1q41CNV Type: Deletion-Duplication
Largest CNV size: 99982 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 ...
Deletion
An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabili...
Deletion-Duplication
Excess of rare, inherited truncating mutations in autism.
Deletion-Duplication
Detection of clinically relevant copy-number variants by exome sequencing in a large cohort of genetic disorders.
Deletion
Targeted resequencing of 358 candidate genes for autism spectrum disorder in a Chinese cohort reveals diagnostic potential and genotype-phenotype c...
Duplication
Cross-Disorder Analysis of Genic and Regulatory Copy Number Variations in Bipolar Disorder
Deletion
Minor Reports
Title
Author, Year
Report Class
CNV Type
Multiple recurrent de novo CNVs, including duplications of the 7q11.23 Williams syndrome region, are strongly associated with autism.
Deletion-Duplication
Use of array CGH to detect exonic copy number variants throughout the genome in autism families detects a novel deletion in TMLHE.
Deletion-Duplication
A discovery resource of rare copy number variations in individuals with autism spectrum disorder.
Duplication
Transmission disequilibrium of small CNVs in simplex autism.
Duplication
Identification of small exonic CNV from whole-exome sequence data and application to autism spectrum disorder.
Deletion-Duplication
Identification of risk genes for autism spectrum disorder through copy number variation analysis in Austrian families.
Duplication
Large-scale discovery of novel genetic causes of developmental disorders.
Duplication
Performance of case-control rare copy number variation annotation in classification of autism.
Deletion-Duplication
The complex behavioral phenotype of 15q13.3 microdeletion syndrome.
Deletion
Copy number variation analysis of patients with intellectual disability from North-West Spain.
Deletion-Duplication
Cases
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
celestino-soper_11_ASD_discovery_cases
ASD probands from Simons Simplex Collection (SSC) trios. 90 of the probands in this study were also used in the Sanders et al. 2011 CNV report.
99
ASD
87.88% Male
9514
2
2
4
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
99982
1
0
1
cusco_09_ASD_replication_cases
Replication cohort of ASD patients
215
ASD
99982
0
0
0
egger_14_ASD_discovery_cases
ASD probands from Austria (71 simplex, 2 multiplex) recruited from the catchment area of Styria using three recruitment sites (Institute of Human Genetics, Medical University of Graz, Club Libelle, Center for Autism, Styria, and Children's Hospital, University Hospital Graz).
73
Diagnosis of ASD made using ADOS and ADI-R according to DSM-IV or DSM-V categories
N/A
80.82% Male
25154
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
413441
3
4
7
fitzgerald_14_ASD/DD/ID_discovery_cases
Children recruited through all 24 regional genetics services of the UK National Health Service and Republic of Ireland as part of the Deciphering Developmental Disorders Study
1133
Cases affected by severe, undiagnosed developmental disorders; most common phenotypes include developmental delay, intellectual disability, specific learning disability, autism, seizures, microcephaly, and dysmorphic features.
Median age, 5.5 years
N/A
157037
0
1
1
kaminsky_11_DD/ID/ASD_discovery_cases
Cases from the International Standards for Cytogenomic Arrays (ISCA) consortium
15749
Unexplained developmental delay, intellectual disability, dysmorphic features, multiple congenital anomalies, autism spectrum disorders, or clinical features suggestive of a chromosomal syndrome
NA
NA
6797307
5
1
6
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
11657
0
1
1
krumm_15_ASD_discovery_cases
Probands from the Simons Simplex Collection
2377
Diagnosis of ASD
N/A
N/A
26955
1
1
2
kushima_22_SCZ_discovery_cases
Japanese schizophrenia probands evaluated for copy number variation from an initial cohort of 3,111 probands before quality control.
3014
Cases diagnosed with schizophrenia (SCZ) according to DSM-5 criteria.
Median age, 45 yrs.
