4q22.1CNV Type: Deletion-Duplication
Largest CNV size: 182297 bp
Statistics Box:
Number of Reports: 27
Number of Reports: 27
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.
Deletion
Copy number variations associated with autism spectrum disorders contribute to a spectrum of neurodevelopmental disorders.
Deletion
De novo rates and selection of large copy number variation.
Duplication
An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabili...
Duplication
Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations.
Deletion
Refinement and discovery of new hotspots of copy-number variation associated with autism spectrum disorder.
Deletion-Duplication
Deletions in GRID2 lead to a recessive syndrome of cerebellar ataxia and tonic upgaze in humans.
Deletion
Both rare and de novo copy number variants are prevalent in agenesis of the corpus callosum but not in cerebellar hypoplasia or polymicrogyria.
Deletion-Duplication
Convergence of genes and cellular pathways dysregulated in autism spectrum disorders.
Duplication
The clinical significance of small copy number variants in neurodevelopmental disorders.
Deletion
Excess of rare, inherited truncating mutations in autism.
Deletion-Duplication
Identification of genetic causes of congenital neurodevelopmental disorders using genome wide molecular technologies.
Deletion
Cross-Disorder Analysis of Genic and Regulatory Copy Number Variations in Bipolar Disorder
Deletion
Minor Reports
Title
Author, Year
Report Class
CNV Type
Reduced transcript expression of genes affected by inherited and de novo CNVs in autism.
Deletion
Multiple recurrent de novo CNVs, including duplications of the 7q11.23 Williams syndrome region, are strongly associated with autism.
Deletion-Duplication
A discovery resource of rare copy number variations in individuals with autism spectrum disorder.
Deletion-Duplication
Identification of small exonic CNV from whole-exome sequence data and application to autism spectrum disorder.
Deletion
Performance of case-control rare copy number variation annotation in classification of autism.
Deletion-Duplication
Copy-number variations are enriched for neurodevelopmental genes in children with developmental coordination disorder.
Deletion
Comparative Analyses of Copy-Number Variation in Autism Spectrum Disorder and Schizophrenia Reveal Etiological Overlap and Biological Insights.
Deletion
Exome sequencing of 457 autism families recruited online provides evidence for autism risk genes
Duplication
Genetic Diagnostic Yield in Autism Spectrum Disorder (ASD) and Epilepsy Phenotypes in Children with Genetically Defined ASD
Duplication
Cases
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
akkus_24_ASD/DD/ID_discovery_cases
Patients with developmental delay/intellectual disability, autism spectrum disorder, and/or multiple congenital anomalies consulted by the Department of Medical Genetics at the Health Sciences University Kocaeli Derince Training and Research Hospital between January 1, 2017 and March 30, 2021.
1227
Patients presented with developmental delay/intellectual disability, autism spectrum disorder, and/or multiple congenital anomalies.
57.13% Male
1326660
1
0
1
annunziata_21_ASD_discovery_cases
Cases referred between 2008 and 2015 to the Developmental Neurology Unit of the Fondazione IRCCS Istituto Neurologico Carlo Besta (Milan, Italy)
209
Cases given a clinical diagnosis of ASD according to DSM-5 criteria and confirmed by ADOS-Generic or ADOS-2 and/or ADI-R
Range, 2-17 yrs. (Mean, 5 yrs. 8 mos. 3 yrs. 5 mos.)
80.86% Male
164173
0
1
1
asadollahi_14_NDD_discovery_cases
Patients screened for rare non-polymorphic exonic CNVs sizing 1-500 kb
714
Patients with undiagnosed neurodevelopmental disorders (NDD) with or without further congenital anomalies
N/A
N/A
13000
1
0
1
cucinotta_23_ASD_discovery_cases
Idiopathic ASD patients from 310 families (263 simplex and 47 multiplex) recruited at the Service for Neurodevelopmental Disorders at Campus Bio-Medico University Hospital in Rome (Italy) and at the Interdepartmental Program Autism 090 of the G. Martino University Hospital (Messina, Italy) between the years 2012 and 2019.
329
Clinical diagnosis of ASD based on fulfilling DSM-5 criteria and confirmed using ADOS-2 and ADI-R.
