8q11.23CNV Type: Deletion-Duplication
Largest CNV size: 724431 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
Structural variation of chromosomes in autism spectrum disorder.
Duplication
Novel submicroscopic chromosomal abnormalities detected in autism spectrum disorder.
Duplication
Functional impact of global rare copy number variation in autism spectrum disorders.
Deletion
Epileptic encephalopathies of the Landau-Kleffner and continuous spike and waves during slow-wave sleep types: genomic dissection makes the link wi...
Duplication
High rate of disease-related copy number variations in childhood onset schizophrenia.
Duplication
Minor Reports
Title
Author, Year
Report Class
CNV Type
Rare structural variation of synapse and neurotransmission genes in autism.
Duplication
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
Craniofacial dysmorphism and developmental disorders among children with chromosomal microdeletions and duplications of unknown significance.
Duplication
Novel candidate genes and regions for childhood apraxia of speech identified by array comparative genomic hybridization.
Duplication
A discovery resource of rare copy number variations in individuals with autism spectrum disorder.
Deletion-Duplication
Refinement and discovery of new hotspots of copy-number variation associated with autism spectrum disorder.
Duplication
Prospective diagnostic analysis of copy number variants using SNP microarrays in individuals with autism spectrum disorders.
Duplication
Identification of candidate intergenic risk loci in autism spectrum disorder.
Duplication
Identification of small exonic CNV from whole-exome sequence data and application to autism spectrum disorder.
Duplication
Copy number variation in Han Chinese individuals with autism spectrum disorder.
Duplication
Performance of case-control rare copy number variation annotation in classification of autism.
Deletion-Duplication
STAG1 mutations cause a novel cohesinopathy characterised by unspecific syndromic intellectual disability.
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
ahn_13_SCZ_discovery_cases
Probands with childhood onset schizophrenia screened for 46 well-documented neurodevelopmental risk CNVs
126
Diagnosis of childhood onset schizophrenia (based on meeting DSM-IIR/DSM-IV criteria for schizophrenia with onset of psychosis before age of 13 years); medical or neurological disorders, or IQ under 70, were exclusionary criteria.
N/A
N/A
493000
0
1
1
christian_08_ASD_discovery_cases
Subset of unrelated AGRE subjects (362 from multiplex families, 35 from simplex families)
397
ASD
58.4% Male
310000
0
1
1
digregorio_17_DD/ID_discovery_cases
Consecutive cases examined in the Medical Genetics Unit at the "Citta della Salte e della Scienza" University Hospital (Turin, Italy) from 2008 to 2014 (cases with CNVs are present in DECIPHER database)
1015
Cases diagnosed with idiopathic developmental delay and/or intellectual disability (DD/ID)
N/A
N/A
227000
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
458465
1
5
6
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
189324
0
1
1
gannon_11_ASD/DD_discovery_cases
Children seen from 2007 to 2010 at Univ. of South Alabama Autism Diagnostic Clinic
187
Autism spectrum disorder (ASD; diagnosis made using DSM-IV criteria & AODS) and/or global developmental delay; cases evaluated for craniofacial dysmorphism
Mean age, ~44 mos.
~82% Male
NA
0
1
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
65082
0
2
2
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
375000
0
1
1
krumm_15_ASD_discovery_cases
Probands from the Simons Simplex Collection
2377
Diagnosis of ASD
N/A
N/A
391165
0
1
1
kushima_18_ASD_discovery_cases
Individuals predominantly recruited from the middle of Honshu Island (Japan)
1108
Cases were diagnosed with ASD according to DSM-5 criteria, with diagnostic and screening instruments (ADI-R, ADOS, ASQ, and SRS) used to evaluate ASD-related behaviors and symptoms in the majority of cases.
Median age, 19 years
78.0% Male
386966
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
864660
0
7
7
laffin_12_CAS_discovery_cases
Participants recruited and consented for a study of pediatric motor speech disorders
24
Diagnosis of childhood apraxia of speech (CAS) assessed by Madison Speech Assessment Protocol.
Mean, 8.3 3.7 yrs.
66% Male
223801
0
1
1
lehalle_17_DD/ID_discovery_cases
7 individuals from 6 families presenting with 3q22.3 deletion containing the STAG1 gene
7
All 7 cases present with developmental delay/intellectual disability; epilepsy observed in 3/7 cases, and autistic features observed in 2/7 cases
Range, 2-33 yrs.
57.14% Male
549
0
1
1
lesca_12_EP_discovery_cases
Epilepsy patients collected at four French hospitals from 2009: Strasbourg Univ. Hospital (n=40), Lyons Univ. Hospital (n=18), Henri Gastaut Hospital (St. Paul Centre) in Marseille (n=2), and Reims American Memorial Hospital (n=1).
