3q21.3CNV Type: Deletion-Duplication
Largest CNV size: 129081 bp
Statistics Box:
Number of Reports: 16
Number of Reports: 16
Summary Information
Summary statement in development
Additional Locus Information
References
Major Reports
Title
Author, Year
Report Class
CNV Type
Autism-specific copy number variants further implicate the phosphatidylinositol signaling pathway and the glutamatergic synapse in the etiology of ...
Duplication
Functional impact of global rare copy number variation in autism spectrum disorders.
Duplication
An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabili...
Duplication
Minor Reports
Title
Author, Year
Report Class
CNV Type
Rare structural variation of synapse and neurotransmission genes in autism.
Duplication
Multiple recurrent de novo CNVs, including duplications of the 7q11.23 Williams syndrome region, are strongly associated with autism.
Deletion-Duplication
Relative burden of large CNVs on a range of neurodevelopmental phenotypes.
Deletion
A discovery resource of rare copy number variations in individuals with autism spectrum disorder.
Deletion
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.
Deletion-Duplication
Copy number variation in Han Chinese individuals with autism spectrum disorder.
Duplication
Genome-wide analysis of copy number variations identifies PARK2 as a candidate gene for autism spectrum disorder.
Duplication
Copy-number variations are enriched for neurodevelopmental genes in children with developmental coordination disorder.
Deletion
De Novo Sequence and Copy Number Variants Are Strongly Associated with Tourette Disorder and Implicate Cell Polarity in Pathogenesis.
Duplication
Cases
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
cusco_09_ASD_discovery_cases
74 children followed in neurology clinic, 22 institutionalized mentally retarded adults with confirmed diagnosis of ASD
96
ASD
87.5% Male
129081
0
1
1
cusco_09_ASD_replication_cases
Replication cohort of ASD patients
215
ASD
129081
0
0
0
digregorio_17_DD/ID_discovery_cases
Consecutive cases examined in the Medical Genetics Unit at the "Citta della Salte e della Scienza" University Hospital (Turin, Italy) from 2008 to 2014 (cases with CNVs are present in DECIPHER database)
1015
Cases diagnosed with idiopathic developmental delay and/or intellectual disability (DD/ID)
N/A
N/A
214000
0
1
1
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
643366
0
1
1
gazzellone_14_ASD_discovery_cases
ASD-affected individuals referred to the Children Development and Behavior Research Center (CDRBC) at Harbin Medical University, China, between January 2007 and June 2011.
104
Diagnosis of ASD made using Autism Behavior Checklist (ABC) and Childhood Autism Rating Scale (CARS)
Mean age at enrollment, 4.31 1.80 yrs.
87.5% Male
26983
0
1
1
girirajan_11_ASD_discovery_cases
ASD cases with sporadic autism from the Simons Simplex Collection (SSC)
336
Diagnosis of ASD based on meeting criteria on ADOS, ADI-R, and expert clinical judgment. 246 cases with no intellectual disability, 90 cases with intellectual disability. Exclusion criteria: significant hearing, vision, or motor problems; significant birth complications; a diagnosis of ASD-related disorders, such as Fragile X; or having a relative (up to 3rd degree) with ASD or sibling showing ASD-related symptoms.
137984
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
636000
0
1
1
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
100757
1
1
2
kaminsky_11_DD/ID/ASD_discovery_cases
Cases from the International Standards for Cytogenomic Arrays (ISCA) consortium
15749
Unexplained developmental delay, intellectual disability, dysmorphic features, multiple congenital anomalies, autism spectrum disorders, or clinical features suggestive of a chromosomal syndrome
NA
NA
581514
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
7266
1
0
1
krumm_15_ASD_discovery_cases
Probands from the Simons Simplex Collection
2377
Diagnosis of ASD
N/A
N/A
7266
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
52707
1
0
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
92463
0
1
1
prasad_12_ASD_discovery_cases
Unrelated ASD cases recruited from three Canadian sites (Hospital for Sick Children, McMaster University, and Memorial University of Newfoundland); the majority of cases had been previously genotyped with results published in Marshall et al., 2008 and Pinto et al., 2010. 20 cases from initial cohort of 696 were excluded from further analysis (due to CNVs > 5 Mb).
676
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS
NA
82.84% Male
7681
2
0
2
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
59774
26
66
92
wang_18_TS_discovery_cases
Probands from 789 trio families (582 simplex trios, 103 multi-generational trios, and 104 trios with insufficient parental phenotypic data) from TIC Genetics, TAAICG, UTC, and TSGENESEE cohorts
789
Probands diagnosed with Tourette syndrome
N/A
80.57% Male
659136
0
1
1
yin_16_ASD_discovery_cases
Discovery cohort of ASD cases recruited from the Department of Psychiatry of National Taiwan University Hospital (NTUH), Chang Gung Memorial Hospital (CGMH), Taoyuan, and Taoyuan Mental Hospital (TMH), Taiwan.
335
Cases diagnosed with autistic disorder according to DSM-IV and confirmed by using the Chinese version of ADI-R. Cases' autistic behaviors assessed by Social Responsiveness Scale (SRS), and cognitive functions assessed by the Weschler Intelligence Scale for Children-Third Edition (WISC-III) and the Wisconsin Card Sorting Test (WCST).
Mean, 9.39 4.04 yrs.
89.3% Male
182491
0
2
2
Controls
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
cusco_09_ASD_discovery_controls
Control individuals matched for population ancestry
52
Control
51.9% Male
129081
0
0
0
cusco_09_ASD_replication_controls
Replication control cohort
120
Control
129081
0
0
0
girirajan_11_ASD_discovery_controls
Control individuals ascertained by NIMH Genetics Initiative. DNA samples from these individuals were obtained from the Rutgers Univ. Cell & DNA Repository.
337
Control. Individuals screened specifically for eight mental health disorders.
137984
0
0
0
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
127616
0
6
6
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
0
0
0
0
krumm_15_ASD_discovery_controls
Unaffected siblings from quad families from the Simons Simplex Collection
1786
Control
N/A
N/A
28479
0
1
1
nord_11_ASD_discovery_controls
Samples from 367 total control individuals (319 European American, 48 African American) used to test for differences in rare CNV prevalence compared with autism cases
123
Controls (no history of psychiatric symptoms by self-report)
30 yrs.
11799
1
0
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)
7681
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.
47920
17
49
66
yin_16_ASD_discovery_controls
Individuals from the Han Chinese Cell and Genome Bank (HCCGB) in Taiwan
1093
Controls
Mean, 68.07 10.12 yrs.
