7p21.1CNV Type: Deletion-Duplication
Largest CNV size: 912600 bp
Statistics Box:
Number of Reports: 28
Number of Reports: 28
Summary Information
Summary statement in development
Additional Locus Information
References
Major Reports
Title
Author, Year
Report Class
CNV Type
Strong association of de novo copy number mutations with autism.
Deletion
Novel submicroscopic chromosomal abnormalities detected in autism spectrum disorder.
Duplication
Functional impact of global rare copy number variation in autism spectrum disorders.
Deletion-Duplication
Copy number variations associated with autism spectrum disorders contribute to a spectrum of neurodevelopmental disorders.
Deletion-Duplication
A genotype resource for postmortem brain samples from the Autism Tissue Program.
Deletion
Copy number variation characteristics in subpopulations of patients with autism spectrum disorders.
Deletion
An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabili...
Deletion-Duplication
Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations.
Duplication
Homozygous deletions implicate non-coding epigenetic marks in Autism spectrum disorder
Deletion
Minor Reports
Title
Author, Year
Report Class
CNV Type
Identifying autism loci and genes by tracing recent shared ancestry.
Deletion
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
Rare deletions at the neurexin 3 locus in autism spectrum disorder.
Deletion
A discovery resource of rare copy number variations in individuals with autism spectrum disorder.
Deletion-Duplication
Refinement and discovery of new hotspots of copy-number variation associated with autism spectrum disorder.
Duplication
Global increases in both common and rare copy number load associated with autism.
Duplication
Identification of candidate intergenic risk loci in autism spectrum disorder.
Duplication
Transmission disequilibrium of small CNVs in simplex autism.
Deletion-Duplication
Identification of small exonic CNV from whole-exome sequence data and application to autism spectrum disorder.
Deletion-Duplication
Disruption of the ASTN2/TRIM32 locus at 9q33.1 is a risk factor in males for autism spectrum disorders, ADHD and other neurodevelopmental phenotypes.
Deletion
Copy number variation in Han Chinese individuals with 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
Paternally inherited cis-regulatory structural variants are associated with autism.
Deletion
Cases
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
brandler_18_ASD_replication_cases
Affected individuals from MSSNG cohort (1395 cases from 1187 families) and the Simons Simplex 2 (SSC2) cohort (584 cases from simplex quad families)
1979
Cases diagnosed with ASD
N/A
N/A
1815
1
0
1
bremer_11_ASD_discovery_cases
223 ASD cases (164 sporadic cases, 27 familial cases. 3 adopted, 4 family history unavailable) recruited from neuropediatric units in Stockholm County and from child & adolescent psychiatric outpatient clinics in Sweden
223
25 syndromic cases (dysmorphic features and/or growth disorders and/or malformations) with IQ within normal range, 45 cases syndromic with MR (IQ < 70), 60 cases non-syndromic with normal IQ, 93 cases non-syndromic with MR
71.3% Male
130000
1
0
1
christian_08_ASD_discovery_cases
Subset of unrelated AGRE subjects (362 from multiplex families, 35 from simplex families)
397
ASD
58.4% Male
600000
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
492019
3
7
10
gai_11_ASD_discovery_cases
Discovery case samples derived from AGRE set 4 (most recent patient recruitment)
631
Idiopathic autism; cases designated as 'spectrum' and 'not quite autism' excluded, as were cases with known genetic syndromes or other non-idiopathic causes
512776
0
2
2
gai_11_ASD_replication_cases
Replication case samples derived from AGRE sets 1-3
593
Idiopathic autism; cases designated as 'spectrum' and 'not quite autism' excluded, as were cases with known genetic syndromes or other non-idiopathic causes
499257
0
3
3
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
118165
1
0
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
504000
0
2
2
girirajan_13b_ASD_discovery_cases
Children with autism ascertained from the Childhood Autism Risks from Genetics and Environment (CHARGE) study conducted through the Medical Investigation of Neurodevelopmental Disorders (MIND) Institute at UC-Davis after passing QC criteria (274 initial cases)
243
Diagnosis of autism confirmed by ADOS and ADI-R. Exclusion criteria: children with developmental delay but lacking symptoms and autism, as well as children with ASD as defined by the CHARGE protocol
N/A
N/A
406847
0
1
1
han_22_ASD/DD/ID_discovery_cases
Probands with ASD or unexplained developmental delay/intellectual disability with or without other congenital anomalies from Shandong province in Northern China who were referred for genetic services from January 2014 to December 2018.
410
151 cases diagnosed with ASD (DSM-5 criteria, ADOS-2, confirmed by CARS score > 30) and 259 patients diagnosed with developmental delay/intellectual disability (DSM-5 criteria, confirmed by Gesell developmental scale DQ score < 75 and Wechsler Intelligence Scale for Children-Revised with IQ<70).
Mean age, 2 yrs. 11 mos.
68.78% Male
54499
1
0
1
kaminsky_11_DD/ID/ASD_discovery_cases
Cases from the International Standards for Cytogenomic Arrays (ISCA) consortium
15749
Unexplained developmental delay, intellectual disability, dysmorphic features, multiple congenital anomalies, autism spectrum disorders, or clinical features suggestive of a chromosomal syndrome
NA
NA
834614
3
5
8
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
543321
2
1
3
krumm_15_ASD_discovery_cases
Probands from the Simons Simplex Collection
2377
Diagnosis of ASD
N/A
N/A
543321
0
2
2
levy_11_ASD_discovery_cases
Autistic probands from 887 families from the Simons Simplex Collection (SSC)
858
ASD
87.06% Male
912600
0
1
1
lionel_13_ASD/ADHD/DD/ID_discovery_cases
Individuals referred for postnatal genetic testing across 10 different sites, including 64,114 subjects with neurodevelopmental disorders, from Alberta Children's Hospital, BBGRE, Boston Children's Hospital, Credit Valley Hospital, the Hospital for Sick Children, Italian diagnostic laboratories, The Mayo Clinic, Odense University Hospital, Signature Genomics, and The Centre for Applied Genomics
89985
64,114 cases with neurodevelopmental disorders (including ASD, ADHD, developmental delay, and/or intellectual disability); 25,871 cases with non-neurodevelopmental disorders (multiple congential anomalies, etc.)
N/A
N/A
52546
1
0
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
870000
0
1
1
morrow_08_ASD_discovery_cases
Affected individuals from 70 families (52 simplex, 18 multiplex) recruited by Homozygosity Mapping Collaborative for Autism (HMCA) used in CNV analysis. This cohort was selected from an original population of affected individuals from 104 families (79 simplex, 25 multiplex; 82.7% male); 88 of these pedigrees have cousin marriages.
94
ASD (based on DSM-IV-TR diagnoses when research scales not available in native language)
84700
2
0
2
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
71134
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
994830
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
324356
1
2
3
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)
464559
1
2
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
910018
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
1991188
1
1
2
rosenfeld_10_non-ASD_discovery_cases
Samples submitted between 3/2004 and 7/2008 that did not have ASD as indication for study (Signature Genomic Labs, Spokane, WA)
21219
Controls (no diagnosis or indication of ASD)
0
0
0
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
907569
30
11
41
schmitz-abe_20_ASD_discovery_cases
ASD probands rom 187 families from the Homozygosity Mapping Collaborative of Autism (HMCA); 22% of families had more than one affected child, and 66% of families were consanguineous.