61
Epilepsy/epileptic encephalopathy. 41 patients with continuous spike and wave during slow-wave sleep syndrome (CSWSS), 20 patients with Landau-Kleffner syndrome (LKS). 12 (out of 57) patients displayed autistic features; ADHD features (hyperactivity, attention deficit and/or aggressiveness) reported in 41/58 patients,
Mean age of diagnosis: 5.6 yrs. (range, 1-14 yrs.)
61% Male
412000
0
1
1
levy_11_ASD_discovery_cases
Autistic probands from 887 families from the Simons Simplex Collection (SSC)
858
ASD
87.06% Male
724431
0
2
2
marshall_08_ASD_discovery_cases
Cohort of ASD families (237 simplex, 189 mulitplex) recruited from the Hospital for Sick Children, McMaster Univ., Memorial Univ., and other sites
427
ASD
285200
0
2
2
nava_13_ASD_discovery_cases
Subjects recruited in the Centre de Reference deficiences intellectuelles de causes rares', the 'Centre Diagnostic Autisme', Pitie-Salpetriere Hospital (Paris, France) or the Fondation Lejeune over a period of 3 years (20092011).
194
Cases assessed with ADI-R
N/A
83.5% Male
147000
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
59109
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)
7073
0
2
2
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
276859
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
485667
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
718736
7
6
13
walker_13_ASD_discovery_cases
Unrelated ASD probands previously described in Lionel et al., 2011 and Pinto et al., 2010 CNV reports
1491
Diagnosis of ASD based on gold-standard instruments including ADI and ADOS.
N/A
N/A
458465
0
1
1
Controls
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
ahn_13_SCZ_discovery_controls
Full siblings of probands without diagnosis of neurodevelopmental disorder (19 full siblings from original cohort of 117 full siblings were excluded due to diagnoses of schizophrenia, autism, intellectual disability, or bipolar disorder)
98
Control
N/A
N/A
N/A
N/A
N/A
N/A
christian_08_ASD_discovery_controls
Control subjects from NIMH Genetics Initiative Control sample set, characterized for Axis I disorders
372
Controls
310000
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
196935
2
8
10
krumm_15_ASD_discovery_controls
Unaffected siblings from quad families from the Simons Simplex Collection
1786
Control
N/A
N/A
701891
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
300466
0
3
3
levy_11_ASD_discovery_controls
Unaffected siblings of autistic probands from 887 families from the Simons Simplex Collection (SSC)
863
Control
47.97% Male
724431
0
3
3
marshall_08_ASD_discovery_controls_1
German PopGen project and entries from Database of Genomic Variants
500
Controls
0
0
0
0
marshall_08_ASD_discovery_controls_2
Non-disease controls from Ontario population
1152
Controls
0
0
0
0
nord_11_ASD_discovery_controls
Samples from 367 total control individuals (319 European American, 48 African American) used to test for differences in rare CNV prevalence compared with autism cases
123
Controls (no history of psychiatric symptoms by self-report)
30 yrs.
250447
0
1
1
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)
0
0
0
0
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)
276859
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.
718736
3
8
11
sherman_21_ASD_discovery_controls
Unaffected siblings of ASD probands from the Simons Simplex Collection (n=2,424) and the SPARK cohort (n=3,076) screened for mosaic CNVs (mCNVs)
5500
Control (unaffected siblings of ASD probands)
Range, 3-18 yrs.
NA
200862
0
1
1
walker_13_ASD_discovery_controls
Control samples from the SAGE cohort (n=1287), from the Ottawa Heart Institute (n=1234), and from the POPGEN collection (n=1123)
3644
Control
N/A
N/A
458465
N/A
N/A
N/A
Cases
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
ahn_13_SCZ_discovery_cases
N/A
Solid phase hybridization
Illumina Human or HumanOmni Beadchips
PennCNV, QuantiSNP, GNOSIS
Illumina GenomeStudio, CNVision, Nexus copy number
Validation based on familial presence of CNV
christian_08_ASD_discovery_cases
235 White/Not Hispanic, 28 White/Hispanic, 9 Asians, 4 Blacks, 14 Mixed/Not Hispanic, 7 Mixed/Hispanic, 98 Unknown
aCGH
RPCI 19K BAC microarray
FISH, microsatellite, qPCR
digregorio_17_DD/ID_discovery_cases
Italian
aCGH
Agilent 60K (SurePrint G3 Human CGH Microarray 8x60K)
ADM-2
Agilent CGH Analytics software ver. 4.0.81
qPCR
engchuan_15_ASD_discovery_cases
Caucasian
Solid phase hybridization
Illumina 1M
None
gai_11_ASD_replication_cases
European
Solid phase hybridization
Illumina Infinium II HumanHap550 BeadChip
BeadStudio 3.0
None
gannon_11_ASD/DD_discovery_cases
Gulf Coast of Alabama, Mississippi, & Florida
aCGH
Genome-wide oligo array with 44K platform
None
gazzellone_14_ASD_discovery_cases
Han Chinese
Array SNP
Affymetrix CytoScan HD
ChAS, iPattern, Nexus, Partek
None
girirajan_13a_ASD_discovery_cases
NA
aCGH
Custom microarray with a high density of probes targeted to 1,367 regions with a susceptible genomic architecture
ADM-2
Agilent Genomic Workbench
None
krumm_15_ASD_discovery_cases