48.0% Male
182491
0
0
0
Cases
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
cusco_09_ASD_discovery_cases
Spanish
aCGH
BAC array containing 5442 large insert DNA fragments
PennCNV
CNV partition
MLPA, aCGH, array SNP
cusco_09_ASD_replication_cases
MLPA
MLPA panel containing probes targeting CNVs identified in discovery
digregorio_17_DD/ID_discovery_cases
Italian
aCGH
Agilent 60K (SurePrint G3 Human CGH Microarray 8x60K)
ADM-2
Agilent CGH Analytics software ver. 4.0.81
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_11_ASD_discovery_cases
aCGH
Custom microarray targeting 107 genomic hotspot regions (Roche NimbleGen Hotspot v1.0 array; 12 x 135K)
HMM
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
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)
mosca_16_DCD_discovery_cases
Canada
Solid phase hybridization
Illumina HumanOmni2.5-Quad BeadChip
iPattern, PennCNV, QuantiSNP, CNVPartition
None
pinto_10_ASD_discovery_cases
European
Solid phase hybridization
Illumina Infinium 1M SNP microarray
QuantiSNP, iPattern
qPCR, long-range PCR (LR-PCR), MLPA, FISH, aCGH (Agilent 1M), array SNP (Affymetrix 500K)
prasad_12_ASD_discovery_cases
Canada
aCGH
Agilent 1M
ADM-2, DNAcopy (R Bioconductor)
DNA Analytics v4.0.85 (Agilent), DNAcopy
None
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
wang_18_TS_discovery_cases
N/A
WES
Agilent SureSelect v1.1, Nimblegen EZ v2, Nimblegen EZ v3, IDT xGen
CoNIFER
None
yin_16_ASD_discovery_cases
Han Chinese
Array SNP
Affymetrix 6.0
Affymetrix Genotyping Console v.4.1
None
Controls
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
cusco_09_ASD_discovery_controls
Spanish
aCGH
BAC array containing 5442 large insert DNA fragments
cusco_09_ASD_replication_controls
MLPA
MLPA panel containing probes targeting CNVs identified in discovery
girirajan_11_ASD_discovery_controls
aCGH
Custom microarray targeting 107 genomic hotspot regions (Roche NimbleGen Hotspot v1.0 array; 12 x 135K)
HMM
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)
nord_11_ASD_discovery_controls
aCGH
NimbleGen HD2
Sliding-window algorithm, ~10 kb minumum size threshold
None
prasad_12_ASD_discovery_controls
NA
aCGH
Agilent 1M
ADM-2, DNAcopy (R Bioconductor)
DNA Analytics v4.0.85 (Agilent), DNAcopy
sanders_11_ASD_discovery_controls
Solid phase hybridization
Illumina 1M v1 or Illumina 1M v3
PennCNV, QuantiSNP, GNOSIS
yin_16_ASD_discovery_controls
Han Chinese
Array SNP
Affymetrix 6.0
Affymetrix Genotyping Console v.4.1
None
Cases
Patient ID
Author, Year
Age
Gender
Primary Diagnosis
Clinical Profile
Cognitive Profile
CNV Start
CNV End
CNV Size
Genome Build
Type Method
Validation
cusco_09_ASD_discovery_cases-AUT96
NA
M
Autism
Aggression, occasional self-injurious behavior
Severe MR
131845264
131974345
129081
Unknown
Duplication
Yes
digregorio_17_DD/ID_discovery_cases-DECIPHER_300047
N/A
M
Developmental delay/intellectual disability
126583272
126797479
214208
GRCh38
Duplication
No
gai_11_ASD_replication_cases-AU083503
Autism
129021102
129664467
643366
Unknown
Duplication
No
gazzellone_14_ASD_discovery_cases-case562-3
N/A
F
ASD
ASD; no other clinical information provided
N/A
128621904
128648887
26984
GRCh38
Duplication
No
girirajan_11_ASD_discovery_cases-Si323
15
M
Autism
ADOS score: 10. Vineland composite score: 56.
Moderate mental retardation/intellectual disability. Full-scale IQ, 48; Verbal IQ, 36; Non-verbal IQ, 61.
126959839
127097823
137985
GRCh38
Deletion
No
girirajan_13a_ASD_discovery_cases-AU083503
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
127818467
128458467
640001
GRCh38
Duplication
No
girirajan_13b_ASD_discovery_cases-36907108784
N/A
N/A
Autism
Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Hispanic
N/A
126989206
127042884
53679
GRCh38
Duplication
No
girirajan_13b_ASD_discovery_cases-57105104492
N/A
N/A
Autism
Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Caucasian
N/A
126951835
127052592
100758
GRCh38
Deletion
No
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000812
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
128601065
129182579
581515
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001982
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
128735053
128967179
232127
GRCh38
Duplication
Yes
krumm_13_ASD_discovery_cases-case13890.p1
N/A
F
ASD
ASD proband from SSC quad family 13890. SRS score of 82.
Full-scale IQ (FSIQ) score of 37.
129401592
129408858
7267
GRCh38
Deletion
No (not tested)
krumm_15_ASD_discovery_cases-case11689.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Trio
129401592
129408858
7267
GRCh38
Deletion
Yes
krumm_15_ASD_discovery_cases-case14278.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
129401592
129408858
7267
GRCh38
Deletion
Yes
mosca_16_DCD_discovery_cases-case119303
N/A
M
DCD (with or without ADHD and/or RD)
Ancestry: unknown. Family history: maternal diagnosis unknown; paternal diagnosis unknown.
126180095
126232801
52707
GRCh38
Deletion
No
pinto_10_ASD_discovery_cases-case5005_3
NA
M
ASD
NA
NA
129836640
129929102
92463
Unknown
Duplication
Yes
prasad_12_ASD_discovery_cases-case50280
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
130230617
130236743
6127
Unknown
Deletion
No
prasad_12_ASD_discovery_cases-case85276L
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
129912914
129920594
7681
Unknown
Deletion
No
sanders_11_ASD_discovery_cases-11027.p1
9.3
M
ASD
NA
Full-scale IQ, 83; non-verbal IQ, 84; verbal IQ, 86
128661938
128693874
31937
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11031.p1
13.8
M
Aspergers
NA
Full-scale IQ, 118; non-verbal IQ, 110; verbal IQ, 128
128661938
128690837
28900
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11037.p1
9.3
M
Autism
NA
Full-scale IQ, 83; non-verbal IQ, 86; verbal IQ, 83
128661938
128672946
11009
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11074.p1
9.2
M
Autism
NA
Full-scale IQ, 68; non-verbal IQ, 75; verbal IQ, 58
128661938
128693874
31937
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11075.p1
6.7
M
Autism
NA
Full-scale IQ, 39; non-verbal IQ, 54; verbal IQ, 24
128661938
128693874
31937
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11077.p1
12.2
M
Autism
NA
Full-scale IQ, 33; non-verbal IQ, 36; verbal IQ, 26
128661938
128690837
28900
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11079.p1
11.8
M
Autism
NA
Full-scale IQ, 53; non-verbal IQ, 48; verbal IQ, 63
128685426
128693874
8449
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11080.p1
5.1
F
ASD
NA
Full-scale IQ, 51; non-verbal IQ, 50; verbal IQ 66
128661938
128693181
31244
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11085.p1
10.4
M
Autism
NA
Full-scale IQ, 61; non-verbal IQ, 68; verbal IQ, 51
128661938
128693874
31937
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11108.p1
8.1