53.5% Male
4331513
1
0
1
pfundt_16_nonNDD_discovery_cases
Subset of a cohort of 2,603 patients affected by genetic disorders for which exome seqeuncing was performed in a diagnostic setting
1430
Craniofacial anomalies (n=31), disorders of sexual development (n=38), immunodeficiency (n=24), metabolic disorders (n=34), hereditary cancer (n=74), renal disorders (n=56), complex phenotypes (n=183), mitochondrial disorders (n=142), muscle disorders (n=171), deafness (n=223), movement disorders (n=217), or blindness (n=237)
N/A
N/A
87823
1
0
1
poultney_13_ASD_discovery_cases
ASD cases of European ancestry from AGRE retained after filtering (original cohort size of 432 cases)
299
Cases diagnosed with ASD
N/A
79.86% Male (before filtering)
11661
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
48890
0
1
1
quintela_17_DD/ID_discovery_cases
Galician (NW Spain) patients recruited from the Complexo Hospitalario Universitario de Santiago de Compostela and referred to the Fundacion Publica Galega de Medicina Xenomica for genetic study
573
All participants had a clinical diagnosis of idiopathic intellectual disability (ID) or global developmental delay (DD) with or without another medical condition [e.g. autism spectrum disorder (ASD), attention deficit hyperactivity disorder (ADHD), epilepsy, dysmorphic features, and/or congenital anomalies]
Range, 3 months-18 years
60.38% Male
2507991
1
1
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
75315
13
5
18
zhou_19_ASD_discovery_cases
ASD probands from families recruited from training centers in Beijing and Tsingdao, China
539
Cases were diagnosed for ASD by ADI-R and ADOS
4.92 1.20 years
87.38% Male
32000
0
1
1
ziats_16_DD/ID/ADHD/ASD_discovery_cases
Patients with 15q13.3 microdeletions spanning at least BP4-BP5 identified retrospectively by review of CMA results performed in the Baylor Medical Genetics Laboratory or Signature Genomics Laboratories (prior to its closure in 2014).
18
Original reasons for referral of cases included developmental delay (DD; n=5), intellectual disability (ID; n=9), ADHD (n=4), ASD (n=3), and depression (n=2). Cognitive and behavioral testing involved usage of the Differential Ability Scales-II; the Autism Diagnostic Interview-Revised (ADI-R); the Autism Diagnostic Observation Schedule, Second Edition (ADOS-2); the Adaptive Behavior Assessment System, Second Edition (ABAS-II); and the Behavioral Assessment for Children, Second Edition (BASC-2).
Mean age, 14.0 yrs.
77.78% Male
757152
1
0
1
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
99982
0
0
0
cusco_09_ASD_replication_controls
Replication control cohort
120
Control
99982
0
0
0
egger_14_ASD_discovery_controls
CNV data from POPGEN (n=1,123) and the Ottawa Heart Institute (n=1,234)
2357
Control
N/A
N/A
0
0
0
0
engchuan_15_ASD_discovery_controls
Platform-matched controls from three large studies: SAGE (Study of Addiction Genetics and Environment), Ontario Colorectal Cancer study, and HABC (Health Aging and Body Composition)
2342
Controls; subjects had no previous psychiatric history
N/A
46.67% Male
314283
5
4
9
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
kanduri_15_ASD_discovery_controls
Unrelated Finnish samples from the cohort of Health 2000 survey from an initial sample of 288 individuals following quality control
269
Controls screened for DSM-IV mental disorders using the Composite International Diagnostic Interview and psychotic disorders using the research version of the Structured Clinical Interview for DSM-IV
N/A
N/A
7092
1
1
2
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
11657
0
1
1
krumm_15_ASD_discovery_controls
Unaffected siblings from quad families from the Simons Simplex Collection
1786
Control
N/A
N/A
0
0
0
0
kushima_22_ASD/BPD/SCZ_discovery_controls
Psychiatrically normal control individuals selected from the general population evaluated for copy number variation from an initial cohort of 2,713 control individuals before quality control.
2671
Controls were psychiatrically normal and had no history of mental disorders based on responses to questionnaires or self-reporting.
Median age, 36 yrs.
47.8% Male
0
0
0
0
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.