NA
84.19% Male
19394
1
1
2
egle_16_DD/ID_discovery_cases
Patients assessed in the course of the Lithuanian-Swiss cooperation programme "Research and Development", the joint research project "Unique Genome Variants in Congenital Neurodevelopment Disorders: Origin, Genomic Mechanisms, Functional and Clinical Consequences" (UNIGENE)
66
All cases present with either syndromic or non-syndromic developmental delay/intellectual disability (DD/ID), ranging from mild to profound
N/A
N/A
200000
1
0
1
engchuan_15_ASD_discovery_cases
Samples from the Autism Genome Project (AGP)
1892
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
N/A
85.78% Male
75211
1
5
6
feliciano_19_ASD_discovery_cases
ASD probands from 457 families (418 simplex, 39 multiplex) from the SPARK cohort
465
All cases diagnosed with ASD
Range of age at enrollment, 1.544.6 years
80.86% Male
796198
0
1
1
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
1132906
1
1
2
hills_13_DD/ID_discovery_cases
Affected individuals from two families (one consanguineous, one non-consanguineous) presenting with a syndrome causing cerebellar ataxia, eye movement abnormalities, and delayed speech and cognitive development
4
Developmental delay/intellectual disability (speech delay and cognitive delay), cerebellar ataxia, eye movement abnormalities (tonic upgaze, nystagmus)
Range, 4 yrs 3 mos-14 yrs 1 mo
25% Male
50000
1
0
1
itsara_10_ASD_discovery_cases
ASD probands from multiplex (n=1270) and simplex (n=60) families from AGRE collection
1330
ASD: Autism, broad spectrum autism (Spectrum), or NQA (not quite autism)
1131318
0
1
1
kaminsky_11_DD/ID/ASD_discovery_cases
Cases from the International Standards for Cytogenomic Arrays (ISCA) consortium
15749
Unexplained developmental delay, intellectual disability, dysmorphic features, multiple congenital anomalies, autism spectrum disorders, or clinical features suggestive of a chromosomal syndrome
NA
NA
1028892
0
2
2
krumm_13_ASD_discovery_cases
Probands from quad families ascertained as part of the Simons Simplex Collection (SSC); CNVs detected using data from four previously published exome sequencing studies (O'Roak et al., 2011; Iossifov et al., 2012; O'Roak et al., 2012; Sanders et al., 2012)
411
Diagnosis of ASD. Social Responsiveness Scale (SRS) used as a quantitative measure of social deficits
N/A
81.265% Male
57615
2
0
2
krumm_15_ASD_discovery_cases
Probands from the Simons Simplex Collection
2377
Diagnosis of ASD
N/A
N/A
18609
1
1
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
142290
1
0
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
142291
1
0
1
lob_24_ASD_discovery_cases
Patients with ASD whose electronic medical records (EMRs) were queried from April 1, 2015 through March 31, 2020 and who had at least one genetic testing result documented in their chart; study completed at the Children's Neurodevelopmental Center, Hasbro Children's Hospital, Providence, RI.
523
Cases diagnosed with ASD (ICD-10 code F.84), with the majority of diagnoses made using the ADOS-2 followed by CARS.
Range, 1-18 yrs.
76.67% Male
1062097
0
1
1
maini_18_ASD/DD/ID_discovery_cases
Patients evaluated at the Clinical Genetics Unit of Arcispedale Santa Maria Nuova, AUSL-IRCCS of Reggio Emilia that were investigated through aCGH between 2005 and 2016
293
Cases presented with one or more neurodevelopmental disorders (NDD), multiple congenital anomalies (MCA), and/or dysmorphic features. Most frequent neurodevelopmental diagnoses include language delay (78.5%), intellectual disability (66.4%), motor delay (50.7%), and ASD (13.9%); dysmorphic features were also frequently observed (52.7%)
Mean age, 7 yrs. (range, 1 mo.-29 yrs.)
57.5% Male
260000
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
89482
1
0
1
mosca_16_DCD_discovery_cases
Participants recruited as part of a multidisciplinary study at the Alberta Children's Hospital (Calgary, Alberta, Canada)
82
All cases met diagnostic criteria for developmental coordination disorder (DCD) with or without co-occurring ADHD and/or reading disorder.
Range, 8-17 years (Mean, 10.06 2.92 yrs.)
N/A
22087
1
0
1
nord_11_ASD_discovery_cases
Youth with ASD (as part of mother-father-child trios)
41
ASD
85.4% Male
12188
1
0
1
o'roak_12_ASD_discovery_cases
Autistic probands from the Simons Simplex Collection (SSC), from an initial cohort of 189 autism families
122
ASD/autism
NA
NA
95180
1
0
1
pinto_14_ASD_discovery_cases
ASD probands from simplex and multiplex families collected as part of stage 2 of the Autism Genome Project (AGP) after quality control (1,604 before QC)
1359
Cases classified according to ADOS and ADI-R
N/A
N/A
35013
0
1
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)
18613
1
0
1
prasad_12_ASD_discovery_cases
Unrelated ASD cases recruited from three Canadian sites (Hospital for Sick Children, McMaster University, and Memorial University of Newfoundland); the majority of cases had been previously genotyped with results published in Marshall et al., 2008 and Pinto et al., 2010. 20 cases from initial cohort of 696 were excluded from further analysis (due to CNVs > 5 Mb).
676
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS
NA
82.84% Male
97285
6
2
8
rosenfeld_10_ASD_discovery_cases
Samples submitted between 3/2004 and 7/2008 that had ASD as indication for study (Signature Genomic Labs, Spokane, WA)
1461
ASD
247797
1
0
1
sajan_13_ACC/CBLH/PMG_discovery_cases
Individuals with severe congenital brain malformations [agenesis of the corpus callosum (ACC), cerebellar hypoplasia (CBLH), and/or polymicrogyria (PMG)] and additional neurodevelopmental phenotypes
487
Diagnosis of agenesis of the corpus callosum (ACC), cerebellar hypoplasia (CBLH), and/or polymicrogyria (PMG); additional diagnoses of autism spectrum disorder (ASD), developmental delay (DD), intellectual disability (ID) and/or seizures in some patients
N/A
N/A
288539
2
1
3
sanders_11_ASD_discovery_cases
Autistic probands from the Simons Simplex Collection (SSC). 872 probands in quartet families, 272 probands in trios.