M
Autism
NA
Full-scale IQ, 104; non-verbal IQ, 114; verbal IQ, 85
128661938
128693874
31937
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11128.p1
11.4
M
Autism
NA
Full-scale IQ, 33; non-verbal IQ, 32; verbal IQ 35
128661938
128693874
31937
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11134.p1
13.6
M
Autism
NA
Full-scale IQ, 117; non-verbal IQ, 115; verbal IQ 116
128661938
128693181
31244
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11188.p1
15.5
M
Autism
NA
Full-scale IQ, 106; non-verbal IQ, 110; verbal IQ 99
128661938
128693181
31244
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11193.p1
7.5
M
Autism
NA
Full-scale IQ, 125; non-verbal IQ, 138; verbal IQ, 91
128645954
128672946
26993
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
128661938
128693181
31244
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11283.p1
12
M
Autism
NA
Full-scale IQ, 117; non-verbal IQ, 132; verbal IQ 84
128661938
128693181
31244
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11299.p1
6.4
M
Autism
NA
Full-scale IQ, 97; non-verbal IQ, 104; verbal IQ, 87
128661938
128672946
11009
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11322.p1
4.2
M
Autism
NA
Full-scale IQ, 117; non-verbal IQ, 115; verbal IQ 116
128661938
128693874
31937
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11343.p1
8.3
M
ASD
NA
Full-scale IQ, 87; non-verbal IQ, 90; verbal IQ 87
128661938
128693181
31244
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11349.p1
7
M
Autism
NA
Full-scale IQ, 66; non-verbal IQ, 80; verbal IQ, 50
128661938
128672946
11009
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11382.p1
6.4
M
Autism
NA
Full-scale IQ, 76; non-verbal IQ, 70; verbal IQ, 94
128661938
128693874
31937
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11400.p1
8.3
M
Autism
NA
Full-scale IQ, 111; non-verbal IQ, 114; verbal IQ, 103
128661938
128679887
17950
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11400.p1
8.3
M
Autism
NA
Full-scale IQ, 111; non-verbal IQ, 114; verbal IQ, 103
128835934
128856142
20209
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11424.p1
6.8
M
Autism
NA
Full-scale IQ, 92; non-verbal IQ, 97; verbal IQ, 90
128661938
128693874
31937
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11444.p1
16.3
F
Aspergers
NA
Full-scale IQ, 120; non-verbal IQ, 125; verbal IQ, 121
128661938
128672946
11009
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
128661938
128693874
31937
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11452.p1
8.5
M
Autism
NA
Full-scale IQ, 80; non-verbal IQ, 80; verbal IQ, 85
128645954
128700211
54258
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11499.p1
7
M
Autism
NA
Full-scale IQ, 133; non-verbal IQ, 139; verbal IQ, 108
128685426
128693874
8449
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11510.p1
8.3
M
Autism
NA
Full-scale IQ, 87; non-verbal IQ, 81; verbal IQ, 103
128661938
128672946
11009
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11537.p1
14.3
F
Autism
NA
Full-scale IQ, 64; non-verbal IQ, 66; verbal IQ, 63
128661938
128693874
31937
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11566.p1
7.6
M
Autism
NA
Full-scale IQ, 94; non-verbal IQ, 92; verbal IQ, 100
128661938
128693874
31937
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11587.p1
12.3
M
Autism
NA
Full-scale IQ, 127; non-verbal IQ, 111; verbal IQ, 144
128661938
128693874
31937
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11659.p1
6.4
F
Autism
NA
Full-scale IQ, 88; non-verbal IQ, 89; verbal IQ, 94
128661938
128693181
31244
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11681.p1
5.1
M
Autism
NA
Full-scale IQ, 81; non-verbal IQ, 84; verbal IQ, 85
128661938
128693181
31244
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11689.p1
13.8
M
Autism
NA
Full-scale IQ, 94; non-verbal IQ, 87; verbal IQ, 107
129401691
129408132
6442
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11720.p1
8
M
ASD
NA
Full-scale IQ, 68; non-verbal IQ, 82; verbal IQ, 51
128661938
128693181
31244
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11780.p1
4.3
M
Autism
NA
Full-scale IQ, 117; non-verbal IQ, 112; verbal IQ, 120
128661938
128693181
31244
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11798.p1
4.8
M
Autism
NA
Full-scale IQ, 114; non-verbal IQ, 111; verbal IQ, 113
128661938
128693181
31244
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11863.p1
5.3
M
Autism
NA
Full-scale IQ, 122; non-verbal IQ, 123; verbal IQ, 114
128864877
128879388
14512
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11869.p1
10.1
M
Autism
NA
Full-scale IQ, 98; non-verbal IQ, 104; verbal IQ, 86
128661938
128693181
31244
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11905.p1
11.2
M
Autism
NA
Full-scale IQ, 53; non-verbal IQ, 71; verbal IQ, 34
128661938
128693181
31244
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
128661938
128693181
31244
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11931.p1
6.6
M
Autism
NA
Full-scale IQ, 58; non-verbal IQ, 69; verbal IQ, 51
129408132
129418292
10161
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11946.p1
11
M
Autism
NA
Full-scale IQ, 52; non-verbal IQ, 59; verbal IQ, 37
128661938
128693181
31244
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11989.p1
9.6
M
Autism
NA
Full-scale IQ, 89; non-verbal IQ, 94; verbal IQ, 83
128661938
128693181
31244
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12009.p1
6.8
M
Autism
NA
Full-scale IQ, 78; non-verbal IQ, 87; verbal IQ, 69
129408132
129418292
10161
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12046.p1
12.6
M
Autism
NA
Full-scale IQ, 87; non-verbal IQ, 88; verbal IQ, 87
128661938
128679887
17950
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12070.p1
14.4
M
ASD
NA
Full-scale IQ, 77; non-verbal IQ, 77; verbal IQ, 82
128661938
128693181
31244
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12192.p1
6.9
M
Autism
NA
Full-scale IQ, 127; non-verbal IQ, 130; verbal IQ, 115
128661938
128693181
31244
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12197.p1
5.8
M
Autism
NA
Full-scale IQ, 101; non-verbal IQ, 100; verbal IQ, 103
128661938
128690837
28900
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12219.p1
7.2
M
Autism
NA
Full-scale IQ, 121; non-verbal IQ, 110; verbal IQ, 136
128661938
128693181
31244
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12227.p1
12.4
M
Autism
NA
Full-scale IQ, 137; non-verbal IQ, 146; verbal IQ, 106
128661938
128693181
31244
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12255.p1
4.1
M
Autism
NA
Full-scale IQ, 92; non-verbal IQ, 98; verbal IQ, 87
128661938
128693181
31244
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12272.p1
5.4
M
Autism
NA
Full-scale IQ, 70; non-verbal IQ, 79; verbal IQ, 62
128661938
128693181