53055
0
1
1
poultney_13_ASD_discovery_controls
Controls matched for European ancestry from NIMH and CEPH retained after filtering (original cohort size of 379 controls)
260
Control
N/A
47.49% Male (before filtering)
319772
1
2
3
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)
48890
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.
29168
7
4
11
zhou_19_ASD_discovery_controls
Samples from blood donors at donation stations in Beijing, China (note: CNVs identified in controls not reported in this study)
512
Controls were screened for ASD by AQ measurement (score < 32) and self-reported to be negative for personal or family history of neurological disorders or psychiatric illness related to ASD and adverse pregnancy history
29.77 9.12 years
76.17% Male
N/A
N/A
N/A
N/A
Cases
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
celestino-soper_11_ASD_discovery_cases
aCGH
Agilent 1M
ADM-2
Agilent Feature Extraction v10.7.3.1, Agilent DNA Analytics v4.0.76
None
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
egger_14_ASD_discovery_cases
68 European, 2 Asian, 1 African, 1 Turkish, 1 Egyptian
Array SNP
Affymetrix 6.0
Birdsuite, iPattern, Affymetrix Genotyping Console
None
engchuan_15_ASD_discovery_cases
Caucasian
Solid phase hybridization
Illumina 1M
None
fitzgerald_14_ASD/DD/ID_discovery_cases
UK and Ireland
aCGH, WES
Agilent 2x1M, Agilent Exome+
Cnsolidate, CoNVex
None
kaminsky_11_DD/ID/ASD_discovery_cases
NA
aCGH
Agilent 44K, Agilent 105K
Feature Extraction, DNA Analytics
FISH, qPCR, MLPA, aCGH, standard G-banded chromosome analysis
krumm_13_ASD_discovery_cases
N/A
WES
Whole exome sequencing platforms used in four recent publications (O'Roak et al., 2011; Sanders et al., 2012; O'Roak et al., 2012, and Iossifov et al., 2012)
DNACopy, CGHCall
CoNIFER
None
krumm_15_ASD_discovery_cases
N/A
WES
CoNIFER, XHMM
Solid phase hybridization (Illumina 1M, 1 M Duo, or Omni 2.5)
kushima_22_SCZ_discovery_cases
Japan
aCGH
NimbleGen 720K Whole-Genome Tiling, Agilent SurePrint G3 Human CGH 400K
Fast Adaptive States Segmentation Technique 2
BioDiscovery Nexus Copy Number v.9.0
qRT-PCR
pfundt_16_nonNDD_discovery_cases
N/A
WES
Solid5500xl, IlluminaHiSeq2000
CoNIFER
MLPA, MAQ
poultney_13_ASD_discovery_cases
European
WES
Agilent SureSelect Human All Exon v.2
XHMM
None
prasad_12_ASD_discovery_cases
Canada
aCGH
Agilent 1M
ADM-2, DNAcopy (R Bioconductor)
DNA Analytics v4.0.85 (Agilent), DNAcopy
None
quintela_17_DD/ID_discovery_cases
North West Spain
Array SNP
Affymetrix Cytogenetics Whole-Genome 2M SNP array, Affymetrix CytoScan HD
Affymetrix ChAS v.1.2.2
None
sanders_11_ASD_discovery_cases
White non-Hispanic, 74.5%; mixed, 9.3%, Asian, 4.3%, White Hispanic, 4.0%, African-American, 3.8%; other, 4.2&
Solid phase hybridization
Illumina 1M v1, Illumina 1M v3
PennCNV, QuantiSNP, GNOSIS
zhou_19_ASD_discovery_cases
Han Chinese
Targeted exome sequencing
Roche NimbleGen SeqCap EZ Library, Illumina HiSeq 2500
XHMM v.1.0
qPCR
ziats_16_DD/ID/ADHD/ASD_discovery_cases
N/A
CMA
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
egger_14_ASD_discovery_controls
European
N/A
N/A
engchuan_15_ASD_discovery_controls
Caucasian
Solid phase hybridization
Illumina 1M
None
kaminsky_11_DD/ID/ASD_discovery_controls
NA
aCGH
Agilent 44K, Agilent 105K
Feature Extraction, DNA Analytics
kanduri_15_ASD_discovery_controls
Finnish
Solid phase hybridization
Illumina Infinium HD Human610-Quad BeadChip
QuantiSNP, PennCNV
Illumina BeadStudio
None
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
None
kushima_22_ASD/BPD/SCZ_discovery_controls
Japan
aCGH
NimbleGen 720K Whole-Genome Tiling, Agilent SurePrint G3 Human CGH 400K
Fast Adaptive States Segmentation Technique 2
BioDiscovery Nexus Copy Number v.9.0
qRT-PCR
nord_11_ASD_discovery_controls
aCGH
NimbleGen HD2
Sliding-window algorithm, ~10 kb minumum size threshold