1124
ASD diagnosis: 89.5% autism; 8.5% PDD-NOS, 2% Asperger syndrome. Mean full-scale IQ 85.1 1.5 (mean verbal IQ, 81.9 1.7; mean non-verbal IQ, 88.4 1.4)
Mean, 9.1 yrs.
86.1% Male
182297
15
2
17
Controls
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
egle_16_DD/ID_discovery_controls
CNVs from the Database of Genomic Variants (DGV)
N/A
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
305909
5
3
8
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_13_ASD_discovery_controls
Unaffected siblings of ASD probands from quad families ascertained as part of the Simons Simplex Collection (SSC); CNVs detected using data from four previously published exome sequencing studies (O'Roak et al., 2011; Iossifov et al., 2012; O'Roak et al., 2012; Sanders et al., 2012)
411
Control (unaffected siblings of ASD probands). Social Responsiveness Scale (SRS) used as a quantitative measure of social deficits
N/A
46.47% Male
57615
1
0
1
krumm_15_ASD_discovery_controls
Unaffected siblings from quad families from the Simons Simplex Collection
1786
Control
N/A
N/A
0
0
0
0
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.
0
0
0
0
poultney_13_ASD_discovery_controls
Controls matched for European ancestry from NIMH and CEPH retained after filtering (original cohort size of 379 controls)
260
Control
N/A
47.49% Male (before filtering)
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)
97285
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.
182297
12
1
13
Cases
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
akkus_24_ASD/DD/ID_discovery_cases
Turkey
Array SNP
Affymetrix CytoScan Optima
ThermoFisher ChAS v.3.1.
annunziata_21_ASD_discovery_cases
Italy
aCGH
BlueGnome ISCA180K (Agilent)
BlueGnome Bluefuse
qPCR, FISH
asadollahi_14_NDD_discovery_cases
Predominantly European
Array SNP
Affymetrix 6.0, Affymetrix Cytogenetics 2.7, Affymetrix CytoScan HD
HMM
Affymetrix ChAS v.1.0.1
MLPA
cucinotta_23_ASD_discovery_cases
Italy
aCGH
Agilent SurePrint 4180K
ADM-2
Agilent Feature Extraction v.10.7., Agilent Cytogenomic Software v.4.0.3.12.
None
egle_16_DD/ID_discovery_cases
Lithuania
aCGH
Agilent 60K, Agilent 105K, or Agilent 1M
ADM-2
Feature Extraction 10.7.3.1, CytoGenomics 3.0.0.27 (Agilent)
FISH or RT-PCR
engchuan_15_ASD_discovery_cases
Caucasian
Solid phase hybridization
Illumina 1M
None
feliciano_19_ASD_discovery_cases
N/A
WES
Illumina HumanCoreExome 550K
CoNIFER, XHMM
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
aCGH (NimbleGen 135K array)
hills_13_DD/ID_discovery_cases
Jordanian (3 cases), Mexican (1 case)
aCGH
Agilent 8x60K custom microarray
eArray
qPCR
itsara_10_ASD_discovery_cases
Solid phase hybridization
Illumina HumanHap550v1 and v3 SNP array
HMM
Illumina GenomeStudio
aCGH (custom NimbleGen 12 X 135)
kaminsky_11_DD/ID/ASD_discovery_cases
NA
aCGH
Agilent 44K, Agilent 105K
Feature Extraction, DNA Analytics
FISH, qPCR, MLPA, aCGH, standard G-banded chromosome analysis
krumm_13_ASD_discovery_cases
N/A
WES
Whole exome sequencing platforms used in four recent publications (O'Roak et al., 2011; Sanders et al., 2012; O'Roak et al., 2012, and Iossifov et al., 2012)
DNACopy, CGHCall
CoNIFER
None
krumm_15_ASD_discovery_cases
N/A
WES
CoNIFER, XHMM
Solid phase hybridization (Illumina 1M, 1 M Duo, or Omni 2.5)
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
lob_24_ASD_discovery_cases
United States
CMA
maini_18_ASD/DD/ID_discovery_cases
Italian
aCGH, array SNP
Multiple platforms, including Agilent and Affymetrix arrays (8x60K oligochips since 2012)
None
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
mosca_16_DCD_discovery_cases
Canada
Solid phase hybridization
Illumina HumanOmni2.5-Quad BeadChip
iPattern, PennCNV, QuantiSNP, CNVPartition
None
nord_11_ASD_discovery_cases
29 European American, 3 Asian American, 2 Hispanic, 2 African American, 5 unknown ancestry
aCGH
NimbleGen HD2
Sliding-window algorithm, ~10 kb minumum size threshold
None
o'roak_12_ASD_discovery_cases
NA
WES
NimbleGen EZ Exome V2.0, Illumina GAIIx or HiSeq2000
HMM
mrsFAST aligner
aCGH, Sanger sequencing
pinto_14_ASD_discovery_cases
Predominantly European
Solid phase hybridization
Illumina 1M (v.1 and v.3)
qPCR, MLPA, long-range PCR
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
rosenfeld_10_ASD_discovery_cases
aCGH
BACs aCGH, whole-genome oligo-aCGH
FISH
sajan_13_ACC/CBLH/PMG_discovery_cases
81.31% Caucasian
Solid phase hybridization
Illumina InfiniumII HumanHap610
PennCNV
qPCR
sanders_11_ASD_discovery_cases
White non-Hispanic, 74.5%; mixed, 9.3%, Asian, 4.3%, White Hispanic, 4.0%, African-American, 3.8%; other, 4.2&
Solid phase hybridization
Illumina 1M v1, Illumina 1M v3
PennCNV, QuantiSNP, GNOSIS
Controls
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
egle_16_DD/ID_discovery_controls
N/A
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_13_ASD_discovery_controls
N/A
WES
Whole exome sequencing platforms used in four recent publications (O'Roak et al., 2011; Sanders et al., 2012; O'Roak et al., 2012, and Iossifov et al., 2012)
DNACopy, CGHCall
CoNIFER
Solid phase hybridization (Illumina 1M), aCGH (Agilent SurePrint G3 4x180K), or confirmed by manual inspection
krumm_15_ASD_discovery_controls
N/A
WES
CoNIFER, XHMM
None
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
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
Cases
Patient ID
Author, Year
Age
Gender
Primary Diagnosis
Clinical Profile
Cognitive Profile
CNV Start
CNV End
CNV Size
Genome Build
Type Method
Validation
akkus_24_ASD/DD/ID_discovery_cases-case6B
6 yrs.