N/A
WES
CoNIFER, XHMM
Solid phase hybridization (Illumina 1M, 1 M Duo, or Omni 2.5)
kushima_18_ASD_discovery_cases
Japanese
aCGH
NimbleGen 720K, Agilent 400K
FASST2
Nexus Copy Number v.9.0
N/A
kushima_18_SCZ_discovery_cases
Japanese
aCGH
NimbleGen 720K, Agilent 400K
FASST2
Nexus Copy Number v.9.0
N/A
laffin_12_CAS_discovery_cases
NA
aCGH
Customized 385K NimbleGen array with increased coverage of genes & regions previously associated with CAS
OGT CytoSure Interpret v.3.4.3
None
lehalle_17_DD/ID_discovery_cases
N/A
aCGH
Agilent Human Genome CGH 180K
None
lesca_12_EP_discovery_cases
France
aCGH
Agilent SurePrint G3 Human CGH Microarray 4x180K
ADM-2
Agilent Feature Extraction v10.7.3.1, Agilent Genomic WORKBENCH v5.0.14
qPCR
levy_11_ASD_discovery_cases
aCGH
NimbleGen HD2
HMM
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
nava_13_ASD_discovery_cases
France
Solid phase hybridization
Illumina cytoSNP-12, Illumina 660W-Quad, Illumina 370CNV-Quad
GenomeStudio v.2011.1, CNVPartition v.3.1.6
None
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
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
walker_13_ASD_discovery_cases
N/A
Array SNP, solid phase hybridization
Illumina 1M, Affymetrix 6.0
QuantiSNP, PennCNV, Birdsuite, iPattern, Affymetrix Genotyping Console
None
Controls
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
ahn_13_SCZ_discovery_controls
N/A
Solid phase hybridization
Illumina Human or HumanOmni Beadchips
PennCNV, QuantiSNP, GNOSIS
Illumina GenomeStudio, CNVision, Nexus copy number
christian_08_ASD_discovery_controls
262 Caucasians, 100 African-Americans
aCGH
RPCI 19K BAC microarray
engchuan_15_ASD_discovery_controls
Caucasian
Solid phase hybridization
Illumina 1M
None
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
levy_11_ASD_discovery_controls
aCGH
NimbleGen HD2
HMM
marshall_08_ASD_discovery_controls_1
European
Array SNP, karotyping
Affymetrix 500K
dChip, CNAG, GEMCA
marshall_08_ASD_discovery_controls_2
European
Array SNP, karotyping
Affymetrix 500K
dChip, CNAG, GEMCA
nord_11_ASD_discovery_controls
aCGH
NimbleGen HD2
Sliding-window algorithm, ~10 kb minumum size threshold
None
poultney_13_ASD_discovery_controls
European
WES
Agilent SureSelect Human All Exon v.2
XHMM
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
sherman_21_ASD_discovery_controls
NA
Solid phase hybridization
Illumina 1Mv1, Illumina 1Mv3, Illumina Omni2.5, Illumina Infinium Global Screening Array-24 v.1.0
MoChA
None
walker_13_ASD_discovery_controls
N/A
Array SNP, solid phase hybridization
Illumina 1M, Affymetrix 6.0
QuantiSNP, PennCNV, Birdsuite, iPattern, Affymetrix Genotyping Console
None
Cases
Patient ID
Author, Year
Age
Gender
Primary Diagnosis
Clinical Profile
Cognitive Profile
CNV Start
CNV End
CNV Size
Genome Build
Type Method
Validation
ahn_13_SCZ_discovery_cases-NSB_ID534
N/A
N/A
Schizophrenia
Diagnosis of childhood onset schizophrenia (based on meeting DSM-IIR/DSM-IV criteria for schizophrenia with onset of psychosis before age of 13 years)
IQ 70
52475879
52968571
492693
GRCh38
Duplication
No
christian_08_ASD_discovery_cases-AU078503
NA
F
ASD
NA
NA
52358768
52642811
284044
GRCh38
Duplication
Yes
digregorio_17_DD/ID_discovery_cases-DECIPHER_300672
N/A
M
Cognitive impairment
Abnormal facial shape
Cognitive impairment
52554777
52782158
227382
GRCh38
Duplication
Yes
engchuan_15_ASD_discovery_cases-case3065_5
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
52818970
52853703
34734
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case3093_4
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
52443065
52901530
458466
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case4155_1
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
52784992
52972483
187492
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case4549_1
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
52749778
53057082
307305
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case5129_3
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
54142555
54201663
59109
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case5299_3
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
52962193
53004907
42715
GRCh38
Duplication
No
gai_11_ASD_replication_cases-AU078503
Autism
53539405
53728728
189324
Unknown
Duplication
No
gannon_11_ASD/DD_discovery_cases-patientE
ASD and/or DD
Dysmorphic features: unknown
IQ unknown
NA
NA
NA
Unknown
Duplication
No
gazzellone_14_ASD_discovery_cases-case520-3
N/A
M
ASD
ASD; no other clinical information provided
N/A
52580300
52636619
56320
GRCh38
Duplication
No
gazzellone_14_ASD_discovery_cases-case609-3
N/A
M
ASD
ASD; no other clinical information provided
N/A
53146439
53211521
65083
GRCh38
Duplication
No
girirajan_13a_ASD_discovery_cases-13338.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
53924887
54294887
370001
GRCh38
Duplication
No
krumm_15_ASD_discovery_cases-case11435.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
53756554
54147719
391166
GRCh38
Duplication
Yes
kushima_18_ASD_discovery_cases-caseASD0144
14 yrs.
