900887_900887
N/A
N/A
Control
No previous psychiatric history
114971055
115163165
192111
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlHABC_901067_901067
N/A
N/A
Control
No previous psychiatric history
116807112
116911447
104336
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlHABC_901197_901197
N/A
N/A
Control
No previous psychiatric history
116792384
116911447
119064
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlHABC_901202_901202
N/A
N/A
Control
No previous psychiatric history
116821556
116911447
89892
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlHABC_901203_901203
N/A
N/A
Control
No previous psychiatric history
116807112
116911447
104336
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlHABC_902539_902539
N/A
N/A
Control
No previous psychiatric history
116807112
116911447
104336
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlHABC_902639_902639
N/A
N/A
Control
No previous psychiatric history
116807112
116911447
104336
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlHABC_902895_902895
N/A
N/A
Control
No previous psychiatric history
114266108
114566801
300694
GRCh38
Duplication
No
krumm_15_ASD_discovery_controls-control12370.s1
N/A
Female
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
115622245
115649561
27317
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_controls-control12522.s1
N/A
Male
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
112778566
112805092
26527
GRCh38
Duplication
Yes
nord_11_ASD_discovery_controls-04C27328
Control
112645872
112820350
174479
Unknown
Duplication
nord_11_ASD_discovery_controls-04C27708
Control
115887707
116128376
240670
Unknown
Deletion
sanders_11_ASD_discovery_controls-11184.s1
8.1
F
Control (matched sibling)
NA
NA
112470945
112508487
37543
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11187.s1
11.1
F
Control (matched sibling)
NA
NA
117147400
117209299
61900
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11224.s1
7.1
F
Control (matched sibling)
NA
NA
116949934
116964279
14346
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11257.s1
4.1
M
Control (matched sibling)
NA
NA
114105209
114107938
2730
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11350.s1
6.1
M
Control (matched sibling)
NA
NA
115690491
115690894
404
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11352.s1
7.5
F
Control (matched sibling)
NA
NA
116923569
116981803
58235
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11355.s1
5.4
F
Control (matched sibling)
NA
NA
112470945
112499457
28513
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11397.s1
8.3
F
Control (matched sibling)
NA
NA
112470945
112499457
28513
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11458.s1
14.5
M
Control (matched sibling)
NA
NA
112379276
112441499
62224
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11469.s1
19.1
F
Control (matched sibling)
NA
NA
112470945
112499457
28513
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11542.s1
14.6
F
Control (matched sibling)
NA
NA
112470945
112499457
28513
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11578.s1
10.8
M
Control (matched sibling)
NA
NA
112461623
112508487
46865
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11794.s1
4.3
F
Control (matched sibling)
NA
NA
112056821
112075433
18613
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11808.s1
12.2
F
Control (matched sibling)
NA
NA
112041867
112046254
4388
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11941.s1
8.7
F
Control (matched sibling)
NA
NA
112064136
112075433
11298
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11964.s1
6.7
F
Control (matched sibling)
NA
NA
112470945
112499457
28513
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11984.s1
7.7
F
Control (matched sibling)
NA
NA
117364478
117440099
75622
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12083.s1
5.5
F
Control (matched sibling)
NA
NA
116949934
116964279
14346
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-12101.s1
5.1
M
Control (matched sibling)
NA
NA
112319406
112321711
2306