M
Developmental delay/intellectual disability
Developmental delay/intellectual disability, microcephaly
Developmental delay/intellectual disability
88835241
90161900
1326660
GRCh38
Deletion
No
annunziata_21_ASD_discovery_cases-caseIB263
NA
M
ASD
Case diagnosed with ASD; no additional clinical information available.
Cognitive profile NA
90816686
90980858
164173
GRCh38
Duplication
Yes
asadollahi_14_NDD_discovery_cases-case62611
3 yrs.
F
Developmental delay and epilepsy
Developmental delay, muscular hypotonia, epilepsy. Patient also has heterozygous de novo missense variant in SCN2A (c.4025T>C; p.L1342P).
87298527
87312346
13820
GRCh38
Deletion
Yes
cucinotta_23_ASD_discovery_cases-case70
NA
NA
ASD
Clinical diagnosis of ASD based on fulfilling DSM-5 criteria and confirmed using ADOS-2 and ADI-R.
90430034
90448621
18588
GRCh38
Deletion
No
cucinotta_23_ASD_discovery_cases-case86
NA
NA
ASD
Clinical diagnosis of ASD based on fulfilling DSM-5 criteria and confirmed using ADOS-2 and ADI-R.
92624682
92644075
19394
GRCh38
Duplication
No
egle_16_DD/ID_discovery_cases-case19_1
4 yrs.
M
Autism and developmental delay
Autism, stereotypic movements, regression
Developmental delay
92314978
92538222
223245
GRCh38
Deletion
Yes
engchuan_15_ASD_discovery_cases-case14279_4020
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
91257564
91332775
75212
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case16095_1571145001
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
89571615
89606627
35013
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case3521_3
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
89651171
89718364
67194
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case4147_1
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
88101190
88162514
61325
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case4154_1
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
91973653
92019560
45908
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case4289_1
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
91268439
91332775
64337
GRCh38
Duplication
No
feliciano_19_ASD_discovery_cases-caseSP0019186
N/A
M
ASD
Family history: mother presents with depression, ADHD, language disorder, and speech delay,
89927795
90723992
796198
GRCh38
Duplication
No
girirajan_13a_ASD_discovery_cases-13638.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
92467561
92610664
143104
GRCh38
Deletion
Yes
girirajan_13a_ASD_discovery_cases-AU1286301
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
92361051
93493957
1132907
GRCh38
Duplication
Yes
hills_13_DD/ID_discovery_cases-caseCH-5401
4 yrs. 3 mos.
F
Developmental delay/intellectual disability
Developmental milestones: single words at 1.5 years; rolled over at 12 months, sat without support at 36 months. Language and communication evaluation: currently speaks in 2-word sentences (since age of 2.5 years), understands one-step commands. Motor and musculoskeletal evaluation: just started walking with support; normal muscle tone; truncal and appendicular ataxia. Abnormal eye movements: occasional tonic upgaze, bursts of horizontal hystagmus. Brain imaging: progressive atrophy of cerebellar vermis and hemispheres observed on brain MRI. Growth parameters: head circumference of 49 cm (30th %ile). Family history: non-consanguineous family of Mexican heritage (CH-5400).
Developmental delay/intellectual disability
92559959
92610106
50148
GRCh38
Deletion
Yes
itsara_10_ASD_discovery_cases-HI3765
NA
NA
Autism
NA
NA
92364776
93496094
1131319
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004995
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
91409940
92438832
1028893
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005148
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
91475388
92438832
963445
GRCh38
Duplication
Yes
krumm_13_ASD_discovery_cases-case12409.p1
N/A
M
ASD
ASD proband from SSC quad family 12409. SRS score of 77.