255
Diagnosis of autism or ASD made by a neurologist, child psychiatrist, or psychologist; DSM-IV-R criteria confirmed in all individuals with an Autism diagnosis
N/A
N/A
15301
6
0
6
sebat_07_ASD_discovery_cases
118 ASD patients from simplex families, 77 from multiplex families (AGRE, NIMH, University of Tampere, Fay J. Lindner Center for Autism andDevelopmental Disorders, Vanderbilt University, University of Chicago)
195
Diagnosis of ASD (Autism, broad spectrum , or Asperger syndrome) made by ADI-R & ADOS criteria, syndromic autism cases excluded
151800
1
0
1
vaags_11_ASD_discovery_cases
Discovery cohort of Canadian individuals with ASD
1158
ASD
NA
NA
13767
1
0
1
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
907376
0
1
1
wintle_10_ASD_discovery_cases
Autism Tissue Program: postmortem brain tissue from Harvard Brain Tissue Resource Center (HBTRC)
34
26 subjects with confirmed or suspected autism, 4 subjects with confirmed autism and 15q duplication, 2 subjects with epilepsy, 1 subject with 15q duplication, & 1 subject with Angelman syndrome
Mean, 25.97 18.93
73.53% Male
55100
1
0
1
Controls
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
christian_08_ASD_discovery_controls
Control subjects from NIMH Genetics Initiative Control sample set, characterized for Axis I disorders
372
Controls
600000
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
310737
12
5
17
girirajan_13b_ASD_discovery_controls
Controls ascertained from the Childhood Autism Risks from Genetics and Environment (CHARGE) study conducted through the Medical Investigation of Neurodevelopmental Disorders (MIND) Institute at UC-Davis after passing QC criteria (242 initial controls)
223
Control
N/A
N/A
0
0
0
0
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
19300
0
1
1
krumm_15_ASD_discovery_controls
Unaffected siblings from quad families from the Simons Simplex Collection
1786
Control
N/A
N/A
2906
0
1
1
leppa_16_ASD_discovery_controls
Unaffected children from 1,464 families from the Autism Genetic Resource Exchange (AGRE)
572
Control
N/A
N/A
500000
0
1
1
levy_11_ASD_discovery_controls
Unaffected siblings of autistic probands from 887 families from the Simons Simplex Collection (SSC)
863
Control
47.97% Male
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)
464559
0
1
1
prasad_12_ASD_discovery_controls
PDx controls [1000 DNA samples from reportedly healthy donors (50.2% male) from BioServe (Beltsville, MD)] and 4139 in-house controls previously reported in Krawcak et al. 2006, Stewart et al. 2009, and Bierut et al. 2010. CNVs identified in controls were used to define rare ASD-specific CNVs.
5139
Control
NA
NA (PDx controls 50.2% male)
910018
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.
244904
28
3
31
sebat_07_ASD_discovery_controls
Controls from families with no diagnoses of autism (AGRE, NIMH, University of Tampere, Vanderbilt University, University of Chicago, Columbia University, the Centre dEtude du Polymorphisme Humain Utah Panel (CEPH), McLean Hospital/Harvard University)Polymorphisme Humain Utah Panel (CEPH), McLean Hospital/Harvard University
196
Controls
151800
0
0
0
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
907376
N/A
N/A
N/A
wintle_10_ASD_discovery_controls_2
Control samples from POPGEN (n=1123) & Ottawa Heart Institute (n=1234); used for identification of rare CNVs in Affymetrix data
2357
Controls
51.3% Male
55100
0
0
0
Cases
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
brandler_18_ASD_replication_cases
N/A
WGS
Illumina HiSeq X10
ForestSV, Lumpy, Manta, Mobster, SV2
None
bremer_11_ASD_discovery_cases
Swedish
aCGH
BAC 33K, BAC 38K , Agilent 244K, Agilent 180K
MLPA, FISH
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
engchuan_15_ASD_discovery_cases
Caucasian
Solid phase hybridization
Illumina 1M
None
gai_11_ASD_discovery_cases
European
Solid phase hybridization
Illumina Infinium II HumanHap550 BeadChip
BeadStudio 3.0
None
gai_11_ASD_replication_cases
European
Solid phase hybridization
Illumina Infinium II HumanHap550 BeadChip
BeadStudio 3.0
None
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
girirajan_13b_ASD_discovery_cases
133 European, 57 Hispanic, 27 Mixed Race, 20 Asian, 6 African-American
aCGH
Roche NimbleGen custom targeted hotspot array comprised of 135,000 probes with higher density probe coverage in genomic hotspots (regions flanked by segmental duplications)
DNA Copy Number v1.6
None
han_22_ASD/DD/ID_discovery_cases
Han Chinese
Array SNP
Affymetrix SNP 6.0, Affymetrix CytoScan HD
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)
levy_11_ASD_discovery_cases
aCGH
NimbleGen HD2
HMM
lionel_13_ASD/ADHD/DD/ID_discovery_cases
N/A
aCGH, array SNP, solid phase hybridization
Multiple platforms (Agilent, Affymetrix, Illumina)
None
maini_18_ASD/DD/ID_discovery_cases
Italian
aCGH, array SNP
Multiple platforms, including Agilent and Affymetrix arrays (8x60K oligochips since 2012)
None
morrow_08_ASD_discovery_cases
Arabic Middle East, Turkey, and Pakistan
Array SNP
Affymetrix 500K
BRLMM
dChip
mosca_16_DCD_discovery_cases
Canada
Solid phase hybridization
Illumina HumanOmni2.5-Quad BeadChip
iPattern, PennCNV, QuantiSNP, CNVPartition
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_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
rosenfeld_10_ASD_discovery_cases
aCGH
BACs aCGH, whole-genome oligo-aCGH
FISH
rosenfeld_10_non-ASD_discovery_cases
aCGH
BACs aCGH, whole-genome oligo-aCGH
FISH
sanders_11_ASD_discovery_cases
White non-Hispanic, 74.5%; mixed, 9.3%, Asian, 4.3%, White Hispanic, 4.0%, African-American, 3.8%; other, 4.2&
Solid phase hybridization
Illumina 1M v1, Illumina 1M v3
PennCNV, QuantiSNP, GNOSIS
schmitz-abe_20_ASD_discovery_cases
Middle Eastern
Array SNP
Affymetrix 6.0, Affymetrix 500K
qPCR
sebat_07_ASD_discovery_cases
ROMA
HMM
S-PLUS
390K ROMA, Agilent 244K, G-banded karyotyping, FISH, microsatellite
vaags_11_ASD_discovery_cases
Canadian
aCGH, array SNP, solid phase hybridization
Affymetrix 6.0, Illumina Infinium 1M, Illumina Omni 2.5M, Agilent 1M
None
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
wintle_10_ASD_discovery_cases
31 European, 2 East Asian, 1 African
Array SNP, solid phase hybridization
Affymetrix 6.0, Illumina Human 1M-duo
PennCNV, Birdsuite, iPattern
QuantiSNP, Affymetrix Genotyping Console
Solid phase hybridization
Controls
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
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
girirajan_13b_ASD_discovery_controls
116 European, 70 Hispanic, 27 Mixed Race, 7 Asian, 3 African-American
aCGH
Roche NimbleGen custom targeted hotspot array comprised of 135,000 probes with higher density probe coverage in genomic hotspots (regions flanked by segmental duplications)
DNA Copy Number v1.6
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
None
krumm_15_ASD_discovery_controls
N/A
WES
CoNIFER, XHMM
Solid phase hybridization (Illumina 1M, 1 M Duo, or Omni 2.5)
leppa_16_ASD_discovery_controls
N/A
Solid phase hybridization