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12117.s1
12
F
Control (matched sibling)
NA
NA
115080256
115116011
35756
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12150.s1
10.3
F
Control (matched sibling)
NA
NA
115044375
115139354
94980
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-12161.s1
7.7
F
Control (matched sibling)
NA
NA
112470945
112499457
28513
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12161.s1
7.7
F
Control (matched sibling)
NA
NA
117487266
117494083
6818
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12197.s1
5.8
F
Control (matched sibling)
NA
NA
117147400
117215680
68281
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12366.s1
7.8
F
Control (matched sibling)
NA
NA
112041867
112046254
4388
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12370.s1
6.3
F
Control (matched sibling)
NA
NA
114760778
114864565
103787
NCBI36
Duplication
No
sanders_11_ASD_discovery_controls-12420.s1
4.7
F
Control (matched sibling)
NA
NA
116807112
116911447
104336
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-12460.s1
7
M
Control (matched sibling)
NA
NA
117133633
117157834
24202
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12492.s1
13.1
M
Control (matched sibling)
NA
NA
112470945
112508487
37543
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12540.s1
4.5
F
Control (matched sibling)
NA
NA
112041867
112046254
4388
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12657.s1
10.8
F
Control (matched sibling)
NA
NA
115316869
115320201
3333
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12758.s1
9.6
F
Control (matched sibling)
NA
NA
117487266
117494083
6818
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12788.s1
11.1
F
Control (matched sibling)
NA
NA
116807112
116911447
104336
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-12817.s1
15.7
F
Control (matched sibling)
NA
NA
117364478
117440099
75622
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12888.s1
10.5
F
Control (matched sibling)
NA
NA
117735898
117755228
19331
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-13076.s1
19.5
F
Control (matched sibling)
NA
NA
112064136
112075433
11298
GRCh38
Deletion
No
Cases
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
celestino-soper_11_ASD_discovery_cases-11348
Unknown
Simplex
NA
PLS3
egger_14_ASD_discovery_cases-caseA67
Unknown
Unknown
RTL4,HMGB3P30,MIR4329,RN7SL266P,LHFPL1,AMOT
engchuan_15_ASD_discovery_cases-case1366_302
Unknown
RNU6-1323P
engchuan_15_ASD_discovery_cases-case14198_3220
Unknown
XACT
engchuan_15_ASD_discovery_cases-case14262_3850
Unknown
engchuan_15_ASD_discovery_cases-case14410_5190
Unknown
SETP8
engchuan_15_ASD_discovery_cases-case16090_1571122001
Unknown
engchuan_15_ASD_discovery_cases-case20165_1702001
Unknown
RNU6-1323P
engchuan_15_ASD_discovery_cases-case3040_7
Unknown
RNU6-1323P
engchuan_15_ASD_discovery_cases-case3146_4
Unknown
RNU6-1323P
engchuan_15_ASD_discovery_cases-case3159_3
Unknown
engchuan_15_ASD_discovery_cases-case3260_3
Unknown
RNU6-1323P
engchuan_15_ASD_discovery_cases-case4152_1
Unknown
SNORA35,MIR764,MIR1912,MIR1264,MIR1298,MIR1911,HSPA8P7,MIR448,RNU6-648P,YAP1P2,SNORA35B,RBMXL3,RPL36P18,IL13RA2,HTR2C,LRCH2
engchuan_15_ASD_discovery_cases-case4251_1
Unknown
RNU6-1323P
engchuan_15_ASD_discovery_cases-case4423_1
Unknown
RNU6-1323P
engchuan_15_ASD_discovery_cases-case5258_3
Unknown
RNU6-1323P
engchuan_15_ASD_discovery_cases-case5427_3
Unknown
RNU6-1323P
engchuan_15_ASD_discovery_cases-case5433_3
Unknown
RNU6-648P,YAP1P2,SNORA35B,IL13RA2,LRCH2
engchuan_15_ASD_discovery_cases-case6024_7
Unknown
RNU6-1323P
engchuan_15_ASD_discovery_cases-case6026_3
Unknown
RNU6-1323P
engchuan_15_ASD_discovery_cases-case6130_4
Unknown
engchuan_15_ASD_discovery_cases-case8502_201
Unknown
RNU6-1323P
engchuan_15_ASD_discovery_cases-case8556_201
Unknown
RNU6-1323P
fitzgerald_14_ASD/DD/ID_discovery_cases-DECIPHER259211
Maternal
Simplex
Unknown
PAK3
gazzellone_14_ASD_discovery_cases-case538-3
Unknown
Unknown
Unknown
MIR3978,TMEM164
gazzellone_14_ASD_discovery_cases-case677-3
Unknown