Full-scale IQ (FSIQ) score of 107.
89056937
89114552
57616
GRCh38
Deletion
No (not tested)
krumm_13_ASD_discovery_cases-case13533.p1
N/A
M
ASD
ASD proband from SSC quad family 13533. SRS score of 71.
Full-scale IQ (FSIQ) score of 47.
89934809
89953418
18610
GRCh38
Deletion
No (not tested)
krumm_15_ASD_discovery_cases-case11167.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
88262594
88278583
15990
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_cases-case13533.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
89934809
89953418
18610
GRCh38
Deletion
Yes
kushima_18_SCZ_discovery_cases-caseSCZ0468
17 yrs.
F
Schizophrenia
No additional clinical information reported for this individual. Family history: unknown.
92590068
92732357
142290
GRCh38
Deletion
N/A
kushima_22_SCZ_discovery_cases-caseSCZ0468
NA
NA
Schizophrenia
Diagnosis of schizophrenia according to DSM-5 criteria.
92590067
92732357
142291
GRCh38
Deletion
Yes
lob_24_ASD_discovery_cases-caseASD275
ASD, ADHD, and developmental delay
Case diagnosed with ASD (ICD-10 code F.84) and also presented with facial asymmetry, global developmental delay, aggression, sensory processing disorder, anxiety, and ADHD.
91485704
92547800
1062097
GRCh38
Duplication
No
maini_18_ASD/DD/ID_discovery_cases-case_unknown163
N/A
N/A
NDD/MCA/dysmorphic features
CNV was identified in an individual with one or more neurodevelopmental disorders (NDD), multiple congenital anomalies (MCA), and/or dysmorphic features (detailed clinical information was not available). CNV classified as variant of unknown significance-likely benign (VOUS-LB)
92438773
92700394
261622
GRCh38
Duplication
No
marshall_08_ASD_discovery_cases-MM0176-003
NA
M
ASD
NA
NA
89941792
90031273
89482
GRCh38
Deletion
Yes
mosca_16_DCD_discovery_cases-case109503
N/A
M
DCD (with or without ADHD and/or RD)
Ancestry: unknown. Family history: maternal diagnosis unknown; paternal diagnosis unknown.
91940620
91962706
22087
GRCh38
Deletion
No
nord_11_ASD_discovery_cases-301-1
ASD
89015687
89027874
12188
Unknown
Deletion
No
o'roak_12_ASD_discovery_cases-case13533.p1
NA
M
ASD/Autism
Case also identified with de novo SLCO1C1 missense mutation. No additional clinical info available.
Low IQ. Non verbal IQ, 55
89936093
90031273
95181
GRCh38
Deletion
Yes
pinto_14_ASD_discovery_cases2-case16095_1571145001
N/A
M
ASD
Clinical profile: N/A.
Cognitive profile: N/A.
89571615
89606627
35013
GRCh38
Duplication
Yes
poultney_13_ASD_discovery_cases-case05HI4554A
N/A
M
ASD
ASD case from AGRE (AGRE ID AU1497302; NDAR ID NDAR_INVZC074TCK)
89934808
89953420
18613
GRCh38
Deletion
No
prasad_12_ASD_discovery_cases-case101464
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
93783990
93794806
10817
Unknown
Deletion
No
prasad_12_ASD_discovery_cases-case138145L
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
91073984
91171268
97285
Unknown
Deletion
No
prasad_12_ASD_discovery_cases-case139459L
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
93783990
93794806
10817
Unknown
Deletion
No
prasad_12_ASD_discovery_cases-case147230
NA
F
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
93302188
93359245
57058
Unknown
Duplication
No
prasad_12_ASD_discovery_cases-case51165L
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
93780494
93794806
14313
Unknown
Deletion
No
prasad_12_ASD_discovery_cases-case58929L
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
92453441
92483901
30461
Unknown
Duplication
No
prasad_12_ASD_discovery_cases-case76222
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
93783990
93794806
10817
Unknown
Deletion
No
prasad_12_ASD_discovery_cases-case96086L
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
93780494
93794806
14313
Unknown
Deletion
No
rosenfeld_10_ASD_discovery_cases-case26406
NA
NA
ASD
NA
NA
93115488
93363285
247797
Unknown
Deletion
Yes
sajan_13_ACC/CBLH/PMG_discovery_cases-case1016-0
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: no.
90002403
90290941
288539
GRCh38
Duplication
No
sajan_13_ACC/CBLH/PMG_discovery_cases-case1385-0
N/A
N/A
ACC
Diagnosis of agenesis of the corpus callosum (ACC). ASD: no. Seizures: yes.
Developmental delay: yes. Intellectual disability: yes.
87265357
87307076
41720
GRCh38
Deletion
Yes
sajan_13_ACC/CBLH/PMG_discovery_cases-caseLR02-186
N/A
N/A
CBLH
Diagnosis of cerebellar hypoplasia (CBLH).