Illumina 550v1 and 550v3, Omni-1.0-B and -H, Omni 2.5
PennCNV, QuantiSNP, GNOSIS
GenomeStudio, CNVision
None
levy_11_ASD_discovery_controls
aCGH
NimbleGen HD2
HMM
poultney_13_ASD_discovery_controls
European
WES
Agilent SureSelect Human All Exon v.2
XHMM
None
prasad_12_ASD_discovery_controls
NA
aCGH
Agilent 1M
ADM-2, DNAcopy (R Bioconductor)
DNA Analytics v4.0.85 (Agilent), DNAcopy
sanders_11_ASD_discovery_controls
Solid phase hybridization
Illumina 1M v1 or Illumina 1M v3
PennCNV, QuantiSNP, GNOSIS
sebat_07_ASD_discovery_controls
ROMA
HMM
S-PLUS
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
wintle_10_ASD_discovery_controls_2
99% European
N/A
N/A
N/A
N/A
Cases
Patient ID
Author, Year
Age
Gender
Primary Diagnosis
Clinical Profile
Cognitive Profile
CNV Start
CNV End
CNV Size
Genome Build
Type Method
Validation
brandler_18_ASD_replication_cases-case1-1004-003
N/A
M
ASD
Case from MSSNG cohort
17344542
17346356
1815
GRCh38
Deletion
No
bremer_11_ASD_discovery_cases-case22
8
F
ASD
Non-syndromic ASD, sporadic case
IQ>70
15357397
15487733
130337
GRCh38
Deletion
Yes
christian_08_ASD_discovery_cases-AU038603
NA
M
ASD
NA
NA
16848141
17448217
600077
GRCh38
Duplication
Yes
engchuan_15_ASD_discovery_cases-case1966_301
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
17832470
18324489
492020
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case3164_3
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
18444644
18484674
40031
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case4151_1
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
16978808
17399985
421178
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case4472_1
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
17355250
17595010
239761
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case5029_4
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
17485015
17526533
41519
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case5122_3
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
17862230
18186585
324356
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case5132_3
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
18210859
18256167
45309
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case6366_3
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
17019809
17403055
383247
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case8428_203
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
16833289
17134255
300967
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case8701_201
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
16915873
16950196
34324
GRCh38
Deletion
No
gai_11_ASD_discovery_cases-AU1631301
Autism
17798331
18311106
512776
Unknown
Duplication
No
gai_11_ASD_discovery_cases-AU1631303
Autism
17798331
18310248
511918
Unknown
Duplication
No
gai_11_ASD_replication_cases-AU038603
Autism
16882053
17381309
499257
Unknown
Duplication
No
gai_11_ASD_replication_cases-AU038604
Autism
16882053
17381309
499257
Unknown
Duplication
No
gai_11_ASD_replication_cases-AU044004
Autism
17032434
17409204
376771
Unknown
Duplication
No
gazzellone_14_ASD_discovery_cases-case520-3
N/A
M
ASD
ASD; no other clinical information provided
N/A
19940424
20058589
118166
GRCh38
Deletion
No
girirajan_13a_ASD_discovery_cases-AU044004
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
17023851
17403851
380001
GRCh38
Duplication
No
girirajan_13a_ASD_discovery_cases-AU1631301
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
17813852
18323852
510001
GRCh38
Duplication
No
girirajan_13b_ASD_discovery_cases-3407107669
N/A
N/A
Autism
Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Mixed Race
N/A
15808031
16214878
406848
GRCh38
Duplication
No
han_22_ASD/DD/ID_discovery_cases-case17D673
8 mos. 11 days
M
Developmental delay
18409813
18464311
54499
GRCh38
Deletion
No
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001687
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
16838053
17672667
834615
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001834
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
18931530
19221396
289867
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002742
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
18638299
18797297
158999
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00003876
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
17034713
17544671
509959
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004012
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
17183146
17612077
428932
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004250
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
17930595
18209019
278425
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004263
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
19054701
19321593
266893
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004314
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
19066144
19263328
197185
GRCh38
Duplication
Yes
krumm_13_ASD_discovery_cases-case11437.p1
N/A
M
ASD
ASD proband from SSC quad family 11437. SRS score of 75.
Full-scale IQ (FSIQ) score of 82.
19698315
19700280
1966
GRCh38
Deletion
No (not tested)
krumm_13_ASD_discovery_cases-case11696.p1
N/A
M
ASD
ASD proband from SSC quad family 11696. SRS score of 71.
Full-scale IQ (FSIQ) score of 95.
16799743
17343064
543322
GRCh38
Duplication
No (not tested)
krumm_13_ASD_discovery_cases-case14201.p1
N/A
M
ASD
ASD proband from SSC quad family 14201. SRS score of 90.
Full-scale IQ (FSIQ) score of 43.
16860499
16873843
13345
GRCh38
Deletion
No (not tested)
krumm_15_ASD_discovery_cases-case11696.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
16799743
17343064
543322
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_cases-case12998.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Trio
16873779
16878618
4840
GRCh38
Duplication
Yes
levy_11_ASD_discovery_cases-11696.p1
NA
M
ASD
NA
NA
16797882
17710481
912600
GRCh38
Duplication
No
lionel_13_ASD/ADHD/DD/ID_discovery_cases-case26
N/A
M
ADHD and anxiety disorder
Hyperactivity/ADHD, anxiety disorder, sleep disturbance. Family history: father has anxiety; deletion absent in brother with no reported phenotypes
Learning difficulties
15463242
15515787
52546
GRCh38
Deletion
No
maini_18_ASD/DD/ID_discovery_cases-case_unknown187
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)
16838053
17709162
871110
GRCh38
Duplication
No
morrow_08_ASD_discovery_cases-case5501
NA
ASD
NA
NA
16079000
16163000
84700
Unknown
Deletion
No
morrow_08_ASD_discovery_cases-case6301
NA
ASD
NA
NA
17459000
17507000
47900
Unknown
Deletion
No
mosca_16_DCD_discovery_cases-case116003
N/A
M
DCD/ADHD
Ancestry: European. Family history: maternal diagnosis unaffected; paternal diagnosis unaffected; sibling diagnosis unaffected.
16833609
16904742
71134
GRCh38
Deletion
No
o'roak_12_ASD_discovery_cases-case11696.p1
NA
M
ASD/Autism
Case also identified with de novo INCENP and HSPB2 missense mutations. No additional clinical info available.