31244
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12279.p1
4.1
M
Autism
NA
Full-scale IQ, 61; non-verbal IQ, 64; verbal IQ, 58
129408132
129418292
10161
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12320.p1
8.5
M
Autism
NA
Full-scale IQ, 104; non-verbal IQ, 107; verbal IQ, 100
128645954
128693181
47228
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12331.p1
12.3
M
Aspergers
NA
Full-scale IQ, 115; non-verbal IQ, 114; verbal IQ, 111
128661938
128693181
31244
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12337.p1
11.6
M
ASD
NA
Full-scale IQ, 121; non-verbal IQ, 112; verbal IQ, 131
128661938
128693181
31244
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12376.p1
12.2
M
Autism
NA
Full-scale IQ, 101; non-verbal IQ, 100; verbal IQ, 104
126609258
126669032
59775
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12381.p1
6.2
M
Autism
NA
Full-scale IQ, 65; non-verbal IQ, 64; verbal IQ, 79
128661938
128700211
38274
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12382.p1
10.1
M
Autism
NA
Full-scale IQ, 91; non-verbal IQ, 94; verbal IQ, 88
128661938
128693181
31244
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12395.p1
5.2
M
Autism
NA
Full-scale IQ, 85; non-verbal IQ, 91; verbal IQ, 81
129851358
129863247
11890
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12423.p1
10.1
M
Autism
NA
Full-scale IQ, 104; non-verbal IQ, 115; verbal IQ, 82
129408132
129421656
13525
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12437.p1
10.1
M
Autism
NA
Full-scale IQ, 75; non-verbal IQ, 78; verbal IQ, 72
128661938
128693181
31244
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12444.p1
9.5
F
Autism
NA
Full-scale IQ, 65; non-verbal IQ, 59; verbal IQ, 79
128661938
128693181
31244
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12457.p1
9.6
M
Autism
NA
Full-scale IQ, 99; non-verbal IQ, 97; verbal IQ, 103
128661938
128693181
31244
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12476.p1
8.1
M
Autism
NA
Full-scale IQ, 91; non-verbal IQ, 100; verbal IQ, 79
128661938
128693181
31244
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12477.p1
14.1
M
Autism
NA
Full-scale IQ, 28; non-verbal IQ, 28; verbal IQ, 27
128661938
128693181
31244
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12548.p1
11.9
M
Autism
NA
Full-scale IQ, 100; non-verbal IQ, 113; verbal IQ, 76
128661938
128693181
31244
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12561.p1
5.8
M
Autism
NA
Full-scale IQ, 102; non-verbal IQ, 101; verbal IQ, 103
128661938
128693181
31244
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12568.p1
14.6
M
Autism
NA
Full-scale IQ, 51; non-verbal IQ, 75; verbal IQ, 26
128661938
128679887
17950
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12572.p1
14.9
M
Autism
NA
Full-scale IQ, 38; non-verbal IQ, 49; verbal IQ, 31
129408132
129421656
13525
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12592.p1
8.2
M
Autism
NA
Full-scale IQ, 116; non-verbal IQ, 119; verbal IQ, 106
128661938
128679887
17950
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12595.p1
4
M
Autism
NA
Full-scale IQ, 119; non-verbal IQ, 122; verbal IQ, 108
128661938
128693181
31244
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12600.p1
7.9
M
Autism
NA
Full-scale IQ, 92; non-verbal IQ, 103; verbal IQ, 69
129408132
129418292
10161
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12610.p1
5.4
M
ASD
NA
Full-scale IQ, 86; non-verbal IQ, 99; verbal IQ, 71
129408132
129418292
10161
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12628.p1
11.2
M
Autism
NA
Full-scale IQ, 118; non-verbal IQ, 102; verbal IQ, 120
128661938
128693181
31244
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12634.p1
4.2
F
Autism
NA
Full-scale IQ, 69; non-verbal IQ, 75; verbal IQ, 63
128661938
128693181
31244
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12650.p1
6.4
M
Autism
NA
Full-scale IQ, 104; non-verbal IQ, 100; verbal IQ, 109
128661938
128693181
31244
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12653.p1
11
M
Autism
NA
Full-scale IQ, 77; non-verbal IQ, 69; verbal IQ, 97
128661938
128693181
31244
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12723.p1
6.7
M
Autism
NA
Full-scale IQ, 48; non-verbal IQ, 61; verbal IQ, 38
129408132
129418292
10161
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12739.p1
6.8
M
ASD
NA
Full-scale IQ, 98; non-verbal IQ, 112; verbal IQ, 77
128661938
128693181
31244
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12759.p1
8.8
M
Autism
NA
Full-scale IQ, 105; non-verbal IQ, 114; verbal IQ, 89
128661938
128679887
17950
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12817.p1
9.4
M
Autism
NA
Full-scale IQ, 36; non-verbal IQ, 34; verbal IQ, 37
128661938
128679887
17950
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12858.p1
4.2
F
Autism
NA
Full-scale IQ, 91; non-verbal IQ, 99; verbal IQ, 83
129408132
129421656
13525
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12951.p1
15.3
M
Autism
NA
Full-scale IQ, 57; non-verbal IQ, 64; verbal IQ, 44
128661938
128693181
31244
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12960.p1
6.6
M
Autism
NA
Full-scale IQ, 47; non-verbal IQ, 52; verbal IQ, 42
128661938
128693181
31244
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-13070.p1
8.9
M
Autism
NA
Full-scale IQ, 86; non-verbal IQ, 96; verbal IQ, 85
128661938
128679887
17950
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-13077.p1
11.4
M
Autism
NA
Full-scale IQ, 107; non-verbal IQ, 109; verbal IQ, 105
128661938
128693181
31244
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-13152.p1
7.3
M
Autism
NA
Full-scale IQ, 77; non-verbal IQ, 79; verbal IQ, 78
128645954
128693181
47228
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-13171.p1
7.9
F
Autism
NA
Full-scale IQ, 51; non-verbal IQ, 59; verbal IQ, 45
128661938
128693181
31244
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-13251.p1
7.7
F
Autism
NA
Full-scale IQ, 95; non-verbal IQ, 93; verbal IQ, 102
128661938
128693181
31244
GRCh38
Duplication
No
wang_18_TS_discovery_cases-case1061707585
N/A
N/A
Tourette syndrome
Tourette syndrome proband from phase 1 cohort; no additional clinical information available
126914629
127573764
659136
GRCh38
Duplication
No
yin_16_ASD_discovery_cases-case122
N/A
N/A
ASD
Cases diagnosed with autistic disorder according to DSM-IV and confirmed by using the Chinese version of ADI-R.
128502032
128648721
146690
GRCh38
Duplication
No
yin_16_ASD_discovery_cases-case123
N/A
N/A
ASD
Cases diagnosed with autistic disorder according to DSM-IV and confirmed by using the Chinese version of ADI-R.
128764457
128946947
182491
GRCh38
Duplication
No
Controls
Patient ID
Author, Year
Age
Gender
Primary Diagnosis
Clinical Profile
Cognitive Profile
CNV Start
CNV End
CNV Size
Genome Build