88890044
89013055
123012
GRCh38
Deletion
Yes
sanders_11_ASD_discovery_cases-11010.p1
4.1
M
Autism
NA
Full-scale IQ, 65; non-verbal IQ, 68; verbal IQ, 60
91359782
91363784
4003
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11096.p1
13.6
M
Autism
NA
Full-scale IQ, 85; non-verbal IQ, 87; verbal IQ, 95
92642118
92650555
8438
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11167.p1
11
M
Autism
NA
Full-scale IQ, 113; non-verbal IQ, 119; verbal IQ, 105
88261366
88307776
46411
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11220.p1
12.1
F
Autism
NA
Full-scale IQ, 80; non-verbal IQ, 87; verbal IQ, 75
91359782
91363784
4003
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11355.p1
8.8
M
ASD
NA
Full-scale IQ, 69; non-verbal IQ, 73; verbal IQ, 67
91359782
91363784
4003
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11365.p1
14.7
M
Autism
NA
Full-scale IQ, 62; non-verbal IQ, 63; verbal IQ, 64
91359782
91363784
4003
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11502.p1
16.1
F
Autism
NA
Full-scale IQ, 154; non-verbal IQ, 148; verbal IQ, 145
91359782
91363784
4003
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11505.p1
6.3
M
Autism
NA
Full-scale IQ, 76; non-verbal IQ, 85; verbal IQ, 67
91973653
92019560
45908
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11536.p1
5.8
M
ASD
NA
Full-scale IQ, 98; non-verbal IQ, 101; verbal IQ, 95
91359782
91363784
4003
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11679.p1
6.4
M
Autism
NA
Full-scale IQ, 97; non-verbal IQ, 106; verbal IQ, 84
92642118
92650555
8438
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11768.p1
8.4
M
Autism
NA
Full-scale IQ, 85; non-verbal IQ, 84; verbal IQ, 89
89905609
89910654
5046
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12221.p1
4.1
M
Autism
NA
Full-scale IQ, 89; non-verbal IQ, 99; verbal IQ, 76
89905609
89910654
5046
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12227.p1
12.4
M
Autism
NA
Full-scale IQ, 137; non-verbal IQ, 146; verbal IQ, 106
91262929
91274172
11244
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12409.p1
10.8
M
Autism
NA
Full-scale IQ, 107; non-verbal IQ, 106; verbal IQ, 109
89046141
89228438
182298
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12558.p1
10.5
M
Autism
NA
Full-scale IQ, 81; non-verbal IQ, 95; verbal IQ, 51
91973653
92019560
45908
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-13218.p1
6.9
M
Autism
NA
Full-scale IQ, 98; non-verbal IQ, 98; verbal IQ, 93
91942191
91962706
20516
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-13233.p1
13.6
M
Autism
NA
Full-scale IQ, 90; non-verbal IQ, 95; verbal IQ, 84
90228195
90244195
16001
GRCh38
Deletion
No
Controls
Patient ID
Author, Year
Age
Gender
Primary Diagnosis
Clinical Profile
Cognitive Profile
CNV Start
CNV End
CNV Size
Genome Build
Type Method
Validation
engchuan_15_ASD_discovery_controls-controlB277797_1007853793
N/A
N/A
Control
No previous psychiatric history
92577967
92669394
91428
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlB621960_1007854303
N/A
N/A
Control
No previous psychiatric history
89936093
90031273
95181
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlB764926_1007854164
N/A
N/A
Control
No previous psychiatric history
92698199
92789118
90920
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlHABC_900225_900225
N/A
N/A
Control
No previous psychiatric history
89253771
89559680
305910
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlHABC_900835_900835
N/A
N/A
Control
No previous psychiatric history
92831383
93018599
187217
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlHABC_900989_900989
N/A
N/A
Control
No previous psychiatric history
91268439
91336440
68002
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlHABC_902479_902479
N/A
N/A
Control
No previous psychiatric history
91431347
91557217
125871
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlHABC_902635_902635
N/A
N/A
Control
No previous psychiatric history
89936093
90031273
95181
GRCh38
Deletion
No
krumm_13_ASD_discovery_controls-control12409.s1
N/A
F
Control
Unaffected sibling from SSC quad family 12409. SRS score of 44.