None
poultney_13_ASD_discovery_controls
European
WES
Agilent SureSelect Human All Exon v.2
XHMM
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
zhou_19_ASD_discovery_controls
Han Chinese
Targeted exome sequencing
Roche NimbleGen SeqCap EZ Library, Illumina HiSeq 2500
XHMM v.1.0
Cases
Patient ID
Author, Year
Age
Gender
Primary Diagnosis
Clinical Profile
Cognitive Profile
CNV Start
CNV End
CNV Size
Genome Build
Type Method
Validation
celestino-soper_11_ASD_discovery_cases-11030
NA
M
ASD
NA
NA
222650362
222650785
424
GRCh38
Duplication
No
celestino-soper_11_ASD_discovery_cases-11303
NA
M
ASD
NA
NA
222693734
222703248
9515
GRCh38
Duplication
No
celestino-soper_11_ASD_discovery_cases-11399
NA
M
ASD
NA
NA
215083156
215083271
116
GRCh38
Deletion
No
celestino-soper_11_ASD_discovery_cases-11455
NA
M
ASD
NA
NA
222617780
222618527
748
GRCh38
Deletion
No
cusco_09_ASD_discovery_cases-AUT186
NA
M
PDD
Dysmorphism, retrognatia
Mild MR
221401766
221501748
99982
Unknown
Deletion
Yes
egger_14_ASD_discovery_cases-caseA86
N/A
N/A
ASD
CNV: high stringency genic CNV call (2 or more algorithms), with no overlapping calls in 2,357 POPGEN and OHI controls, and <50% overlap in DGV.
219914705
219939858
25154
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case13275_2543
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
221269233
221360008
90776
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case14082_1440
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
219845851
219947627
101777
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case4365_1
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
223445425
223476131
30707
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case4440_1
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
216086122
216144679
58558
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case6367_5
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
217226057
217289582
63526
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case8474_202
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
217422005
217835446
413442
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case8556_201
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
219838194
219908808
70615
GRCh38
Duplication
No
fitzgerald_14_ASD/DD/ID_discovery_cases-case000017
N/A
N/A
N/A
Clinical profile N/A; CNV from Supplementary Table S23
N/A
217273420
217430457
157038
GRCh38
Duplication
No
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000752
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
215206760
222004068
6797309
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000857
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
218321722
218961624
639903
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001718
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
217452423
218818361
1365939
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002314
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
216396695
217549806
1153112
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002475
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
215447347
221971832
6524486
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005210
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
216518607
219827290
3308684
GRCh38
Deletion
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.
219915448
219927105
11658
GRCh38
Duplication
No (not tested)
krumm_15_ASD_discovery_cases-case11470.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
220754946
220781901
26956
GRCh38
Deletion
Yes
krumm_15_ASD_discovery_cases-case13027.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Trio
221333536
221336387
2852
GRCh38
Duplication
Yes
kushima_22_SCZ_discovery_cases-caseSCZ3587
NA
NA
Schizophrenia
Diagnosis of schizophrenia according to DSM-5 criteria.