M
ASD
Family history: negative.
IQ > 70
52556598
52839580
282983
GRCh38
Duplication
N/A
kushima_18_ASD_discovery_cases-caseASD0953
25 yrs.
M
ASD, epilepsy/seizures
Behavioral/psychiatric evaluation: sensory hypersensitivity. Epilepsy/seizures: positive for epileptic seizures/epilepsy. Congenital and developmental phenotypes: color blindness, inguinal hernia. Family history: positive for ASD and intellectual disability (ID).
IQ > 70
52477663
52864628
386966
GRCh38
Duplication
N/A
kushima_18_SCZ_discovery_cases-caseSCZ0550
54 yrs.
M
Schizophrenia
No additional clinical information reported for this individual. Family history: unknown.
52714195
52957953
243759
GRCh38
Duplication
N/A
kushima_18_SCZ_discovery_cases-caseSCZ1013
48 yrs.
F
Schizophrenia
No additional clinical information reported for this individual. Family history: unknown.
52425901
52662180
236280
GRCh38
Duplication
N/A
kushima_18_SCZ_discovery_cases-caseSCZ1715
28 yrs.
F
Schizophrenia
No additional clinical information reported for this individual. Family history: unknown.
52426168
52664096
237929
GRCh38
Duplication
N/A
kushima_18_SCZ_discovery_cases-caseSCZ1862
41 yrs.
M
Schizophrenia
No additional clinical information reported for this individual. Family history: unknown.
52698006
53562665
864660
GRCh38
Duplication
N/A
kushima_18_SCZ_discovery_cases-caseSCZ1978
54 yrs.
F
Schizophrenia
Behavioral/psychiatric evaluation: onset of schizophrenia at 34 years of age (core symptoms include delusions, hallucinations), mood symptoms. Family history: negative.
IQ > 70
52541254
52713461
172208
GRCh38
Duplication
N/A
kushima_18_SCZ_discovery_cases-caseSCZ2635
66 yrs.
F
Schizophrenia
No additional clinical information reported for this individual. Family history: unknown.
52541981
52850712
308732
GRCh38
Duplication
N/A
kushima_18_SCZ_discovery_cases-caseSCZ2666
52 yrs.
F
Schizophrenia
No additional clinical information reported for this individual. Family history: unknown.
52426168
52664096
237929
GRCh38
Duplication
N/A
laffin_12_CAS_discovery_cases-case8
10-15 yrs.
NA
CAS
Years of apraxia treatment: 6. Familial status: unknown. Language impairment: impairment in language onset. Motor impairment: impairments in gross motor and oral-nonverbal motor assessment tasks.
No cognitive impairment
53384312
53608113
223802
GRCh38
Duplication
No
lehalle_17_DD/ID_discovery_cases-patient1
8 yrs.
M
Intellectual disability
Birth/neonatal history: pregnancy marked by intrauterine growth retardation; born at 38 weeks; birth weight of 2370 g (1st %ile), length of 48 cm (25th %ile), and OFC of 31 cm (1st %ile); severe gastrointestinal reflux in neonatal period. Developmental milestones: developmental delay noticed from first months; walking at 23 months, spoke a few words at 5 years, made sentences at 7 years. Behavioral/psychiatric evaluation: anxious and quiet behavior. Epilepsy/seizures: none reported. Brain imaging: normal brain MRI and TDM. Dysmorphic features: high nasal bridge, deep-set eyes, wide mouth, widely spaced central incisors, thin eyebrows. Growth parameters: weight -3 SD, length -2 SD, and OFC -3 SD. Family history: sixth child of non-related parents; two siblings with minor learning difficulties, family history otherwise unremarkable.
Moderate intellectual disability
N/A
N/A
549000
GRCh37
Duplication
No
lesca_12_EP_discovery_cases-case3-81
NA
F
Epilepsy
Phenotype: LKS-wiESES. Seizure Characteristics: CPS. Autistic features: No. ADHD features: Yes. Other features: None.