89056937
89114552
57616
GRCh38
Deletion
Yes
sanders_11_ASD_discovery_controls-11041.s1
15.7
M
Control (matched sibling)
NA
NA
91359782
91363784
4003
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11071.s1
20
F
Control (matched sibling)
NA
NA
91359782
91363784
4003
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11299.s1
4.3
M
Control (matched sibling)
NA
NA
91359782
91363784
4003
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11365.s1
13.1
F
Control (matched sibling)
NA
NA
91349559
91365454
15896
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11397.s1
8.3
F
Control (matched sibling)
NA
NA
91359782
91363784
4003
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11410.s1
11.3
F
Control (matched sibling)
NA
NA
91359782
91363784
4003
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11505.s1
9.9
F
Control (matched sibling)
NA
NA
91973653
92019560
45908
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11696.s1
16.8
M
Control (matched sibling)
NA
NA
91359782
91363784
4003
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12198.s1
11.3
M
Control (matched sibling)
NA
NA
91359782
91363784
4003
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12247.s1
6.3
F
Control (matched sibling)
NA
NA
91268439
91340853
72415
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-12409.s1
9
F
Control (matched sibling)
NA
NA
89046141
89228438
182298
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12552.s1
4.2
M
Control (matched sibling)
NA
NA
89905609
89912270
6662
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12656.s1
16.3
M
Control (matched sibling)
NA
NA
91126170
91133412
7243
GRCh38
Deletion
No
Cases
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
akkus_24_ASD/DD/ID_discovery_cases-case6B
Unknown
TIGD2,GPRIN3,CCSER1,SNCA-AS1,SNCA,RNU6-907P,FAM13A,MMRN1
annunziata_21_ASD_discovery_cases-caseIB263
qPCR, FISH
Maternal
CCSER1,TMSB4XP8
asadollahi_14_NDD_discovery_cases-case62611
MLPA
Paternal
Unknown
Unknown
MIR5705,HSD17B13
cucinotta_23_ASD_discovery_cases-case70
Maternal
CCSER1
cucinotta_23_ASD_discovery_cases-case86
Maternal
GRID2
egle_16_DD/ID_discovery_cases-case19_1
FISH or RT-PCR
Paternal
GRID2
engchuan_15_ASD_discovery_cases-case14279_4020
Unknown
CCSER1
engchuan_15_ASD_discovery_cases-case16095_1571145001
Unknown
engchuan_15_ASD_discovery_cases-case3521_3
Unknown
engchuan_15_ASD_discovery_cases-case4147_1
Unknown
ABCG2
engchuan_15_ASD_discovery_cases-case4154_1
Unknown
engchuan_15_ASD_discovery_cases-case4289_1
Unknown
CCSER1
feliciano_19_ASD_discovery_cases-caseSP0019186
Paternal
RN7SKP248,MMRN1,CCSER1
null
girirajan_13a_ASD_discovery_cases-13638.p1
aCGH (NimbleGen 135K array)
Paternal
Simplex
Unknown
GRID2
girirajan_13a_ASD_discovery_cases-AU1286301
aCGH (NimbleGen 135K array)
De novo
Multiplex
Likely not segregated
MTND1P19,GRID2
hills_13_DD/ID_discovery_cases-caseCH-5401
qPCR
Maternal
Simplex
Segregated (as part of compound heterozygous GRID2 deletion)
GRID2
itsara_10_ASD_discovery_cases-HI3765
aCGH (custom NimbleGen 12 X 135)
De novo
Multiplex
MTND1P19,GRID2
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004995
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
KRT19P6,PMPCAP1,CCSER1,GRID2,LNCPRESS2
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005148
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
KRT19P6,PMPCAP1,CCSER1,GRID2,LNCPRESS2
krumm_13_ASD_discovery_cases-case12409.p1
Maternal
Simplex
Not segregated
TIGD2,FAM13A
krumm_13_ASD_discovery_cases-case13533.p1
Paternal
Simplex
Segregated
MMRN1
krumm_15_ASD_discovery_cases-case11167.p1
Illumina 1MDuo
Paternal
Simplex
Segregated
RNU6-112P,PPM1K
krumm_15_ASD_discovery_cases-case13533.p1
1M-Duov3
Paternal
Simplex
Segregated
MMRN1
kushima_18_SCZ_discovery_cases-caseSCZ0468
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
MTND1P19,GRID2
kushima_22_SCZ_discovery_cases-caseSCZ0468
qRT-PCR
Unknown
GRID2,MTND1P19
lob_24_ASD_discovery_cases-caseASD275
Unknown
PMPCAP1,GRID2,CCSER1,LNCPRESS2,KRT19P6
maini_18_ASD/DD/ID_discovery_cases-case_unknown163
De novo
Unknown
Unknown
GRID2
marshall_08_ASD_discovery_cases-MM0176-003
qPCR, qmPCR
Unknown
NA
NA
MMRN1
mosca_16_DCD_discovery_cases-case109503
Unknown
Unknown
Unknown
nord_11_ASD_discovery_cases-301-1
Maternal
0 genes
o'roak_12_ASD_discovery_cases-case13533.p1
aCGH, Sanger sequencing
Paternal
Simplex (quad)
Unknown
MMRN1
pinto_14_ASD_discovery_cases2-case16095_1571145001
qPCR
Maternal
Simplex
(not tested)
poultney_13_ASD_discovery_cases-case05HI4554A