Unknown
Unknown
RNU6-1323P
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002558
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Maternal
Unknown
Unknown
RNU6-648P,YAP1P2,SNORA35B,IL13RA2,LRCH2
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00003885
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
XACT
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004911
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
RNU6-1323P,SETP8
krumm_15_ASD_discovery_cases-case13075.p1
Omni2.5-4v1
Maternal
Simplex
Segregated
HMGB3P30,MIR4329,LHFPL1,AMOT
krumm_15_ASD_discovery_cases-case13580.p1
1M-Duov3
Maternal
Simplex
Segregated
RNU6-648P,YAP1P2,SNORA35B,IL13RA2,LRCH2
kushima_18_SCZ_discovery_cases-caseSCZ1350
While a subset of CNVs were reported to have been validated by qPCR in the report, precisely which CNVs were validated was not reported
Unknown
Simplex
Unknown
MIR3978,SNORD96B,AMMECR1-IT1,GNG5P2,TDGF1P3,FCF1P4,RNU6-496P,HMGB1P12,SERTM2,EIF4BP7,RPL18AP15,RNA5SP512,ALG13-AS1,DPRXP7,RTL4,HMGB3P30,MIR4329,RN7SL266P,RNU6-1015P,QTRT1P1,RNU1-57P,RN7SL93P,SSU72P1,SNORA35,MIR764,MIR1912,MIR1264,MIR1298,MIR1911,HSPA8P7,MIR448,RNU6-648P,YAP1P2,SNORA35B,RBMXL3,GLUD1P9,CAPN6,TRPC5OS,LHFPL1,AMOT,RPL36AP53,IL13RA2,AMMECR1,RTL9,CHRDL1,DCX,ALG13,TRPC5,XACT,HTR2C,LRCH2,TMEM164,PAK3
kushima_22_SCZ_discovery_cases-caseSCZ1350
qRT-PCR
Unknown
CAPN6,DCX,LRCH2,RTL9,ALG13,TMEM164,CHRDL1,RBMXL3,AMOT,HMGB3P30,HTR2C,IL13RA2,SSU72P1,LHFPL1,RTL4,GNG5P2,RPL18AP15,PPIHP2,SERTM2,DPRXP7,MIR448,EIF4BP7,CCDC121P1,SNORD96B,SNORA35,TNPO3P1,HMGB1P12,PAK3,GLUD1P9,M6PRP1,RPL36AP53,MIR1911,MIR764,TRPC5OS,MIR1264,MIR1912,MIR1298,YAP1P2,HSPA8P7,QTRT1P1,MIR4329,MIR3978,RNA5SP512,AMMECR1-IT1,ALG13-AS1,XACT,TRPC5,TDGF1P3,RNU6-648P,RNU1-57P,RN7SL266P,FCF1P4,RN7SL93P,RNU6-496P,RNU6-1015P,SNORA35B,SNORD30,AMMECR1
marshall_08_ASD_discovery_cases-SK0088-003
qPCR, qmPCR
Unknown
NA
NA
RNU6-648P,YAP1P2,SNORA35B,IL13RA2,LRCH2
mignonravix_14_ASD/DD/ID_discovery_cases-case3
qPCR
Maternal
TRPC5
nord_11_ASD_discovery_cases-267-1
Maternal
0 genes
pinto_10_ASD_discovery_cases-case1366_302
Illumina550
maternal
NA
NA
RNU6-1323P
pinto_10_ASD_discovery_cases-case5258_3
Agilent1M
maternal
Simplex
NA
RNU6-1323P
pinto_10_ASD_discovery_cases-case5427_3
Agilent1M
maternal
NA
NA
RNU6-1323P
prasad_12_ASD_discovery_cases-case64377L
Unknown
Unknown
Unknown
0 genes
prasad_12_ASD_discovery_cases-case93033
Unknown
Unknown
Unknown
0 genes
quintela_17_DD/ID_discovery_cases-caseID_157
Unknown
Unknown
RTL4,HMGB3P30,MIR4329,LHFPL1,AMOT
quintela_17_DD/ID_discovery_cases-caseID_470
Unknown
Unknown
XACT
quintela_17_DD/ID_discovery_cases-caseID_594
Unknown
Unknown
XACT
sajan_13_ACC/CBLH/PMG_discovery_cases-case1599-0
qPCR (CNV not detected)
Bi-parental
Unknown
Unknown
DANT2
sanders_11_ASD_discovery_cases-11054.p1
Maternal
Simplex (quad-proband matched)
Segregated
sanders_11_ASD_discovery_cases-11110.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11257.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11267.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11323.p1
Maternal
Simplex (quad-proband matched)
Segregated
RNU6-648P,YAP1P2,SNORA35B,IL13RA2,LRCH2
sanders_11_ASD_discovery_cases-11331.p1
Maternal
Simplex (trio)
NA
sanders_11_ASD_discovery_cases-11350.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11352.p1
Maternal
Simplex (quad-proband matched)
Not segregated
SETP8
sanders_11_ASD_discovery_cases-11395.p1
Unknown
Simplex (quad-proband matched)
Segregated
RNU6-1323P
sanders_11_ASD_discovery_cases-11397.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11458.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11475.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11522.p1
Unknown
Simplex (quad-proband matched)
Not segregated
RTL4
sanders_11_ASD_discovery_cases-11542.p1
Both parents
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11567.p1
Paternal
Simplex (quad-proband matched)
Segregated
TRPC5
sanders_11_ASD_discovery_cases-11578.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11599.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11629.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11808.p1