Type Method
Validation
girirajan_13b_ASD_discovery_controls-34108110389
N/A
N/A
Control
Ethnicity: Caucasian
N/A
126946575
127036472
89898
GRCh38
Duplication
No
girirajan_13b_ASD_discovery_controls-40804101794
N/A
N/A
Control
Ethnicity: Hispanic
N/A
129495556
129623172
127617
GRCh38
Duplication
No
girirajan_13b_ASD_discovery_controls-56305104466
N/A
N/A
Control
Ethnicity: Hispanic
N/A
126989206
127042446
53241
GRCh38
Duplication
No
girirajan_13b_ASD_discovery_controls-66705104892
N/A
N/A
Control
Ethnicity: Caucasian
N/A
126989206
127042884
53679
GRCh38
Duplication
No
girirajan_13b_ASD_discovery_controls-70005105416
N/A
N/A
Control
Ethnicity: Caucasian
N/A
127418955
127534081
115127
GRCh38
Duplication
No
girirajan_13b_ASD_discovery_controls-70005105416
N/A
N/A
Control
Ethnicity: Caucasian
N/A
126994559
127062892
68334
GRCh38
Duplication
No
krumm_15_ASD_discovery_controls-control13611.s1
N/A
Male
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
129130080
129158559
28480
GRCh38
Duplication
Yes
nord_11_ASD_discovery_controls-04C27213
Control
131442285
131454083
11799
Unknown
Deletion
sanders_11_ASD_discovery_controls-11027.s1
5.8
M
Control (matched sibling)
NA
NA
128661938
128690837
28900
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11031.s1
12
M
Control (matched sibling)
NA
NA
128661938
128693874
31937
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11057.s1
5.9
M
Control (matched sibling)
NA
NA
128661938
128693874
31937
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11074.s1
7.3
M
Control (matched sibling)
NA
NA
128661938
128690837
28900
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11077.s1
14.8
M
Control (matched sibling)
NA
NA
128654713
128690837
36125
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11234.s1
7.5
F
Control (matched sibling)
NA
NA
128661938
128693874
31937
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11266.s1
5.8
F
Control (matched sibling)
NA
NA
128661938
128693181
31244
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11296.s1
14
M
Control (matched sibling)
NA
NA
128661938
128672946
11009
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11299.s1
4.3
M
Control (matched sibling)
NA
NA
128661938
128685426
23489
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11327.s1
9.5
F
Control (matched sibling)
NA
NA
128685426
128693874
8449
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11345.s1
8
M
Control (matched sibling)
NA
NA
128661938
128690837
28900
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11349.s1
8.6
M
Control (matched sibling)
NA
NA
128661938
128672946
11009
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11365.s1
13.1
F
Control (matched sibling)
NA
NA
128661938
128693874
31937
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11424.s1
6.8
F
Control (matched sibling)
NA
NA
128645954
128693874
47921
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11435.s1
23.3
M
Control (matched sibling)
NA
NA
128661938
128693874
31937
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11444.s1
19.5
F
Control (matched sibling)
NA
NA
128661938
128672946
11009
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11445.s1
9.5
F
Control (matched sibling)
NA
NA
128661938
128700211
38274
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11473.s1
9.3
F
Control (matched sibling)
NA
NA
128661938
128693874
31937
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11480.s1
13.8
F
Control (matched sibling)
NA
NA
128661938
128693181
31244
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11510.s1
6.8
F
Control (matched sibling)
NA
NA
128661938
128672946
11009
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11523.s1
4.9
F
Control (matched sibling)
NA
NA
128661938
128693874
31937
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11587.s1
10.3
F
Control (matched sibling)
NA
NA
128661938
128693874
31937
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11659.s1
4.8
F
Control (matched sibling)
NA
NA
128661938
128690837
28900
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11715.s1
6.6
F
Control (matched sibling)
NA
NA
128661938
128693181
31244
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11720.s1
11.6
F
Control (matched sibling)
NA
NA
128661938
128693181
31244
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11721.s1
6.9
M
Control (matched sibling)
NA
NA
129408132
129418292
10161
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11798.s1
7.2
F
Control (matched sibling)
NA
NA
128661938
128693181
31244
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11863.s1
8
F
Control (matched sibling)
NA
NA
128864877
128879388
14512
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11909.s1
5.7
M
Control (matched sibling)
NA
NA
128661938
128693181
31244
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11911.s1
12
M
Control (matched sibling)
NA
NA
128661938
128679887
17950
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11920.s1
18.3
M
Control (matched sibling)
NA
NA
128661938
128693181
31244
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11935.s1
6.2
M
Control (matched sibling)
NA
NA
128661938
128693181
31244
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11946.s1
12.9
M
Control (matched sibling)
NA
NA
128661938
128693181
31244
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11948.s1
11.8
M
Control (matched sibling)
NA
NA
127406746
127419434
12689
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11979.s1
6.3
F
Control (matched sibling)
NA
NA
128661938
128690837
28900
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11981.s1
8.6
F
Control (matched sibling)
NA
NA
128661938
128693181
31244
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11989.s1
8.1
F
Control (matched sibling)
NA
NA
128661938
128693181
31244
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-12007.s1
10.9
M
Control (matched sibling)
NA
NA
128661938
128693181
31244
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-12227.s1
10.3
M
Control (matched sibling)
NA
NA
128661938
128693181
31244
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-12320.s1
23.3
F
Control (matched sibling)
NA
NA
128654713
128693181
38469
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-12329.s1
6.3
M
Control (matched sibling)
NA
NA
128661938
128693181
31244
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-12335.s1
4.7
F
Control (matched sibling)
NA
NA
128661938
128693181
31244
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-12337.s1
13.3
M
Control (matched sibling)
NA
NA
128661938
128693181
31244
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-12381.s1
7.5
F
Control (matched sibling)
NA
NA
128661938
128693181
31244
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-12396.s1
11.2
F
Control (matched sibling)
NA
NA
128662243
128693181