Initial cognitive development: Normal. Cognitive regression: Yes. Verbal IQ 89, performance IQ 84 (at 8 years of age).
52484566
52896393
411828
GRCh38
Duplication
Yes
levy_11_ASD_discovery_cases-11077.p1
NA
M
ASD
NA
NA
52798744
52940820
142077
GRCh38
Duplication
No
levy_11_ASD_discovery_cases-11435.p1
NA
M
ASD
NA
NA
53554651
54279081
724431
GRCh38
Duplication
No
marshall_08_ASD_discovery_cases-MM0236-004
NA
M
ASD
Mild repetititve behavior, difficulty hearing
IQ/LOF 84
52649332
52921011
271680
GRCh38
Duplication
Yes
marshall_08_ASD_discovery_cases-SK0143-003
NA
M
ASD
RL/EL severe delay, moderate speech unintelligibility, repetitive behavior, and dysmorphism, seizures
IQ/LOF 65
52406087
52691287
285201
GRCh38
Duplication
Yes
nava_13_ASD_discovery_cases-Fam789Proband9996
N/A
M
ASD
Additional clinical profile info N/A
ID
52493948
52640617
146670
GRCh38
Duplication
No
pinto_10_ASD_discovery_cases-case5129_3
NA
F
ASD
NA
NA
54142555
54201663
59109
GRCh38
Deletion
Yes
poultney_13_ASD_discovery_cases-case00HI1422A
N/A
F
ASD
ASD case from AGRE (AGRE ID AU071803; NDAR ID NDAR_INVBN319UY9)
54048063
54055135
7073
GRCh38
Duplication
No
poultney_13_ASD_discovery_cases-case01HI2124A
N/A
F
ASD
ASD case from AGRE (AGRE ID AU080104; NDAR ID NDAR_INVHV745NHR)
54048063
54055135
7073
GRCh38
Duplication
No
prasad_12_ASD_discovery_cases-case46475
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
53740918
54017776
276859
Unknown
Duplication
No
prasad_12_ASD_discovery_cases-case47389
NA
F
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
55216384
55264413
48030
Unknown
Deletion
No
quintela_17_DD/ID_discovery_cases-caseID_390
10 yrs.
F
Intellectual disability
Additional clinical information N/A
Intellectual disability
52949114
53434780
485667
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11048.p1
6.5
M
Autism
NA
Full-scale IQ, 66; non-verbal IQ, 75; verbal IQ, 58
54056765
54065635
8871
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11077.p1
12.2
M
Autism
NA
Full-scale IQ, 33; non-verbal IQ, 36; verbal IQ, 26
52798886
52939110
140225
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11165.p1
5.2
M
Autism
NA
Full-scale IQ, 104; non-verbal IQ, 112; verbal IQ 89
53867614
53888767
21154
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11422.p1
6.1
M
Autism
NA
Full-scale IQ, 101; non-verbal IQ, 96; verbal IQ, 106
53670589
53677417
6829
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11435.p1
17.7
M
Autism
NA
Full-scale IQ, 65; non-verbal IQ, 63; verbal IQ, 70
53134545
53195768
61224
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11435.p1
17.7
M
Autism
NA
Full-scale IQ, 65; non-verbal IQ, 63; verbal IQ, 70
53555063
54273799
718737
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11556.p1
9.7
M
Autism
NA
Full-scale IQ, 102; non-verbal IQ, 102; verbal IQ, 108
52971460
52976231
4772
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11731.p1
9.1
M
Autism
NA
Full-scale IQ, 72; non-verbal IQ, 82; verbal IQ, 60
52962193
53006876
44684
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12337.p1
11.6
M
ASD
NA
Full-scale IQ, 121; non-verbal IQ, 112; verbal IQ, 131
53751425
53826512
75088
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12638.p1
9.9
M
Autism
NA
Full-scale IQ, 73; non-verbal IQ, 81; verbal IQ, 63
53888767
53897607
8841
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12964.p1
6.9
M
Autism
NA
Full-scale IQ, 38; non-verbal IQ, 48; verbal IQ, 28
52931188
53026951
95764
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-13166.p1
9.1
M
Autism
NA
Full-scale IQ, 46; non-verbal IQ, 47; verbal IQ, 45
53875691
53897607
21917
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-13266.p1
7.9
M
Autism
NA
Full-scale IQ, 87; non-verbal IQ, 95; verbal IQ, 81
52864277
52867876
3600
GRCh38
Deletion
No
walker_13_ASD_discovery_cases-case8-3093-004
N/A
M
ASD
N/A
N/A
52443065
52901530
458466
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-controlB381252_1007852903
N/A
N/A
Control
No previous psychiatric history
52468345
52658240
189896
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlB381252_1007852903
N/A
N/A
Control
No previous psychiatric history
52875006
52968571
93566
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlB404952_1007854757
N/A
N/A
Control
No previous psychiatric history
52943206
53004907
61702
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlB495422_1007852884
N/A
N/A
Control
No previous psychiatric history
53985567
54100127
114561
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlB519374_1007852901
N/A
N/A
Control
No previous psychiatric history
53966723
54100127
133405
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlB921922_1007844480
N/A
N/A
Control
No previous psychiatric history
52479502
52653615
174114
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlB937063_1007875107
N/A
N/A
Control
No previous psychiatric history
52443065
52640000
196936
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlB937063_1007875107
N/A
N/A
Control
No previous psychiatric history
52896896
52979638
82743
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlB964889_1007843494
N/A
N/A
Control
No previous psychiatric history
52836999
52884343
47345
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlHABC_902501_902501
N/A
N/A
Control
No previous psychiatric history
52437727
52468345
30619
GRCh38
Duplication
No
krumm_15_ASD_discovery_controls-control11435.s1
N/A
Male
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
53756554
54458445
701892
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_controls-control12211.s1
N/A
Female
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
52628031
52685469
57439
GRCh38
Duplication
Yes
kushima_18_ASD/SCZ_discovery_controls-controlCON0558
19 yrs.