High IQ. Non verbal IQ, 94
16799462
17794292
994831
GRCh38
Duplication
Yes
pinto_10_ASD_discovery_cases-case5029_4
NA
M
ASD
NA
NA
17485015
17526533
41519
GRCh38
Duplication
Yes
pinto_10_ASD_discovery_cases-case5122_3
NA
M
Autism
Below average language (<1%ile), seizures, small built, wasted thin extremities, protruding abdomen
Severe MR
17862230
18186585
324356
GRCh38
Duplication
Yes
pinto_10_ASD_discovery_cases-case5132_3
NA
M
ASD
NA
NA
18210859
18256167
45309
GRCh38
Deletion
Yes
poultney_13_ASD_discovery_cases-case04HI3312A
N/A
M
ASD
ASD case from AGRE (AGRE ID AU1342302; NDAR ID NDAR_INVVY673ZJL)
16860498
16878620
18123
GRCh38
Deletion
No
poultney_13_ASD_discovery_cases-case98HI0291A
N/A
M
ASD
ASD case from AGRE (AGRE ID AU038604; NDAR ID NDAR_INVEN731UAF)
16878508
17343066
464559
GRCh38
Duplication
No
poultney_13_ASD_discovery_cases-case98HI0555A
N/A
F
ASD
ASD case from AGRE (AGRE ID AU044004; NDAR ID NDAR_INVMU758BXY)
17309934
17343066
33133
GRCh38
Duplication
No
prasad_12_ASD_discovery_cases-case113501L
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
16866525
16883240
16716
Unknown
Deletion
No
prasad_12_ASD_discovery_cases-case125391
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
18904969
18912062
7094
Unknown
Deletion
No
prasad_12_ASD_discovery_cases-case154624L
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
16217298
16411009
193712
Unknown
Deletion
No
prasad_12_ASD_discovery_cases-case50002
NA
F
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
16057883
16078546
20664
Unknown
Deletion
No
prasad_12_ASD_discovery_cases-case59273L
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
17494179
17527642
33464
Unknown
Duplication
No
prasad_12_ASD_discovery_cases-case60380
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
18212229
18260838
48610
Unknown
Deletion
No
prasad_12_ASD_discovery_cases-case77405L
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
15368260
15391417
23158
Unknown
Deletion
No
prasad_12_ASD_discovery_cases-case99006
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
16805435
17715452
910018
Unknown
Duplication
No
rosenfeld_10_ASD_discovery_cases-case10422
NA
NA
ASD
NA
NA
17363604
19354792
1991188
Unknown
Deletion
Yes
rosenfeld_10_ASD_discovery_cases-case16698
NA
NA
ASD
NA
NA
17363604
17719683
356079
Unknown
Duplication
Yes
sanders_11_ASD_discovery_cases-11001.p1
7.8
M
Autism
NA
Full-scale IQ, 124; non-verbal IQ, 123; verbal IQ, 113
15524408
15530231
5824
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11079.p1
11.8
M
Autism
NA
Full-scale IQ, 53; non-verbal IQ, 48; verbal IQ, 63
16660485
16662091
1607
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11087.p1
6.1
M
Autism
NA
Full-scale IQ, 88; non-verbal IQ, 86; verbal IQ 99
16660485
16662091
1607
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11124.p1
11.1
M
Autism
NA
Full-scale IQ, 57; non-verbal IQ, 72; verbal IQ, 44
15529897
15530231
335
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11129.p1
4.7
F
Autism
NA
Full-scale IQ, 81; non-verbal IQ, 79; verbal IQ 91
16660485
16662091
1607
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11242.p1
5.8
M
Autism
NA
Full-scale IQ, 94; non-verbal IQ, 97; verbal IQ, 93
16660485
16662091
1607
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11266.p1
4.3
F
Autism
NA
Full-scale IQ, 71; non-verbal IQ, 73; verbal IQ, 78
17073357
17143827
70471
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11336.p1
10.4
M
Autism
NA
Full-scale IQ, 123; non-verbal IQ, 124; verbal IQ, 114
15529897
15530231
335
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11399.p1
11.9
M
ASD
NA
Full-scale IQ, 106; non-verbal IQ, 110; verbal IQ, 100
17513260
17527026
13767
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11445.p1
8.1
M
Autism
NA
Full-scale IQ, 90; non-verbal IQ, 90; verbal IQ, 67
15976879
15988373
11495
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11465.p1
11.4
M
Autism
NA
Full-scale IQ, 87; non-verbal IQ, 73; verbal IQ, 95
16660485
16662091
1607
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11497.p1
6.5
M
Autism
NA
Full-scale IQ, 105; non-verbal IQ, 102; verbal IQ, 109
16660485
16662091
1607
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11509.p1
16.8
M
Autism
NA
Full-scale IQ, 80; non-verbal IQ, 83; verbal IQ, 80
17366094
17452212
86119
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11617.p1
15.3
M
Autism
NA
Full-scale IQ, 35; non-verbal IQ, 39; verbal IQ, 27
16660485
16663242
2758
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11620.p1
16.5
M
ASD
NA
Full-scale IQ, 102; non-verbal IQ, 119; verbal IQ, 110
16660485
16662091
1607
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11665.p1
9.9
M
Autism
NA
Full-scale IQ, 72; non-verbal IQ, 79; verbal IQ, 65
16660485
16662091
1607
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
16660485
16662091
1607
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11696.p1
13.6
M
Autism
NA
Full-scale IQ, 95; non-verbal IQ, 94; verbal IQ, 98
16799462
17707031
907570
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11707.p1
13.5
M
Autism
NA
Full-scale IQ, 19; non-verbal IQ, 23; verbal IQ, 16
16660485
16662091
1607
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11792.p1
10.5
M
Autism
NA
Full-scale IQ, 107; non-verbal IQ, 100; verbal IQ, 119
15524408
15530231
5824
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11843.p1
14.3
F
Autism
NA
Full-scale IQ, 115; non-verbal IQ, 113; verbal IQ, 117
15524408
15530231
5824
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11920.p1
10.8
M
Aspergers
NA
Full-scale IQ, 96; non-verbal IQ, 91; verbal IQ, 106
16222746
16228368
5623
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11920.p1
10.8
M
Aspergers
NA
Full-scale IQ, 96; non-verbal IQ, 91; verbal IQ, 106
16230007
16230763
757
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11990.p1
11.4
M
Autism
NA
Full-scale IQ, 79; non-verbal IQ, 81; verbal IQ, 78
15524408
15530231
5824
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12066.p1
7.5
M
Autism
NA
Full-scale IQ, 121; non-verbal IQ, 131; verbal IQ, 95
15529897
15530231
335
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12078.p1
9.2
M
ASD
NA
Full-scale IQ, 106; non-verbal IQ, 102; verbal IQ, 113
15524408
15530231
5824
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12264.p1
8
M
Autism
NA
Full-scale IQ, 41; non-verbal IQ, 49; verbal IQ, 36
16222746
16272371
49626
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12279.p1
4.1
M
Autism
NA
Full-scale IQ, 61; non-verbal IQ, 64; verbal IQ, 58
16310505
16368446
57942