30939
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-12437.s1
14.1
M
Control (matched sibling)
NA
NA
128661938
128693181
31244
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-12449.s1
5.3
M
Control (matched sibling)
NA
NA
128661938
128702323
40386
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-12457.s1
5.6
M
Control (matched sibling)
NA
NA
128661938
128693181
31244
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-12510.s1
4.1
M
Control (matched sibling)
NA
NA
128661938
128679887
17950
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12561.s1
7.8
F
Control (matched sibling)
NA
NA
128661938
128693181
31244
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-12572.s1
6.6
F
Control (matched sibling)
NA
NA
129406388
129418292
11905
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12592.s1
10.1
F
Control (matched sibling)
NA
NA
128661938
128679887
17950
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12595.s1
10.4
M
Control (matched sibling)
NA
NA
128654713
128693181
38469
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-12596.s1
6.3
F
Control (matched sibling)
NA
NA
129408132
129418292
10161
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12628.s1
13.6
F
Control (matched sibling)
NA
NA
128661938
128693181
31244
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-12650.s1
4.7
F
Control (matched sibling)
NA
NA
128661938
128693181
31244
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-12723.s1
8.7
F
Control (matched sibling)
NA
NA
129406388
129418292
11905
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12735.s1
9.1
M
Control (matched sibling)
NA
NA
128661938
128693181
31244
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-12759.s1
5.8
F
Control (matched sibling)
NA
NA
128661938
128679887
17950
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12817.s1
15.7
F
Control (matched sibling)
NA
NA
128661938
128679887
17950
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12867.s1
18.8
M
Control (matched sibling)
NA
NA
128661938
128690837
28900
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-12956.s1
7.4
F
Control (matched sibling)
NA
NA
128661938
128693181
31244
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-13023.s1
8.8
M
Control (matched sibling)
NA
NA
128654713
128693181
38469
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-13070.s1
11.6
M
Control (matched sibling)
NA
NA
128661938
128679887
17950
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-13077.s1
13.9
M
Control (matched sibling)
NA
NA
128661938
128693181
31244
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-13171.s1
11.3
F
Control (matched sibling)
NA
NA
128661938
128693181
31244
GRCh38
Duplication
No
Cases
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
cusco_09_ASD_discovery_cases-AUT96
MLPA & aCGH (Agilent 44k or 244K)
Unknown
NA
NA
COL6A6, PIK3R4
digregorio_17_DD/ID_discovery_cases-DECIPHER_300047
Maternal
RCC2P4,NUP210P1,TXNRD3,CHCHD6
gai_11_ASD_replication_cases-AU083503
Inherited
MGLL, KLHDC6, SEC61A1, RUVBL1, EEFSEC, DNAJB8
gazzellone_14_ASD_discovery_cases-case562-3
Unknown
Unknown
Unknown
RPN1
girirajan_11_ASD_discovery_cases-Si323
Unknown
Simplex
PLXNA1,CHCHD6
girirajan_13a_ASD_discovery_cases-AU083503
Unknown
Multiplex
Unknown
RNA5SP139,RNU2-37P,RUVBL1-AS1,RNU6-823P,RUVBL1,SEC61A1,EEFSEC,MGLL,KBTBD12
girirajan_13b_ASD_discovery_cases-36907108784
Unknown
Unknown
Unknown
PLXNA1
girirajan_13b_ASD_discovery_cases-57105104492
Unknown
Unknown
Unknown
PLXNA1,CHCHD6
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000812
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Paternal
Unknown
Unknown
POU5F1P6,MARK2P8,FTH1P4,RN7SL698P,RPS15AP16,MARK3P3,MARK2P6,GP9,RPN1,RAB7A,ACAD9,EFCC1,ISY1,CNBP,MARK2P17,RAB43,ISY1-RAB43,KIAA1257
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001982
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Maternal
Unknown
Unknown
MARK2P8,FTH1P4,RN7SL698P,RPS15AP16,MARK3P3,MARK2P6,RAB7A,ACAD9,MARK2P17,KIAA1257
krumm_13_ASD_discovery_cases-case13890.p1
Maternal
Simplex
Segregated
EFCAB12
krumm_15_ASD_discovery_cases-case11689.p1
Illumina 1MDuo
Paternal
Simplex
Segregated
EFCAB12
krumm_15_ASD_discovery_cases-case14278.p1
Omni2.5-4v1
Paternal
Simplex
Not segregated (CNV in unaffected sibling)
EFCAB12
mosca_16_DCD_discovery_cases-case119303
Unknown
Unknown
Unknown
ALDH1L1,ALDH1L1-AS2
pinto_10_ASD_discovery_cases-case5005_3
Agilent1M
maternal
NA
NA
RPN1,RAB7A
prasad_12_ASD_discovery_cases-case50280
Unknown
Unknown
Unknown
CCDC48
prasad_12_ASD_discovery_cases-case85276L
Unknown
Unknown
Unknown
0 genes
sanders_11_ASD_discovery_cases-11027.p1
Maternal
Simplex (quad-proband matched)
Not segregated
POU5F1P6,RPN1
sanders_11_ASD_discovery_cases-11031.p1
Paternal
Simplex (quad-proband matched)
Not segregated
POU5F1P6,RPN1
sanders_11_ASD_discovery_cases-11037.p1
Paternal
Simplex (quad-proband matched)
Segregated
RPN1
sanders_11_ASD_discovery_cases-11074.p1
Maternal
Simplex (quad-proband matched)
Not segregated
POU5F1P6,RPN1
sanders_11_ASD_discovery_cases-11075.p1
Paternal
Simplex (quad-proband matched)
Not segregated
POU5F1P6,RPN1
sanders_11_ASD_discovery_cases-11077.p1
Paternal
Simplex (quad-proband matched)
Not segregated
POU5F1P6,RPN1
sanders_11_ASD_discovery_cases-11079.p1
Both parents
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11080.p1
Paternal
Simplex (trio)
NA
POU5F1P6,RPN1
sanders_11_ASD_discovery_cases-11085.p1
Maternal
Simplex (quad-proband matched)
Not segregated
POU5F1P6,RPN1
sanders_11_ASD_discovery_cases-11108.p1
Paternal
Simplex (quad-proband matched)
Not segregated
POU5F1P6,RPN1
sanders_11_ASD_discovery_cases-11128.p1
Maternal
Simplex (trio)
NA
POU5F1P6,RPN1
sanders_11_ASD_discovery_cases-11134.p1
Paternal
Simplex (trio)
NA
POU5F1P6,RPN1
sanders_11_ASD_discovery_cases-11188.p1
Maternal
Simplex (trio)
NA
POU5F1P6,RPN1
sanders_11_ASD_discovery_cases-11193.p1
Maternal
Simplex (quad-proband matched)
Segregated
RPN1
sanders_11_ASD_discovery_cases-11266.p1
Both parents
Simplex (quad-proband matched)
Not segregated
POU5F1P6,RPN1
sanders_11_ASD_discovery_cases-11283.p1
Paternal
Simplex (quad-proband unmatched)
Unknown
POU5F1P6,RPN1
sanders_11_ASD_discovery_cases-11299.p1
Paternal
Simplex (quad-proband matched)
Not segregated
RPN1
sanders_11_ASD_discovery_cases-11322.p1
Both parents
Simplex (trio)
NA
POU5F1P6,RPN1
sanders_11_ASD_discovery_cases-11343.p1
Maternal
Simplex (trio)
NA
POU5F1P6,RPN1
sanders_11_ASD_discovery_cases-11349.p1
Paternal
Simplex (quad-proband matched)
Not segregated
RPN1
sanders_11_ASD_discovery_cases-11382.p1
Maternal
Simplex (quad-proband matched)
Not segregated
POU5F1P6,RPN1
sanders_11_ASD_discovery_cases-11400.p1
Maternal
Simplex (quad-proband matched)
Not segregated
POU5F1P6,RPN1
sanders_11_ASD_discovery_cases-11400.p1