F
Control
This individual had no history of mental disorders based upon responses to questionnaires or self-reporting.
52425901
52658056
232156
GRCh38
Duplication
N/A
kushima_18_ASD/SCZ_discovery_controls-controlCON1282
37 yrs.
M
Control
This individual had no history of mental disorders based upon responses to questionnaires or self-reporting.
52409340
52709805
300466
GRCh38
Duplication
N/A
kushima_18_ASD/SCZ_discovery_controls-controlCON1780
42 yrs.
F
Control
This individual had no history of mental disorders based upon responses to questionnaires or self-reporting.
52426168
52664096
237929
GRCh38
Duplication
N/A
levy_11_ASD_discovery_controls-11077.s1
NA
M
Control
NA
NA
52798744
52940820
142077
GRCh38
Duplication
No
levy_11_ASD_discovery_controls-11435.s1
NA
M
Control
NA
NA
53554651
54279081
724431
GRCh38
Duplication
No
levy_11_ASD_discovery_controls-12211.s1
NA
F
Control
NA
NA
52498030
52908865
410836
GRCh38
Duplication
No
nord_11_ASD_discovery_controls-04C27708
Control
54763661
55014107
250447
Unknown
Duplication
sanders_11_ASD_discovery_controls-11077.s1
14.8
M
Control (matched sibling)
NA
NA
52798886
52939110
140225
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11435.s1
23.3
M
Control (matched sibling)
NA
NA
53134545
53194050
59506
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11435.s1
23.3
M
Control (matched sibling)
NA
NA
53555063
54273799
718737
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11520.s1
10.8
M
Control (matched sibling)
NA
NA
52468345
52606217
137873
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11731.s1
5.3
F
Control (matched sibling)
NA
NA
52962193
53004907
42715
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-12211.s1
11.2
F
Control (matched sibling)
NA
NA
52504391
52905538
401148
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-12359.s1
6.3
F
Control (matched sibling)
NA
NA
53869414
53888767
19354
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12661.s1
11.2
F
Control (matched sibling)
NA
NA
53888767
53897607
8841
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12937.s1
18.9
M
Control (matched sibling)
NA
NA
52836999
52884364
47366
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-12964.s1
8.5
M
Control (matched sibling)
NA
NA
52931188
53029113
97926
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-13183.s1
10.8
F
Control (matched sibling)
NA
NA
53049337
53078258
28922
GRCh38
Deletion
No
sherman_21_ASD_discovery_controls-SSC_11473.s1
NA
F
Control
Unaffected sibling from the Simons Simplex Collection. SCQ summary score: NA. Mosaic cell fraction: 0.4452. CNV occurs on the maternal haplotype.