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12301.p1
13.9
M
Autism
NA
Full-scale IQ, 119; non-verbal IQ, 115; verbal IQ, 122
16660485
16662091
1607
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12414.p1
4.4
M
ASD
NA
Full-scale IQ, 116; non-verbal IQ, 129; verbal IQ, 90
17130298
17137665
7368
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12524.p1
6.4
F
Autism
NA
Full-scale IQ, 146; non-verbal IQ, 130; verbal IQ, 166
16346869
16356482
9614
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12606.p1
11.8
M
Autism
NA
Full-scale IQ, 59; non-verbal IQ, 59; verbal IQ, 62
16660485
16662091
1607
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12878.p1
6.1
M
Autism
NA
Full-scale IQ, 116; non-verbal IQ, 111; verbal IQ, 120
15406482
15411839
5358
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12921.p1
11.4
M
Autism
NA
Full-scale IQ, 80; non-verbal IQ, 74; verbal IQ, 100
17366094
17423247
57154
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12923.p1
4.4
M
Autism
NA
Full-scale IQ, 94; non-verbal IQ, 100; verbal IQ, 87
16660485
16662091
1607
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12948.p1
17.9
F
Autism
NA
Full-scale IQ, 65; non-verbal IQ, 57; verbal IQ, 81
17084317
17147155
62839
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12977.p1
8.2
F
Autism
NA
Full-scale IQ, 99; non-verbal IQ, 95; verbal IQ, 107
17355250
17587317
232068
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12998.p1
4.3
M
Autism
NA
Full-scale IQ, 109; non-verbal IQ, 116; verbal IQ, 93
16873933
16920425
46493
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-13060.p1
6.8
M
Autism
NA
Full-scale IQ, 86; non-verbal IQ, 81; verbal IQ, 98
16660485
16663242
2758
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-13193.p1
6.3
M
Autism
NA
Full-scale IQ, 81; non-verbal IQ, 86; verbal IQ, 81
16660485
16662091
1607
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-13382.p1
4.3
M
Autism
NA
Full-scale IQ, 76; non-verbal IQ, 74; verbal IQ, 83
15406482
15411839
5358
GRCh38
Deletion
No
schmitz-abe_20_ASD_discovery_cases-caseAU-19501
N/A
M
ASD
Proband born to consanguineous parents of Middle Eastern descent from the HMCA cohort. Homozygous deletion segregated with ASD in this family.
16860511
16875811
15301
GRCh38
Deletion
Yes
schmitz-abe_20_ASD_discovery_cases-caseAU-19503
N/A
M
ASD
Proband born to consanguineous parents of Middle Eastern descent from the HMCA cohort. Homozygous deletion segregated with ASD in this family.
16860511
16875811
15301
GRCh38
Deletion
Yes
schmitz-abe_20_ASD_discovery_cases-caseAU-22901
N/A
M
ASD
Proband born to consanguineous parents of Middle Eastern descent from the HMCA cohort. Homozygous deletion segregated with ASD in this family.
16860511
16875811
15301
GRCh38
Deletion
Yes
sebat_07_ASD_discovery_cases-AU072203
NA
M
Autism
NA
NA
15160118
15311998
151880
Unknown
Deletion
Yes
vaags_11_ASD_discovery_cases-probandF2-003
3 yrs. 5 mos.
M
Autism
Diagnosis of autism based on ADI-R and ADOS-1. Language: Oral and Written Language Scales/OWLS, incomplete; Peabody Picture Vocabulary Test/PPVT-4, SS = 67 (<1%). Adaptive Behavior (measured by VABS-II): adaptive behavior composite (ABC) = 61 (<1%), communication (COM) = 63 (1%), daily living skills (DLS) = 60 (<1%), socialization (SOC) = 59 (<1%), and motor skills (MOT) = 72 (3%). Born at 31 weeks, asthma, juvenile arthritis. Family history: proband was one of three trizygotic triplets; sister with autism & nonabsent seizures (has NRXN3 deletion).
Leiter-R IQ: incomplete (test attempted but proband failed to complete)
17513260
17527026
13767
GRCh38
Deletion
No
walker_13_ASD_discovery_cases-case1-0381-003
N/A
M
ASD
N/A
N/A
16798609
17705984
907376
GRCh38
Duplication
No
wintle_10_ASD_discovery_cases-AN17138
16
M
Autism
Autism
16309218
16364361
55144
GRCh38
Deletion
Yes
Controls
Patient ID
Author, Year
Age
Gender
Primary Diagnosis
Clinical Profile
Cognitive Profile
CNV Start
CNV End
CNV Size
Genome Build
Type Method
Validation
engchuan_15_ASD_discovery_controls-control110036003135_
N/A
N/A
Control
No previous psychiatric history
17375160
17427849
52690
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlB275079_1007852942
N/A
N/A
Control
No previous psychiatric history
17375160
17418454
43295
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlB277797_1007853793
N/A
N/A
Control
No previous psychiatric history
17072384
17137665
65282
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlB326599_1007854356
N/A
N/A
Control
No previous psychiatric history
19224881
19397801
172921
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlB365026_0067942628
N/A
N/A
Control
No previous psychiatric history
15395008
15533681
138674
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlB389867_1007872686
N/A
N/A
Control
No previous psychiatric history
17539614
17587317
47704
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlB479722_1007875261
N/A
N/A
Control
No previous psychiatric history
15463688
15533681
69994
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlB487470_1007873444
N/A
N/A
Control
No previous psychiatric history
17573723
17661268
87546
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlB697076_1007841045
N/A
N/A
Control
No previous psychiatric history
17375160
17418454
43295
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlB734764_1007873618
N/A
N/A
Control
No previous psychiatric history
19009539
19079965
70427
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlB953582_1007843997
N/A
N/A
Control
No previous psychiatric history
16528904
16608207
79304
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlB974175_1007875270
N/A
N/A
Control
No previous psychiatric history
16228368
16272432
44065
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlB985683_1007875312
N/A
N/A
Control
No previous psychiatric history
15554143
15864880
310738
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlB999332_1007870352
N/A
N/A
Control
No previous psychiatric history
17378188
17432002
53815
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlHABC_900358_900358
N/A
N/A
Control
No previous psychiatric history
17355250
17583601
228352
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlHABC_900528_900528
N/A
N/A
Control
No previous psychiatric history
16675349
16743142
67794
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlHABC_900617_900617
N/A
N/A
Control
No previous psychiatric history
17152648
17206464
53817
GRCh38
Deletion
No
krumm_13_ASD_discovery_controls-control11117.s1
N/A
F
Control
Unaffected sibling from SSC quad family 11117. SRS score of 41.