Maternal
Simplex (quad-proband matched)
Not segregated
MARK3P3,MARK2P6,MARK2P17
sanders_11_ASD_discovery_cases-11424.p1
Maternal
Simplex (quad-proband matched)
Not segregated
POU5F1P6,RPN1
sanders_11_ASD_discovery_cases-11444.p1
Paternal
Simplex (quad-proband matched)
Not segregated
RPN1
sanders_11_ASD_discovery_cases-11445.p1
Both parents
Simplex (quad-proband matched)
Not segregated
POU5F1P6,RPN1
sanders_11_ASD_discovery_cases-11452.p1
Maternal
Simplex (quad-proband matched)
Not segregated
POU5F1P6,RPN1
sanders_11_ASD_discovery_cases-11499.p1
Unknown
Simplex (quad-proband matched)
Segregated
sanders_11_ASD_discovery_cases-11510.p1
Paternal
Simplex (quad-proband matched)
Not segregated
RPN1
sanders_11_ASD_discovery_cases-11537.p1
Maternal
Simplex (quad-proband matched)
Not segregated
POU5F1P6,RPN1
sanders_11_ASD_discovery_cases-11566.p1
Maternal
Simplex (trio)
NA
POU5F1P6,RPN1
sanders_11_ASD_discovery_cases-11587.p1
Paternal
Simplex (quad-proband matched)
Not segregated
POU5F1P6,RPN1
sanders_11_ASD_discovery_cases-11659.p1
Paternal
Simplex (quad-proband matched)
Not segregated
POU5F1P6,RPN1
sanders_11_ASD_discovery_cases-11681.p1
Maternal
Simplex (trio)
NA
POU5F1P6,RPN1
sanders_11_ASD_discovery_cases-11689.p1
Paternal
Simplex (trio)
NA
EFCAB12
sanders_11_ASD_discovery_cases-11720.p1
Paternal
Simplex (quad-proband matched)
Not segregated
POU5F1P6,RPN1
sanders_11_ASD_discovery_cases-11780.p1
Paternal
Simplex (trio)
NA
POU5F1P6,RPN1
sanders_11_ASD_discovery_cases-11798.p1
Paternal
Simplex (quad-proband matched)
Not segregated
POU5F1P6,RPN1
sanders_11_ASD_discovery_cases-11863.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11869.p1
Paternal
Simplex (quad-proband matched)
Not segregated
POU5F1P6,RPN1
sanders_11_ASD_discovery_cases-11905.p1
Maternal
Simplex (quad-proband matched)
Not segregated
POU5F1P6,RPN1
sanders_11_ASD_discovery_cases-11920.p1
Both parents
Simplex (quad-proband matched)
Not segregated
POU5F1P6,RPN1
sanders_11_ASD_discovery_cases-11931.p1
Unknown
Simplex (trio)
NA
EFCAB12
sanders_11_ASD_discovery_cases-11946.p1
Maternal
Simplex (quad-proband matched)
Not segregated
POU5F1P6,RPN1
sanders_11_ASD_discovery_cases-11989.p1
Maternal
Simplex (quad-proband matched)
Not segregated
POU5F1P6,RPN1
sanders_11_ASD_discovery_cases-12009.p1
Unknown
Simplex (trio)
NA
EFCAB12
sanders_11_ASD_discovery_cases-12046.p1
Paternal
Simplex (trio)
NA
POU5F1P6,RPN1
sanders_11_ASD_discovery_cases-12070.p1
Paternal
Simplex (quad-proband unmatched)
Unknown
POU5F1P6,RPN1
sanders_11_ASD_discovery_cases-12192.p1
Maternal
Simplex (trio)
NA
POU5F1P6,RPN1
sanders_11_ASD_discovery_cases-12197.p1
Maternal
Simplex (quad-proband matched)
Not segregated
POU5F1P6,RPN1
sanders_11_ASD_discovery_cases-12219.p1
Paternal
Simplex (quad-proband matched)
Not segregated
POU5F1P6,RPN1
sanders_11_ASD_discovery_cases-12227.p1
Paternal
Simplex (quad-proband matched)
Not segregated
POU5F1P6,RPN1
sanders_11_ASD_discovery_cases-12255.p1
Paternal
Simplex (quad-proband matched)
Not segregated
POU5F1P6,RPN1
sanders_11_ASD_discovery_cases-12272.p1
Maternal
Simplex (quad-proband matched)
Not segregated
POU5F1P6,RPN1
sanders_11_ASD_discovery_cases-12279.p1
Unknown
Simplex (quad-proband unmatched)
Unknown
EFCAB12
sanders_11_ASD_discovery_cases-12320.p1
Paternal
Simplex (quad-proband matched)
Not segregated
POU5F1P6,RPN1
sanders_11_ASD_discovery_cases-12331.p1
Paternal
Simplex (quad-proband matched)
Not segregated
POU5F1P6,RPN1
sanders_11_ASD_discovery_cases-12337.p1
Paternal
Simplex (quad-proband matched)
Not segregated
POU5F1P6,RPN1
sanders_11_ASD_discovery_cases-12376.p1
Paternal
Simplex (quad-proband matched)
Not segregated
NUP210P1,TXNRD3
sanders_11_ASD_discovery_cases-12381.p1
Paternal
Simplex (quad-proband matched)
Not segregated
POU5F1P6,RPN1
sanders_11_ASD_discovery_cases-12382.p1
Paternal
Simplex (quad-proband matched)
Not segregated
POU5F1P6,RPN1
sanders_11_ASD_discovery_cases-12395.p1
Maternal
Simplex (trio)
NA
TMCC1
sanders_11_ASD_discovery_cases-12423.p1
Both parents
Simplex (quad-proband unmatched)
Unknown
EFCAB12
sanders_11_ASD_discovery_cases-12437.p1
Paternal
Simplex (quad-proband matched)
Not segregated
POU5F1P6,RPN1
sanders_11_ASD_discovery_cases-12444.p1
Maternal
Simplex (quad-proband matched)
Not segregated
POU5F1P6,RPN1
sanders_11_ASD_discovery_cases-12457.p1
Maternal
Simplex (quad-proband matched)
Not segregated
POU5F1P6,RPN1
sanders_11_ASD_discovery_cases-12476.p1
Paternal
Simplex (trio)
NA
POU5F1P6,RPN1
sanders_11_ASD_discovery_cases-12477.p1
Paternal
Simplex (trio)
NA
POU5F1P6,RPN1
sanders_11_ASD_discovery_cases-12548.p1
Paternal
Simplex (quad-proband matched)
Not segregated
POU5F1P6,RPN1
sanders_11_ASD_discovery_cases-12561.p1
Paternal
Simplex (quad-proband matched)
Not segregated
POU5F1P6,RPN1
sanders_11_ASD_discovery_cases-12568.p1
Maternal
Simplex (quad-proband matched)
Not segregated
POU5F1P6,RPN1
sanders_11_ASD_discovery_cases-12572.p1
Unknown
Simplex (quad-proband matched)
Not segregated
EFCAB12
sanders_11_ASD_discovery_cases-12592.p1
Paternal
Simplex (quad-proband matched)
Not segregated
POU5F1P6,RPN1
sanders_11_ASD_discovery_cases-12595.p1
Paternal
Simplex (quad-proband matched)
Not segregated
POU5F1P6,RPN1
sanders_11_ASD_discovery_cases-12600.p1
Unknown
Simplex (trio)
NA
EFCAB12
sanders_11_ASD_discovery_cases-12610.p1
Paternal
Simplex (quad-proband matched)
Not segregated
EFCAB12
sanders_11_ASD_discovery_cases-12628.p1
Both parents
Simplex (quad-proband matched)
Not segregated
POU5F1P6,RPN1
sanders_11_ASD_discovery_cases-12634.p1
Maternal
Simplex (trio)
NA
POU5F1P6,RPN1
sanders_11_ASD_discovery_cases-12650.p1
Maternal
Simplex (quad-proband matched)
Not segregated
POU5F1P6,RPN1
sanders_11_ASD_discovery_cases-12653.p1
Maternal
Simplex (quad-proband matched)
Not segregated
POU5F1P6,RPN1
sanders_11_ASD_discovery_cases-12723.p1
Both parents
Simplex (quad-proband matched)
Not segregated
EFCAB12
sanders_11_ASD_discovery_cases-12739.p1
Paternal
Simplex (quad-proband matched)
Not segregated
POU5F1P6,RPN1
sanders_11_ASD_discovery_cases-12759.p1
Maternal
Simplex (quad-proband matched)
Not segregated
POU5F1P6,RPN1
sanders_11_ASD_discovery_cases-12817.p1
Maternal
Simplex (quad-proband matched)
Not segregated
POU5F1P6,RPN1
sanders_11_ASD_discovery_cases-12858.p1
Unknown
Simplex (quad-proband matched)
Not segregated
EFCAB12
sanders_11_ASD_discovery_cases-12951.p1
Maternal
Simplex (quad-proband matched)
Not segregated
POU5F1P6,RPN1
sanders_11_ASD_discovery_cases-12960.p1
Maternal
Simplex (trio)
NA
POU5F1P6,RPN1
sanders_11_ASD_discovery_cases-13070.p1
Both parents
Simplex (quad-proband matched)
Not segregated
POU5F1P6,RPN1
sanders_11_ASD_discovery_cases-13077.p1
Paternal
Simplex (quad-proband matched)
Not segregated
POU5F1P6,RPN1
sanders_11_ASD_discovery_cases-13152.p1