Unknown
Unknown (likely multiplex/AGRE)
Unknown
MMRN1
prasad_12_ASD_discovery_cases-case101464
Unknown
Unknown
Unknown
GRID2
prasad_12_ASD_discovery_cases-case138145L
Unknown
Unknown
Unknown
MMRN1
prasad_12_ASD_discovery_cases-case139459L
Unknown
Unknown
Unknown
GRID2
prasad_12_ASD_discovery_cases-case147230
Unknown
Unknown
Unknown
0 genes
prasad_12_ASD_discovery_cases-case51165L
Unknown
Unknown
Unknown
GRID2
prasad_12_ASD_discovery_cases-case58929L
Unknown
Unknown
Unknown
FAM190A
prasad_12_ASD_discovery_cases-case76222
Unknown
Unknown
Unknown
GRID2
prasad_12_ASD_discovery_cases-case96086L
Unknown
Unknown
Unknown
GRID2
rosenfeld_10_ASD_discovery_cases-case26406
FISH
Maternal
Unknown
Unknown
0 genes
sajan_13_ACC/CBLH/PMG_discovery_cases-case1016-0
Not tested by qPCR
Unknown
Unknown
Unknown
CCSER1
sajan_13_ACC/CBLH/PMG_discovery_cases-case1385-0
qPCR
Unknown
Unknown
Unknown
MIR5705,HSD17B13
sajan_13_ACC/CBLH/PMG_discovery_cases-caseLR02-186
qPCR
Maternal
Unknown
Unknown
FAM13A
sanders_11_ASD_discovery_cases-11010.p1
Maternal
Simplex (quad-proband matched)
Segregated
CCSER1
sanders_11_ASD_discovery_cases-11096.p1
Maternal
Simplex (quad-proband matched)
Not segregated
GRID2
sanders_11_ASD_discovery_cases-11167.p1
Paternal
Simplex (quad-proband matched)
Segregated
RNU6-112P,PPM1K
sanders_11_ASD_discovery_cases-11220.p1
Maternal
Simplex (quad-proband matched)
Not segregated
CCSER1
sanders_11_ASD_discovery_cases-11355.p1
Paternal
Simplex (quad-proband matched)
Not segregated
CCSER1
sanders_11_ASD_discovery_cases-11365.p1
Maternal
Simplex (quad-proband matched)
Not segregated
CCSER1
sanders_11_ASD_discovery_cases-11502.p1
Paternal
Simplex (quad-proband matched)
Not segregated
CCSER1
sanders_11_ASD_discovery_cases-11505.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11536.p1
Maternal
Simplex (quad-proband matched)
Not segregated
CCSER1
sanders_11_ASD_discovery_cases-11679.p1
Maternal
Simplex (quad-proband matched)
Not segregated
GRID2
sanders_11_ASD_discovery_cases-11768.p1
Unknown
Simplex (quad-proband matched)
Segregated
MMRN1
sanders_11_ASD_discovery_cases-12221.p1
Unknown
Simplex (quad-proband unmatched)
Unknown
MMRN1
sanders_11_ASD_discovery_cases-12227.p1
Paternal
Simplex (quad-proband matched)
Not segregated
CCSER1
sanders_11_ASD_discovery_cases-12409.p1
Maternal
Simplex (quad-proband matched)
Not segregated
RNU6-907P,TIGD2,FAM13A
sanders_11_ASD_discovery_cases-12558.p1
Paternal
Simplex (trio)
NA
sanders_11_ASD_discovery_cases-13218.p1
Maternal
Simplex (quad-proband unmatched)
Unknown
sanders_11_ASD_discovery_cases-13233.p1
Maternal
Simplex (quad-proband matched)
Not segregated
CCSER1
Controls
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
engchuan_15_ASD_discovery_controls-controlB277797_1007853793
Unknown
GRID2
engchuan_15_ASD_discovery_controls-controlB621960_1007854303
Unknown
MMRN1
engchuan_15_ASD_discovery_controls-controlB764926_1007854164
Unknown
MTND1P19,GRID2
engchuan_15_ASD_discovery_controls-controlHABC_900225_900225
Unknown
GPRIN3
engchuan_15_ASD_discovery_controls-controlHABC_900835_900835
Unknown
GRID2
engchuan_15_ASD_discovery_controls-controlHABC_900989_900989
Unknown
CCSER1
engchuan_15_ASD_discovery_controls-controlHABC_902479_902479
Unknown
CCSER1
engchuan_15_ASD_discovery_controls-controlHABC_902635_902635
Unknown
MMRN1
krumm_13_ASD_discovery_controls-control12409.s1
Solid phase hybridization (Illumina 1M) and aCGH (Agilent SurePrint G3 4x180K)
Maternal
Simplex
TIGD2,FAM13A
sanders_11_ASD_discovery_controls-11041.s1
Maternal
Simplex (quad)
NA
CCSER1
sanders_11_ASD_discovery_controls-11071.s1
Paternal
Simplex (quad)
NA
CCSER1
sanders_11_ASD_discovery_controls-11299.s1
Paternal
Simplex (quad)
NA
CCSER1
sanders_11_ASD_discovery_controls-11365.s1
Maternal
Simplex (quad)
NA
CCSER1
sanders_11_ASD_discovery_controls-11397.s1
Maternal
Simplex (quad)
NA
CCSER1
sanders_11_ASD_discovery_controls-11410.s1
Maternal
Simplex (quad)
NA
CCSER1
sanders_11_ASD_discovery_controls-11505.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11696.s1
Maternal
Simplex (quad)
NA
CCSER1
sanders_11_ASD_discovery_controls-12198.s1
Paternal
Simplex (quad)
NA
CCSER1
sanders_11_ASD_discovery_controls-12247.s1
Maternal
Simplex (quad)
NA
CCSER1
sanders_11_ASD_discovery_controls-12409.s1
Maternal
Simplex (quad)
NA
RNU6-907P,TIGD2,FAM13A
sanders_11_ASD_discovery_controls-12552.s1
Unknown
Simplex (quad)
NA
MMRN1
sanders_11_ASD_discovery_controls-12656.s1
Paternal
Simplex (quad)
NA
CCSER1
No Animal Model Data Available