20140945
20160245
19301
GRCh38
Duplication
No (not tested)
krumm_15_ASD_discovery_controls-control12956.s1
N/A
Female
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
16776210
16779116
2907
GRCh38
Duplication
Yes
leppa_16_ASD_discovery_controls-AU038606
N/A
F
Control
Unaffected sibling
16878376
17375376
497001
GRCh38
Duplication
No
poultney_13_ASD_discovery_controls-control05C43337
N/A
M
Control
NIMH Control (NIMH ID 53939)
16878508
17343066
464559
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11030.s1
5.3
F
Control (matched sibling)
NA
NA
16660485
16662091
1607
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11114.s1
11.6
F
Control (matched sibling)
NA
NA
16660485
16662091
1607
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11233.s1
4.7
M
Control (matched sibling)
NA
NA
16660485
16662091
1607
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11242.s1
10.6
M
Control (matched sibling)
NA
NA
16660485
16662091
1607
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11266.s1
5.8
F
Control (matched sibling)
NA
NA
17073357
17143199
69843
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11399.s1
13.3
M
Control (matched sibling)
NA
NA
17518191
17527026
8836
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11400.s1
10.8
F
Control (matched sibling)
NA
NA
17518191
17533301
15111
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11445.s1
9.5
F
Control (matched sibling)
NA
NA
15974506
15988373
13868
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11473.s1
9.3
F
Control (matched sibling)
NA
NA
17502823
17573923
71101
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11509.s1
20.3
M
Control (matched sibling)
NA
NA
17366094
17452212
86119
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11511.s1
9
M
Control (matched sibling)
NA
NA
16660485
16662091
1607
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11620.s1
15.1
F
Control (matched sibling)
NA
NA
16660485
16662091
1607
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11711.s1
7
M
Control (matched sibling)
NA
NA
15404730
15406814
2085
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11766.s1
4.3
F
Control (matched sibling)
NA
NA
16660485
16662091
1607
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11797.s1
12.2
F
Control (matched sibling)
NA
NA
16660485
16662091
1607
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11868.s1
5.2
F
Control (matched sibling)
NA
NA
19423624
19428635
5012
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11916.s1
6.9
F
Control (matched sibling)
NA
NA
15524408
15530231
5824
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11919.s1
6.7
M
Control (matched sibling)
NA
NA
19423624
19428635
5012
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12106.s1
10.9
F
Control (matched sibling)
NA
NA
16660485
16662091
1607
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12121.s1
6.5
F
Control (matched sibling)
NA
NA
18105189
18105521
333
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12225.s1
16.4
M
Control (matched sibling)
NA
NA
19423624
19435860
12237
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12308.s1
9.6
M
Control (matched sibling)
NA
NA
16660485
16662091
1607
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12524.s1
4.4
F
Control (matched sibling)
NA
NA
16346869
16356482
9614
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12703.s1
15.3
F
Control (matched sibling)
NA
NA
16660485
16662091
1607
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12748.s1
4.2
M
Control (matched sibling)
NA
NA
15406482
15423982
17501
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12799.s1
9
M
Control (matched sibling)
NA
NA
17348769
17589927
241159
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-12832.s1
4.5
F
Control (matched sibling)
NA
NA
15529897
15530231
335
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12888.s1
10.5
F
Control (matched sibling)
NA
NA
17130298
17132557
2260
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12907.s1
9.8
F
Control (matched sibling)
NA
NA
15288777
15533681
244905
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12944.s1
4.8
M
Control (matched sibling)
NA
NA
17084317
17132557
48241
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-13053.s1
6.6
M
Control (matched sibling)
NA
NA
16660485
16662091
1607
GRCh38
Deletion
No
Cases
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
brandler_18_ASD_replication_cases-case1-1004-003
No validation step reported
Paternal
AHR
bremer_11_ASD_discovery_cases-case22
MLPA, FISH
Unknown (not maternal)
NA
NA
AGMO
christian_08_ASD_discovery_cases-AU038603
FISH, microsatellite
inherited
Simplex
NA
RAD17P1,BRWD1P3,AGR3,AHR,KCCAT333
engchuan_15_ASD_discovery_cases-case1966_301
Unknown
RNMTL1P2,PRPS1L1,MIR1302-6,SNX13,HDAC9
engchuan_15_ASD_discovery_cases-case3164_3
Unknown
HDAC9
engchuan_15_ASD_discovery_cases-case4151_1
Unknown
BRWD1P3,AHR,KCCAT333
engchuan_15_ASD_discovery_cases-case4472_1
Unknown
KCCAT333
engchuan_15_ASD_discovery_cases-case5029_4
Unknown
engchuan_15_ASD_discovery_cases-case5122_3
Unknown
RNMTL1P2,PRPS1L1,MIR1302-6,SNX13,HDAC9
engchuan_15_ASD_discovery_cases-case5132_3
Unknown
HDAC9
engchuan_15_ASD_discovery_cases-case6366_3
Unknown
BRWD1P3,AHR,KCCAT333
engchuan_15_ASD_discovery_cases-case8428_203
Unknown
RAD17P1,BRWD1P3,AGR2,AGR3,AHR
engchuan_15_ASD_discovery_cases-case8701_201
Unknown
AHR
gai_11_ASD_discovery_cases-AU1631301
Inherited
SNX13, PRPS1L1
gai_11_ASD_discovery_cases-AU1631303
Inherited
SNX13, PRPS1L1
gai_11_ASD_replication_cases-AU038603
Inherited
AGR3, AHR
gai_11_ASD_replication_cases-AU038604
Inherited
AGR3, AHR
gai_11_ASD_replication_cases-AU044004
Inherited
AHR
gazzellone_14_ASD_discovery_cases-case520-3
Unknown
Unknown
Unknown
RPL21P75
girirajan_13a_ASD_discovery_cases-AU044004
Unknown
Multiplex
Unknown
BRWD1P3,AHR,KCCAT333
girirajan_13a_ASD_discovery_cases-AU1631301
Unknown
Multiplex
Unknown
RNMTL1P2,PRPS1L1,MIR1302-6,SNX13,HDAC9
girirajan_13b_ASD_discovery_cases-3407107669
Unknown
Unknown
Unknown
RPL36AP29,ISPD,ISPD-AS1
han_22_ASD/DD/ID_discovery_cases-case17D673