Maternal
Simplex (quad-proband unmatched)
Unknown
POU5F1P6,RPN1
sanders_11_ASD_discovery_cases-13171.p1
Maternal
Simplex (quad-proband matched)
Not segregated
POU5F1P6,RPN1
sanders_11_ASD_discovery_cases-13251.p1
Maternal
Simplex (quad-proband matched)
Not segregated
POU5F1P6,RPN1
wang_18_TS_discovery_cases-case1061707585
CNV validation not attempted
De novo
C3orf56,RNU6-1047P,LINC02034,PRR20G,LINC02016,TPRA1,PLXNA1,LINC01471,CHCHD6
yin_16_ASD_discovery_cases-case122
Unknown
Unknown
Unknown
TMED10P2,LINC01565,GATA2-AS1,RPN1
yin_16_ASD_discovery_cases-case123
Unknown
Unknown
Unknown
FTH1P4,RN7SL698P,RPS15AP16,MARK3P3,MARK2P6,RAB7A,ACAD9,MARK2P17,KIAA1257
Controls
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
girirajan_13b_ASD_discovery_controls-34108110389
Unknown
PLXNA1,CHCHD6
girirajan_13b_ASD_discovery_controls-40804101794
Unknown
RN7SL752P,RHO,H1FOO,PLXND1,IFT122
girirajan_13b_ASD_discovery_controls-56305104466
Unknown
PLXNA1
girirajan_13b_ASD_discovery_controls-66705104892
Unknown
PLXNA1
girirajan_13b_ASD_discovery_controls-70005105416
Unknown
LINC01471
girirajan_13b_ASD_discovery_controls-70005105416
Unknown
PLXNA1
krumm_15_ASD_discovery_controls-control13611.s1
Omni2.5-4v1
Paternal
ISY1,ISY1-RAB43
nord_11_ASD_discovery_controls-04C27213
COL6A4P2
sanders_11_ASD_discovery_controls-11027.s1
Maternal
Simplex (quad)
NA
POU5F1P6,RPN1
sanders_11_ASD_discovery_controls-11031.s1
Paternal
Simplex (quad)
NA
POU5F1P6,RPN1
sanders_11_ASD_discovery_controls-11057.s1
Both parents
Simplex (quad)
NA
POU5F1P6,RPN1
sanders_11_ASD_discovery_controls-11074.s1
Maternal
Simplex (quad)
NA
POU5F1P6,RPN1
sanders_11_ASD_discovery_controls-11077.s1
Both parents
Simplex (quad)
NA
POU5F1P6,RPN1
sanders_11_ASD_discovery_controls-11234.s1
Maternal
Simplex (quad)
NA
POU5F1P6,RPN1
sanders_11_ASD_discovery_controls-11266.s1
Both parents
Simplex (quad)
NA
POU5F1P6,RPN1
sanders_11_ASD_discovery_controls-11296.s1
Maternal
Simplex (quad)
NA
RPN1
sanders_11_ASD_discovery_controls-11299.s1
Paternal
Simplex (quad)
NA
POU5F1P6,RPN1
sanders_11_ASD_discovery_controls-11327.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11345.s1
Paternal
Simplex (quad)
NA
POU5F1P6,RPN1
sanders_11_ASD_discovery_controls-11349.s1
Paternal
Simplex (quad)
NA
RPN1
sanders_11_ASD_discovery_controls-11365.s1
Maternal
Simplex (quad)
NA
POU5F1P6,RPN1
sanders_11_ASD_discovery_controls-11424.s1
Maternal
Simplex (quad)
NA
POU5F1P6,RPN1
sanders_11_ASD_discovery_controls-11435.s1
Paternal
Simplex (quad)
NA
POU5F1P6,RPN1
sanders_11_ASD_discovery_controls-11444.s1
Paternal
Simplex (quad)
NA
RPN1
sanders_11_ASD_discovery_controls-11445.s1
Both parents
Simplex (quad)
NA
POU5F1P6,RPN1
sanders_11_ASD_discovery_controls-11473.s1
Both parents
Simplex (quad)
NA
POU5F1P6,RPN1
sanders_11_ASD_discovery_controls-11480.s1
Maternal
Simplex (quad)
NA
POU5F1P6,RPN1
sanders_11_ASD_discovery_controls-11510.s1
Paternal
Simplex (quad)
NA
RPN1
sanders_11_ASD_discovery_controls-11523.s1
Maternal
Simplex (quad)
NA
POU5F1P6,RPN1
sanders_11_ASD_discovery_controls-11587.s1
Paternal
Simplex (quad)
NA
POU5F1P6,RPN1
sanders_11_ASD_discovery_controls-11659.s1
Paternal
Simplex (quad)
NA
POU5F1P6,RPN1
sanders_11_ASD_discovery_controls-11715.s1
Paternal
Simplex (quad)
NA
POU5F1P6,RPN1
sanders_11_ASD_discovery_controls-11720.s1
Paternal
Simplex (quad)
NA
POU5F1P6,RPN1
sanders_11_ASD_discovery_controls-11721.s1
Unknown
Simplex (quad)
NA
EFCAB12
sanders_11_ASD_discovery_controls-11798.s1
Paternal
Simplex (quad)
NA
POU5F1P6,RPN1
sanders_11_ASD_discovery_controls-11863.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11909.s1
Maternal
Simplex (quad)
NA
POU5F1P6,RPN1
sanders_11_ASD_discovery_controls-11911.s1
Maternal
Simplex (quad)
NA
POU5F1P6,RPN1
sanders_11_ASD_discovery_controls-11920.s1
Both parents
Simplex (quad)
NA
POU5F1P6,RPN1
sanders_11_ASD_discovery_controls-11935.s1
Maternal
Simplex (quad)
NA
POU5F1P6,RPN1
sanders_11_ASD_discovery_controls-11946.s1
Maternal
Simplex (quad)
NA
POU5F1P6,RPN1
sanders_11_ASD_discovery_controls-11948.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11979.s1
Maternal
Simplex (quad)
NA
POU5F1P6,RPN1
sanders_11_ASD_discovery_controls-11981.s1
Maternal
Simplex (quad)
NA
POU5F1P6,RPN1
sanders_11_ASD_discovery_controls-11989.s1
Maternal
Simplex (quad)
NA
POU5F1P6,RPN1
sanders_11_ASD_discovery_controls-12007.s1
Paternal
Simplex (quad)
NA
POU5F1P6,RPN1
sanders_11_ASD_discovery_controls-12227.s1
Paternal
Simplex (quad)
NA
POU5F1P6,RPN1
sanders_11_ASD_discovery_controls-12320.s1
Paternal
Simplex (quad)
NA
POU5F1P6,RPN1
sanders_11_ASD_discovery_controls-12329.s1
Paternal
Simplex (quad)
NA
POU5F1P6,RPN1
sanders_11_ASD_discovery_controls-12335.s1
Maternal
Simplex (quad)
NA
POU5F1P6,RPN1
sanders_11_ASD_discovery_controls-12337.s1
Paternal
Simplex (quad)
NA
POU5F1P6,RPN1
sanders_11_ASD_discovery_controls-12381.s1
Paternal
Simplex (quad)
NA
POU5F1P6,RPN1
sanders_11_ASD_discovery_controls-12396.s1
Both parents
Simplex (quad)
NA
POU5F1P6,RPN1
sanders_11_ASD_discovery_controls-12437.s1
Paternal
Simplex (quad)
NA
POU5F1P6,RPN1
sanders_11_ASD_discovery_controls-12449.s1
Paternal
Simplex (quad)
NA
POU5F1P6,RPN1
sanders_11_ASD_discovery_controls-12457.s1
Maternal
Simplex (quad)
NA
POU5F1P6,RPN1
sanders_11_ASD_discovery_controls-12510.s1
Maternal
Simplex (quad)
NA
POU5F1P6,RPN1
sanders_11_ASD_discovery_controls-12561.s1
Paternal
Simplex (quad)
NA
POU5F1P6,RPN1
sanders_11_ASD_discovery_controls-12572.s1
Unknown
Simplex (quad)
NA
EFCAB12
sanders_11_ASD_discovery_controls-12592.s1
Paternal
Simplex (quad)
NA
POU5F1P6,RPN1
sanders_11_ASD_discovery_controls-12595.s1
Paternal
Simplex (quad)
NA
POU5F1P6,RPN1
sanders_11_ASD_discovery_controls-12596.s1
Unknown
Simplex (quad)
NA
EFCAB12
sanders_11_ASD_discovery_controls-12628.s1
Both parents
Simplex (quad)
NA
POU5F1P6,RPN1
sanders_11_ASD_discovery_controls-12650.s1
Maternal
Simplex (quad)
NA
POU5F1P6,RPN1
sanders_11_ASD_discovery_controls-12723.s1
Both parents
Simplex (quad)
NA
EFCAB12
sanders_11_ASD_discovery_controls-12735.s1
Maternal
Simplex (quad)
NA
POU5F1P6,RPN1
sanders_11_ASD_discovery_controls-12759.s1
Maternal
Simplex (quad)
NA
POU5F1P6,RPN1
sanders_11_ASD_discovery_controls-12817.s1
Maternal
Simplex (quad)
NA
POU5F1P6,RPN1
sanders_11_ASD_discovery_controls-12867.s1
Maternal
Simplex (quad)
NA
POU5F1P6,RPN1
sanders_11_ASD_discovery_controls-12956.s1
Maternal
Simplex (quad)
NA
POU5F1P6,RPN1
sanders_11_ASD_discovery_controls-13023.s1
Maternal
Simplex (quad)
NA
POU5F1P6,RPN1
sanders_11_ASD_discovery_controls-13070.s1
Both parents
Simplex (quad)
NA
POU5F1P6,RPN1
sanders_11_ASD_discovery_controls-13077.s1
Paternal
Simplex (quad)
NA
POU5F1P6,RPN1
sanders_11_ASD_discovery_controls-13171.s1
Maternal
Simplex (quad)
NA
POU5F1P6,RPN1
No Animal Model Data Available