52674145
52875006
200862
GRCh38
Duplication
No
Cases
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
ahn_13_SCZ_discovery_cases-NSB_ID534
Unknown
Unknown
Unknown
NPBWR1,ALKAL1,RB1CC1
christian_08_ASD_discovery_cases-AU078503
FISH, microsatellite
inherited
Multiplex
NA
ALKAL1,RB1CC1,ST18
digregorio_17_DD/ID_discovery_cases-DECIPHER_300672
qPCR
Unknown
ALKAL1,RB1CC1
engchuan_15_ASD_discovery_cases-case3065_5
Unknown
engchuan_15_ASD_discovery_cases-case3093_4
Unknown
ALKAL1,RB1CC1,ST18
engchuan_15_ASD_discovery_cases-case4155_1
Unknown
NPBWR1
engchuan_15_ASD_discovery_cases-case4549_1
Unknown
NPBWR1
engchuan_15_ASD_discovery_cases-case5129_3
Unknown
MRPL15,RNU6ATAC32P
engchuan_15_ASD_discovery_cases-case5299_3
Unknown
gai_11_ASD_replication_cases-AU078503
Inherited
FAM150A, RB1CC1
gannon_11_ASD/DD_discovery_cases-patientE
Unknown
Unknown
NA
gazzellone_14_ASD_discovery_cases-case520-3
Unknown
Unknown
Unknown
RB1CC1
gazzellone_14_ASD_discovery_cases-case609-3
Unknown
Unknown
Unknown
girirajan_13a_ASD_discovery_cases-13338.p1
Unknown
Simplex
Unknown
TDGF1P5,MRPL15,RNU6ATAC32P,LYPLA1,RGS20,TCEA1
krumm_15_ASD_discovery_cases-case11435.p1
Illumina 1M
Maternal
Simplex
Not segregated (CNV in unaffected sibling)
RPS27AP13,RNU6-1331P,TDGF1P5,MRPL15,LYPLA1,ATP6V1H,RGS20,TCEA1
kushima_18_ASD_discovery_cases-caseASD0144
While a subset of CNVs were reported to have been validated by qPCR in the report, precisely which CNVs were validated was not reported
Inherited
Simplex
Unknown
ALKAL1,RB1CC1
kushima_18_ASD_discovery_cases-caseASD0953
While a subset of CNVs were reported to have been validated by qPCR in the report, precisely which CNVs were validated was not reported
Inherited
Not simplex
Unknown
ALKAL1,RB1CC1
kushima_18_SCZ_discovery_cases-caseSCZ0550
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
Unknown
Unknown
NPBWR1,RB1CC1
kushima_18_SCZ_discovery_cases-caseSCZ1013
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
Unknown
Unknown
ALKAL1,RB1CC1,ST18
kushima_18_SCZ_discovery_cases-caseSCZ1715
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
Unknown
Unknown
ALKAL1,RB1CC1,ST18
kushima_18_SCZ_discovery_cases-caseSCZ1862
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
Unknown
Unknown
NPBWR1,MAPK6P1,OPRK1,RB1CC1
kushima_18_SCZ_discovery_cases-caseSCZ1978
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
ALKAL1,RB1CC1
kushima_18_SCZ_discovery_cases-caseSCZ2635
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
Unknown
Unknown
ALKAL1,RB1CC1
kushima_18_SCZ_discovery_cases-caseSCZ2666
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
Unknown
Unknown
ALKAL1,RB1CC1,ST18
laffin_12_CAS_discovery_cases-case8
Unknown
Unknown
Unknown
MAPK6P1
lehalle_17_DD/ID_discovery_cases-patient1
Paternal
Simplex
Unknown (likely not segregated)
N/A
lesca_12_EP_discovery_cases-case3-81
qPCR
Paternal
Unknown
Unknown
ALKAL1,RB1CC1
levy_11_ASD_discovery_cases-11077.p1
Maternal
Simplex
Not segregated
NPBWR1
levy_11_ASD_discovery_cases-11435.p1
Maternal
Simplex
Not segregated
RPS27AP13,RNU6-1331P,TDGF1P5,MRPL15,RNU6ATAC32P,LYPLA1,ATP6V1H,RGS20,TCEA1
marshall_08_ASD_discovery_cases-MM0236-004
qPCR, qmPCR
Unknown
Multiplex
NA
RB1CC1
marshall_08_ASD_discovery_cases-SK0143-003
qPCR, qmPCR
Unknown
Simplex
NA
ALKAL1,RB1CC1,ST18
nava_13_ASD_discovery_cases-Fam789Proband9996
Unknown (not maternal), absent in 2 affected brothers
Multiplex
Not segregated
ALKAL1,RB1CC1
pinto_10_ASD_discovery_cases-case5129_3
Agilent1M
maternal
NA
NA
MRPL15,RNU6ATAC32P
poultney_13_ASD_discovery_cases-case00HI1422A
Unknown
Unknown (likely multiplex/AGRE)
Unknown
LYPLA1
poultney_13_ASD_discovery_cases-case01HI2124A
Unknown
Unknown (likely multiplex/AGRE)
Unknown
LYPLA1
prasad_12_ASD_discovery_cases-case46475
Unknown
Unknown
Unknown
RB1CC1,NPBWR1
prasad_12_ASD_discovery_cases-case47389
Unknown
Multiplex
Unknown
MRPL15
quintela_17_DD/ID_discovery_cases-caseID_390
Unknown
Unknown
OPRK1
sanders_11_ASD_discovery_cases-11048.p1
Unknown
Simplex (quad-proband matched)
Segregated
LYPLA1