Unknown
HDAC9
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001687
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Paternal
Unknown
Unknown
RAD17P1,BRWD1P3,AGR3,AHR,KCCAT333
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001834
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Maternal
Unknown
Unknown
NPM1P13,FERD3L,TWIST1,HDAC9
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002742
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Maternal
Unknown
Unknown
HDAC9
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00003876
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
AHR,KCCAT333
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004012
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Maternal
Unknown
Unknown
AHR,KCCAT333
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004250
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Maternal
Unknown
Unknown
RNMTL1P2,PRPS1L1,MIR1302-6,SNX13,HDAC9
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004263
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
FERD3L,TWIST1
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004314
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
FERD3L,TWIST1
krumm_13_ASD_discovery_cases-case11437.p1
Paternal
Simplex
Segregated
TWISTNB
krumm_13_ASD_discovery_cases-case11696.p1
Paternal
Simplex
Segregated
RAD17P1,BRWD1P3,AGR2,AGR3,AHR
krumm_13_ASD_discovery_cases-case14201.p1
Maternal
Simplex
Segregated
RAD17P1,AGR3
krumm_15_ASD_discovery_cases-case11696.p1
Illumina 1M
Paternal
Simplex
Segregated
RAD17P1,BRWD1P3,AGR2,AGR3,AHR
krumm_15_ASD_discovery_cases-case12998.p1
Illumina 1MDuo
Paternal
Simplex
Segregated
AGR3
levy_11_ASD_discovery_cases-11696.p1
Paternal
Simplex
Segregated
RAD17P1,BRWD1P3,AGR2,AGR3,AHR,KCCAT333
lionel_13_ASD/ADHD/DD/ID_discovery_cases-case26
Paternal
Unknown
Multi-generational
Unknown
AGMO
maini_18_ASD/DD/ID_discovery_cases-case_unknown187
Paternal
Unknown
Unknown
RAD17P1,BRWD1P3,AGR3,AHR,KCCAT333
morrow_08_ASD_discovery_cases-case5501
Unknown
NA
NA
3' end of SOSTDC1
morrow_08_ASD_discovery_cases-case6301
Maternal
NA
NA
3' end of SNX13
mosca_16_DCD_discovery_cases-case116003
Unknown
Simplex
Unknown
RAD17P1,AGR3
o'roak_12_ASD_discovery_cases-case11696.p1
aCGH, Sanger sequencing
Paternal
Simplex (quad)
Unknown
RAD17P1,BRWD1P3,AGR2,AGR3,AHR,KCCAT333,SNX13
pinto_10_ASD_discovery_cases-case5029_4
Agilent1M
paternal
NA
NA
pinto_10_ASD_discovery_cases-case5122_3
qPCR-Maternal
maternal
Multiplex
Not segregated
RNMTL1P2,PRPS1L1,MIR1302-6,SNX13,HDAC9
pinto_10_ASD_discovery_cases-case5132_3
Agilent1M
paternal
NA
NA
HDAC9
poultney_13_ASD_discovery_cases-case04HI3312A
Unknown
Unknown (likely multiplex/AGRE)
Unknown
RAD17P1,AGR3
poultney_13_ASD_discovery_cases-case98HI0291A
Unknown
Unknown (likely multiplex/AGRE)
Unknown
BRWD1P3,AGR3,AHR
poultney_13_ASD_discovery_cases-case98HI0555A
Unknown
Unknown (likely multiplex/AGRE)
Unknown
AHR
prasad_12_ASD_discovery_cases-case113501L
Unknown
Unknown
Unknown
AGR3
prasad_12_ASD_discovery_cases-case125391
Unknown
Unknown
Unknown
HDAC9
prasad_12_ASD_discovery_cases-case154624L
Unknown
Unknown
Unknown
ISPD
prasad_12_ASD_discovery_cases-case50002
Unknown
Unknown
Unknown
0 genes
prasad_12_ASD_discovery_cases-case59273L
Unknown
Unknown
Unknown
0 genes
prasad_12_ASD_discovery_cases-case60380
Unknown
Unknown
Unknown
HDAC9
prasad_12_ASD_discovery_cases-case77405L
Unknown
Unknown
Unknown
AGMO
prasad_12_ASD_discovery_cases-case99006
Unknown
Unknown
Unknown
AHR,AGR2,AGR3
rosenfeld_10_ASD_discovery_cases-case10422
FISH
De novo
Unknown
Unknown
SNX13,PRPS1L1,HDAC9,TWIST1,FERD3L
rosenfeld_10_ASD_discovery_cases-case16698
FISH
Maternal
Unknown
Unknown
0 genes
sanders_11_ASD_discovery_cases-11001.p1
Unknown
Simplex (trio)
NA
AGMO
sanders_11_ASD_discovery_cases-11079.p1
Maternal
Simplex (quad-proband matched)
Not segregated
BZW2
sanders_11_ASD_discovery_cases-11087.p1
Maternal
Simplex (trio)
NA
BZW2
sanders_11_ASD_discovery_cases-11124.p1
Both parents
Simplex (quad-proband matched)
Segregated
AGMO
sanders_11_ASD_discovery_cases-11129.p1
Maternal
Simplex (trio)
NA
BZW2
sanders_11_ASD_discovery_cases-11242.p1
Paternal
Simplex (quad-proband matched)
Not segregated
BZW2
sanders_11_ASD_discovery_cases-11266.p1
Maternal
Simplex (quad-proband matched)
Not segregated
AHR
sanders_11_ASD_discovery_cases-11336.p1
Maternal
Simplex (quad-proband matched)
Segregated
AGMO
sanders_11_ASD_discovery_cases-11399.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11445.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11465.p1
Maternal
Simplex (trio)
NA
BZW2
sanders_11_ASD_discovery_cases-11497.p1
Paternal
Simplex (quad-proband matched)
Not segregated
BZW2
sanders_11_ASD_discovery_cases-11509.p1
Paternal
Simplex (quad-proband matched)
Not segregated
KCCAT333
sanders_11_ASD_discovery_cases-11617.p1
Paternal
Simplex (trio)
NA
BZW2
sanders_11_ASD_discovery_cases-11620.p1
Maternal
Simplex (quad-proband matched)
Not segregated
BZW2
sanders_11_ASD_discovery_cases-11665.p1
Paternal
Simplex (quad-proband matched)
Not segregated
BZW2
sanders_11_ASD_discovery_cases-11679.p1
Maternal
Simplex (quad-proband matched)
Not segregated
BZW2
sanders_11_ASD_discovery_cases-11696.p1
Paternal
Simplex (quad-proband matched)
Not segregated
RAD17P1,BRWD1P3,AGR2,AGR3,AHR,KCCAT333
sanders_11_ASD_discovery_cases-11707.p1
Paternal
Simplex (quad-proband matched)
Not segregated
BZW2
sanders_11_ASD_discovery_cases-11792.p1
Both parents
Simplex (quad-proband matched)
Segregated
AGMO
sanders_11_ASD_discovery_cases-11843.p1
Both parents
Simplex (quad-proband matched)
Not segregated
AGMO
sanders_11_ASD_discovery_cases-11920.p1
Paternal
Simplex (quad-proband matched)
Not segregated
ISPD,ISPD-AS1
sanders_11_ASD_discovery_cases-11920.p1
Paternal
Simplex (quad-proband matched)
Not segregated
ISPD,ISPD-AS1
sanders_11_ASD_discovery_cases-11990.p1
Both parents
Simplex (quad-proband matched)
Not segregated
AGMO
sanders_11_ASD_discovery_cases-12066.p1
Both parents
Simplex (quad-proband unmatched)
Unknown
AGMO