Both parents
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11808.p1
Paternal
Simplex (quad-proband matched)
Not segregated
TRPC5
sanders_11_ASD_discovery_cases-11964.p1
Paternal
Simplex (quad-proband matched)
Not segregated
TRPC5
sanders_11_ASD_discovery_cases-11964.p1
Both parents
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12061.p1
Paternal
Simplex (quad-proband matched)
Not segregated
XACT
sanders_11_ASD_discovery_cases-12091.p1
Both parents
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12150.p1
Unknown
Simplex (quad-proband matched)
Not segregated
YAP1P2,SNORA35B,LRCH2
sanders_11_ASD_discovery_cases-12161.p1
Both parents
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12161.p1
Both parents
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12460.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12492.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12540.p1
Paternal
Simplex (quad-proband matched)
Not segregated
TRPC5
sanders_11_ASD_discovery_cases-12622.p1
Unknown
Simplex (quad-proband unmatched)
Unknown
sanders_11_ASD_discovery_cases-12717.p1
Maternal
Simplex (trio)
NA
sanders_11_ASD_discovery_cases-13153.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-13296.p1
Maternal
Simplex (quad-proband matched)
Not segregated
RNU6-1323P
tropeano_16_ASD/NDD_replication_cases-case5
Maternal
Unknown
Unknown
AGTR2
Controls
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
engchuan_15_ASD_discovery_controls-control110036019867_
Unknown
RNU6-1323P
engchuan_15_ASD_discovery_controls-control110036022143_
Unknown
XACT
engchuan_15_ASD_discovery_controls-control110036023422_
Unknown
RNU6-1323P
engchuan_15_ASD_discovery_controls-controlB198132_1007872242
Unknown
RNU6-154P,CT83,SLC6A14
engchuan_15_ASD_discovery_controls-controlB239915_1007841983
Unknown
RNU6-1323P
engchuan_15_ASD_discovery_controls-controlB246256_1007853712
Unknown
RNU6-1323P
engchuan_15_ASD_discovery_controls-controlB253888_1007853986
Unknown
RNU6-1323P
engchuan_15_ASD_discovery_controls-controlB259917_1007874661
Unknown
RNU6-1323P
engchuan_15_ASD_discovery_controls-controlB285779_1007874679
Unknown
RNU6-648P,YAP1P2,SNORA35B,IL13RA2,LRCH2
engchuan_15_ASD_discovery_controls-controlB293253_1007842044
Unknown
XACT
engchuan_15_ASD_discovery_controls-controlB295382_1007853936
Unknown
RNU6-1323P
engchuan_15_ASD_discovery_controls-controlB373298_1007854346
Unknown
RNU6-648P,YAP1P2,SNORA35B,IL13RA2,LRCH2
engchuan_15_ASD_discovery_controls-controlB466161_1007840573
Unknown
RNU6-648P,YAP1P2,SNORA35B,IL13RA2,LRCH2
engchuan_15_ASD_discovery_controls-controlB529429_1007872251
Unknown
RNU6-1323P
engchuan_15_ASD_discovery_controls-controlB531181_1007853595
Unknown
RNU6-1323P
engchuan_15_ASD_discovery_controls-controlB655824_1007872623
Unknown
engchuan_15_ASD_discovery_controls-controlB686396_1007853864
Unknown
RNU6-1323P
engchuan_15_ASD_discovery_controls-controlB763762_1007874874
Unknown
engchuan_15_ASD_discovery_controls-controlB779111_1007874846
Unknown
RNU6-1323P
engchuan_15_ASD_discovery_controls-controlB801854_1007853969
Unknown
engchuan_15_ASD_discovery_controls-controlB809324_1007874625
Unknown
SSU72P1
engchuan_15_ASD_discovery_controls-controlB832059_1007874686
Unknown
XACT
engchuan_15_ASD_discovery_controls-controlB834420_1007871651
Unknown
RNU6-1323P
engchuan_15_ASD_discovery_controls-controlB895793_1007844868
Unknown
RNU6-1323P
engchuan_15_ASD_discovery_controls-controlB913963_1007845346
Unknown
RNU6-648P,YAP1P2,SNORA35B,IL13RA2,LRCH2
engchuan_15_ASD_discovery_controls-controlB926040_1007875245
Unknown
RNU6-1323P
engchuan_15_ASD_discovery_controls-controlB940548_1007844796
Unknown
RNU6-1323P
engchuan_15_ASD_discovery_controls-controlB973991_1007842439
Unknown
RNU6-1323P
engchuan_15_ASD_discovery_controls-controlB996895_1007855015
Unknown
RTL4
engchuan_15_ASD_discovery_controls-controlHABC_900149_900149
Unknown
RNU6-1323P
engchuan_15_ASD_discovery_controls-controlHABC_900164_900164