sanders_11_ASD_discovery_cases-11077.p1
Maternal
Simplex (quad-proband matched)
Not segregated
NPBWR1
sanders_11_ASD_discovery_cases-11165.p1
Paternal
Simplex (trio)
NA
RPS27AP13,RGS20
sanders_11_ASD_discovery_cases-11422.p1
Maternal
Simplex (quad-proband matched)
Segregated
sanders_11_ASD_discovery_cases-11435.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11435.p1
Maternal
Simplex (quad-proband matched)
Not segregated
RPS27AP13,RNU6-1331P,TDGF1P5,MRPL15,RNU6ATAC32P,LYPLA1,ATP6V1H,RGS20,TCEA1
sanders_11_ASD_discovery_cases-11556.p1
Paternal
Simplex (quad-proband matched)
Segregated
sanders_11_ASD_discovery_cases-11731.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12337.p1
Unknown
Simplex (quad-proband matched)
Segregated
ATP6V1H
sanders_11_ASD_discovery_cases-12638.p1
Unknown
Simplex (quad-proband matched)
Not segregated
RGS20
sanders_11_ASD_discovery_cases-12964.p1
Maternal
Simplex (quad-proband matched)
Not segregated
NPBWR1
sanders_11_ASD_discovery_cases-13166.p1
Unknown
Simplex (quad-proband matched)
Not segregated
RPS27AP13,RGS20
sanders_11_ASD_discovery_cases-13266.p1
Maternal
Simplex (quad-proband matched)
Not segregated
walker_13_ASD_discovery_cases-case8-3093-004
Unknown
Multiplex
Unknown
ALKAL1,RB1CC1,ST18
Controls
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
engchuan_15_ASD_discovery_controls-controlB381252_1007852903
Unknown
ALKAL1,RB1CC1
engchuan_15_ASD_discovery_controls-controlB381252_1007852903
Unknown
NPBWR1
engchuan_15_ASD_discovery_controls-controlB404952_1007854757
Unknown
engchuan_15_ASD_discovery_controls-controlB495422_1007852884
Unknown
TDGF1P5,LYPLA1,TCEA1
engchuan_15_ASD_discovery_controls-controlB519374_1007852901
Unknown
TDGF1P5,LYPLA1,TCEA1
engchuan_15_ASD_discovery_controls-controlB921922_1007844480
Unknown
ALKAL1,RB1CC1
engchuan_15_ASD_discovery_controls-controlB937063_1007875107
Unknown
ALKAL1,RB1CC1,ST18
engchuan_15_ASD_discovery_controls-controlB937063_1007875107
Unknown
NPBWR1
engchuan_15_ASD_discovery_controls-controlB964889_1007843494
Unknown
engchuan_15_ASD_discovery_controls-controlHABC_902501_902501
Unknown
ST18
krumm_15_ASD_discovery_controls-control11435.s1
Illumina 1M
Maternal
RPS27AP13,RNU6-1331P,TDGF1P5,MRPL15,RNU6ATAC32P,RNU105C,RN7SL250P,LYPLA1,SOX17,ATP6V1H,RGS20,TCEA1
krumm_15_ASD_discovery_controls-control12211.s1
Illumina 1MDuo
Maternal
RB1CC1
kushima_18_ASD/SCZ_discovery_controls-controlCON0558
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
ALKAL1,RB1CC1,ST18
kushima_18_ASD/SCZ_discovery_controls-controlCON1282
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
ALKAL1,RB1CC1,ST18
kushima_18_ASD/SCZ_discovery_controls-controlCON1780
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
ALKAL1,RB1CC1,ST18
levy_11_ASD_discovery_controls-11077.s1
Maternal
Simplex
NA
NPBWR1
levy_11_ASD_discovery_controls-11435.s1
Maternal
Simplex
NA
RPS27AP13,RNU6-1331P,TDGF1P5,MRPL15,RNU6ATAC32P,LYPLA1,ATP6V1H,RGS20,TCEA1
levy_11_ASD_discovery_controls-12211.s1
Maternal
Simplex
NA
ALKAL1,RB1CC1
nord_11_ASD_discovery_controls-04C27708
ATP6V1H,RGS20
sanders_11_ASD_discovery_controls-11077.s1
Maternal
Simplex (quad)
NA
NPBWR1
sanders_11_ASD_discovery_controls-11435.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11435.s1
Maternal
Simplex (quad)
NA
RPS27AP13,RNU6-1331P,TDGF1P5,MRPL15,RNU6ATAC32P,LYPLA1,ATP6V1H,RGS20,TCEA1
sanders_11_ASD_discovery_controls-11520.s1
Maternal
Simplex (quad)
NA
ALKAL1
sanders_11_ASD_discovery_controls-11731.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12211.s1
Maternal
Simplex (quad)
NA
ALKAL1,RB1CC1
sanders_11_ASD_discovery_controls-12359.s1
Paternal
Simplex (quad)
NA
RPS27AP13,RGS20
sanders_11_ASD_discovery_controls-12661.s1
Paternal
Simplex (quad)
NA
RGS20
sanders_11_ASD_discovery_controls-12937.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12964.s1
Maternal
Simplex (quad)
NA
NPBWR1
sanders_11_ASD_discovery_controls-13183.s1
Maternal
Simplex (quad)
NA
sherman_21_ASD_discovery_controls-SSC_11473.s1
RB1CC1
No Animal Model Data Available