sanders_11_ASD_discovery_cases-12078.p1
Both parents
Simplex (quad-proband matched)
Not segregated
AGMO
sanders_11_ASD_discovery_cases-12264.p1
Maternal
Simplex (trio)
NA
ISPD,ISPD-AS1
sanders_11_ASD_discovery_cases-12279.p1
Paternal
Simplex (quad-proband unmatched)
Unknown
ISPD
sanders_11_ASD_discovery_cases-12301.p1
Maternal
Simplex (quad-proband matched)
Not segregated
BZW2
sanders_11_ASD_discovery_cases-12414.p1
Paternal
Simplex (trio)
NA
AHR
sanders_11_ASD_discovery_cases-12524.p1
Maternal
Simplex (quad-proband matched)
Not segregated
ISPD
sanders_11_ASD_discovery_cases-12606.p1
Maternal
Simplex (trio)
NA
BZW2
sanders_11_ASD_discovery_cases-12878.p1
Maternal
Simplex (trio)
NA
AGMO
sanders_11_ASD_discovery_cases-12921.p1
Paternal
Simplex (quad-proband matched)
Not segregated
KCCAT333
sanders_11_ASD_discovery_cases-12923.p1
Maternal
Simplex (quad-proband matched)
Not segregated
BZW2
sanders_11_ASD_discovery_cases-12948.p1
Maternal
Simplex (trio)
NA
AHR
sanders_11_ASD_discovery_cases-12977.p1
Paternal
Simplex (quad-proband matched)
Not segregated
KCCAT333
sanders_11_ASD_discovery_cases-12998.p1
Paternal
Simplex (trio)
NA
AGR3,AHR
sanders_11_ASD_discovery_cases-13060.p1
Paternal
Simplex (trio)
NA
BZW2
sanders_11_ASD_discovery_cases-13193.p1
Maternal
Simplex (quad-proband matched)
Not segregated
BZW2
sanders_11_ASD_discovery_cases-13382.p1
Both parents
Simplex (trio)
NA
AGMO
schmitz-abe_20_ASD_discovery_cases-caseAU-19501
qPCR
Both parents
Multiplex
Segregated
RAD17P1,AGR3
schmitz-abe_20_ASD_discovery_cases-caseAU-19503
qPCR
Both parents
Multiplex
Segregated
RAD17P1,AGR3
schmitz-abe_20_ASD_discovery_cases-caseAU-22901
qPCR
Both parents
Simplex
Segregated
RAD17P1,AGR3
sebat_07_ASD_discovery_cases-AU072203
390K ROMA or Agilent 244K aCGH
De novo
Simplex
NA
AGMO
vaags_11_ASD_discovery_cases-probandF2-003
Unknown
Multiplex
Unknown
walker_13_ASD_discovery_cases-case1-0381-003
Unknown
Simplex
Unknown
RAD17P1,BRWD1P3,AGR2,AGR3,AHR,KCCAT333
wintle_10_ASD_discovery_cases-AN17138
Solid phase hybridization (Illumina Human 1M-duo)
Unknown
Unknown
Unknown
ISPD
Controls
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
engchuan_15_ASD_discovery_controls-control110036003135_
Unknown
KCCAT333
engchuan_15_ASD_discovery_controls-controlB275079_1007852942
Unknown
KCCAT333
engchuan_15_ASD_discovery_controls-controlB277797_1007853793
Unknown
AHR
engchuan_15_ASD_discovery_controls-controlB326599_1007854356
Unknown
engchuan_15_ASD_discovery_controls-controlB365026_0067942628
Unknown
AGMO
engchuan_15_ASD_discovery_controls-controlB389867_1007872686
Unknown
engchuan_15_ASD_discovery_controls-controlB479722_1007875261
Unknown
AGMO
engchuan_15_ASD_discovery_controls-controlB487470_1007873444
Unknown
engchuan_15_ASD_discovery_controls-controlB697076_1007841045
Unknown
KCCAT333
engchuan_15_ASD_discovery_controls-controlB734764_1007873618
Unknown
TWIST1
engchuan_15_ASD_discovery_controls-controlB953582_1007843997
Unknown
LRRC72,ANKMY2,SOSTDC1
engchuan_15_ASD_discovery_controls-controlB974175_1007875270
Unknown
ISPD,ISPD-AS1
engchuan_15_ASD_discovery_controls-controlB985683_1007875312
Unknown
LINC02587,RPL36AP26,MEOX2,AGMO
engchuan_15_ASD_discovery_controls-controlB999332_1007870352
Unknown
KCCAT333
engchuan_15_ASD_discovery_controls-controlHABC_900358_900358
Unknown
KCCAT333
engchuan_15_ASD_discovery_controls-controlHABC_900528_900528
Unknown
BZW2
engchuan_15_ASD_discovery_controls-controlHABC_900617_900617
Unknown
AHR
krumm_13_ASD_discovery_controls-control11117.s1
Maternal
Simplex
MACC1-AS1,MACC1
krumm_15_ASD_discovery_controls-control12956.s1
Illumina 1MDuo
Maternal
TSPAN13
leppa_16_ASD_discovery_controls-AU038606
Maternal
Multiplex
BRWD1P3,AGR3,AHR,KCCAT333
poultney_13_ASD_discovery_controls-control05C43337
Unknown
BRWD1P3,AGR3,AHR
sanders_11_ASD_discovery_controls-11030.s1
Maternal
Simplex (quad)
NA
BZW2
sanders_11_ASD_discovery_controls-11114.s1
Paternal
Simplex (quad)
NA
BZW2
sanders_11_ASD_discovery_controls-11233.s1
Maternal
Simplex (quad)
NA
BZW2
sanders_11_ASD_discovery_controls-11242.s1
Paternal
Simplex (quad)
NA
BZW2
sanders_11_ASD_discovery_controls-11266.s1
Maternal
Simplex (quad)
NA
AHR
sanders_11_ASD_discovery_controls-11399.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11400.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11445.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11473.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11509.s1
Paternal
Simplex (quad)
NA
KCCAT333
sanders_11_ASD_discovery_controls-11511.s1
Maternal
Simplex (quad)
NA
BZW2
sanders_11_ASD_discovery_controls-11620.s1
Maternal
Simplex (quad)
NA
BZW2
sanders_11_ASD_discovery_controls-11711.s1
Paternal
Simplex (quad)
NA
AGMO
sanders_11_ASD_discovery_controls-11766.s1
Paternal
Simplex (quad)
NA
BZW2
sanders_11_ASD_discovery_controls-11797.s1
Paternal
Simplex (quad)
NA
BZW2
sanders_11_ASD_discovery_controls-11868.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11916.s1
Both parents
Simplex (quad)
NA
AGMO
sanders_11_ASD_discovery_controls-11919.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12106.s1
Maternal
Simplex (quad)
NA
BZW2
sanders_11_ASD_discovery_controls-12121.s1
Both parents
Simplex (quad)
NA
HDAC9
sanders_11_ASD_discovery_controls-12225.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12308.s1
Maternal
Simplex (quad)
NA
BZW2
sanders_11_ASD_discovery_controls-12524.s1
Maternal
Simplex (quad)
NA
ISPD
sanders_11_ASD_discovery_controls-12703.s1
Paternal
Simplex (quad)
NA
BZW2
sanders_11_ASD_discovery_controls-12748.s1
Maternal
Simplex (quad)
NA
AGMO
sanders_11_ASD_discovery_controls-12799.s1
Paternal
Simplex (quad)
NA
KCCAT333
sanders_11_ASD_discovery_controls-12832.s1
Unknown
Simplex (quad)
NA
AGMO
sanders_11_ASD_discovery_controls-12888.s1
Paternal
Simplex (quad)
NA
AHR
sanders_11_ASD_discovery_controls-12907.s1
Paternal
Simplex (quad)
NA
AGMO
sanders_11_ASD_discovery_controls-12944.s1
Maternal
Simplex (quad)
NA
AHR
sanders_11_ASD_discovery_controls-13053.s1
Paternal
Simplex (quad)
NA
BZW2
No Animal Model Data Available