Unknown
RNU6-1323P
engchuan_15_ASD_discovery_controls-controlHABC_900226_900226
Unknown
RNU6-1323P
engchuan_15_ASD_discovery_controls-controlHABC_900259_900259
Unknown
RNU6-648P,YAP1P2,SNORA35B,IL13RA2,LRCH2
engchuan_15_ASD_discovery_controls-controlHABC_900296_900296
Unknown
RNU6-1323P
engchuan_15_ASD_discovery_controls-controlHABC_900545_900545
Unknown
engchuan_15_ASD_discovery_controls-controlHABC_900570_900570
Unknown
RNU6-1323P,SETP8
engchuan_15_ASD_discovery_controls-controlHABC_900887_900887
Unknown
RNU6-648P,YAP1P2,SNORA35B,IL13RA2,LRCH2
engchuan_15_ASD_discovery_controls-controlHABC_901067_901067
Unknown
RNU6-1323P
engchuan_15_ASD_discovery_controls-controlHABC_901197_901197
Unknown
RNU6-1323P
engchuan_15_ASD_discovery_controls-controlHABC_901202_901202
Unknown
RNU6-1323P
engchuan_15_ASD_discovery_controls-controlHABC_901203_901203
Unknown
RNU6-1323P
engchuan_15_ASD_discovery_controls-controlHABC_902539_902539
Unknown
RNU6-1323P
engchuan_15_ASD_discovery_controls-controlHABC_902639_902639
Unknown
RNU6-1323P
engchuan_15_ASD_discovery_controls-controlHABC_902895_902895
Unknown
SSU72P1
krumm_15_ASD_discovery_controls-control12370.s1
Illumina 1MDuo
Paternal
PLS3
krumm_15_ASD_discovery_controls-control12522.s1
Omni2.5-4v1
Maternal
MIR4329,AMOT
nord_11_ASD_discovery_controls-04C27328
0 genes
nord_11_ASD_discovery_controls-04C27708
0 genes
sanders_11_ASD_discovery_controls-11184.s1
Both parents
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11187.s1
Both parents
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11224.s1
Paternal
Simplex (quad)
NA
SETP8
sanders_11_ASD_discovery_controls-11257.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11350.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11352.s1
Both parents
Simplex (quad)
NA
SETP8
sanders_11_ASD_discovery_controls-11355.s1
Both parents
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11397.s1
Both parents
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11458.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11469.s1
Both parents
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11542.s1
Both parents
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11578.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11794.s1
Both parents
Simplex (quad)
NA
TRPC5
sanders_11_ASD_discovery_controls-11808.s1
Paternal
Simplex (quad)
NA
TRPC5
sanders_11_ASD_discovery_controls-11941.s1
Paternal
Simplex (quad)
NA
TRPC5
sanders_11_ASD_discovery_controls-11964.s1
Both parents
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11984.s1
Both parents
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12083.s1
Paternal
Simplex (quad)
NA
SETP8
sanders_11_ASD_discovery_controls-12101.s1
Unknown
Simplex (quad)
NA
DPRXP7
sanders_11_ASD_discovery_controls-12117.s1
Unknown
Simplex (quad)
NA
LRCH2
sanders_11_ASD_discovery_controls-12150.s1
Maternal
Simplex (quad)
NA
YAP1P2,SNORA35B,LRCH2
sanders_11_ASD_discovery_controls-12161.s1
Both parents
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12161.s1
Both parents
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12197.s1
Both parents
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12366.s1
Paternal
Simplex (quad)
NA
TRPC5
sanders_11_ASD_discovery_controls-12370.s1
Paternal
Simplex (quad)
NA
PLS3
sanders_11_ASD_discovery_controls-12420.s1
Maternal
Simplex (quad)
NA
RNU6-1323P
sanders_11_ASD_discovery_controls-12460.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12492.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12540.s1
Paternal
Simplex (quad)
NA
TRPC5
sanders_11_ASD_discovery_controls-12657.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12758.s1
Both parents
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12788.s1
Unknown
Simplex (quad)
NA
RNU6-1323P
sanders_11_ASD_discovery_controls-12817.s1
Both parents
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12888.s1
Both parents
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-13076.s1
Paternal
Simplex (quad)
NA
TRPC5
No Animal Model Data Available