216747858
221079370
4331513
GRCh38
Deletion
Yes
pfundt_16_nonNDD_discovery_cases-case39
N/A
N/A
Non-NDD
Disease cohort: deafness. Description: USH2A deletion
215790058
215877881
87824
GRCh38
Deletion
Yes
poultney_13_ASD_discovery_cases-case00HI1739A
N/A
F
ASD
ASD case from AGRE (AGRE ID AU066204; NDAR ID NDAR_INVPW001PZX)
219915447
219927107
11661
GRCh38
Duplication
No
poultney_13_ASD_discovery_cases-case05HI3730A
N/A
M
ASD
ASD case from AGRE (AGRE ID AU1333302; NDAR ID NDAR_INVXN619JT9)
219982770
219984259
1490
GRCh38
Deletion
No
poultney_13_ASD_discovery_cases-case99HI1075A
N/A
M
ASD
ASD case from AGRE (AGRE ID AU024105; NDAR ID NDAR_INVFC762XU2)
219915447
219927107
11661
GRCh38
Duplication
No
prasad_12_ASD_discovery_cases-case85170L
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
219412391
219461280
48890
Unknown
Duplication
No
quintela_17_DD/ID_discovery_cases-caseID_295
15 yrs.
M
Intellectual disability
Joint hypermobility. Incomplete parental clinical history.
Mild intellectual disability
218259541
220767531
2507991
GRCh38
Deletion
No
quintela_17_DD/ID_discovery_cases-caseID_619
11 yrs.
M
Intellectual disability
Short stature
Intellectual disability
217833007
218028121
195115
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11033.p1
6.8
M
Autism
NA
Full-scale IQ, 59; non-verbal IQ, 69; verbal IQ, 56
223455088
223468098
13011
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11054.p1
13
M
Autism
NA
Full-scale IQ, 82; non-verbal IQ, 83; verbal IQ, 84
215353359
215378323
24965
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11132.p1
4.3
M
Autism
NA
Full-scale IQ, 47; non-verbal IQ, 49; verbal IQ, 32
218006005
218015509
9505
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11289.p1
6
M
Autism
NA
Full-scale IQ, 82; non-verbal IQ, 98; verbal IQ, 62
218909718
218915236
5519
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11289.p1
6
M
Autism
NA
Full-scale IQ, 82; non-verbal IQ, 98; verbal IQ, 62
217732477
217798638
66162
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11470.p1
8.7
M
Autism
NA
Full-scale IQ, 90; non-verbal IQ, 95; verbal IQ, 76
220753502
220782670
29169
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11538.p1
5.8
M
Autism
NA
Full-scale IQ, 88; non-verbal IQ, 93; verbal IQ, 85
214464465
214477437
12973
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12160.p1
8.3
M
Autism
NA
Full-scale IQ, 100; non-verbal IQ, 108; verbal IQ, 86
219872312
219947627
75316
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12229.p1
10.1
M
Autism
NA
Full-scale IQ, 84; non-verbal IQ, 89; verbal IQ, 80
214464976
214474285
9310
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12286.p1
4.8
M
Autism
NA
Full-scale IQ, 108; non-verbal IQ, 104; verbal IQ, 111
219834682
219908808
74127
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12304.p1
14.6
M
Autism
NA
Full-scale IQ, 83; non-verbal IQ, 83; verbal IQ, 77
218203770
218224238
20469
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
214422620
214425611
2992
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12396.p1
8.3
M
Autism
NA
Full-scale IQ, 99; non-verbal IQ, 98; verbal IQ, 101
215687122
215688415
1294
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12558.p1
10.5
M
Autism
NA
Full-scale IQ, 81; non-verbal IQ, 95; verbal IQ, 51
218006005
218015509
9505
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12605.p1
16.3
M
Autism
NA
Full-scale IQ, 120; non-verbal IQ, 108; verbal IQ, 136
215687122
215688415
1294
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12796.p1
5.2
M
Autism
NA
Full-scale IQ, 68; non-verbal IQ, 72; verbal IQ, 68
223458703
223471914
13212
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-13304.p1
6.9
M
Autism
NA
Full-scale IQ, 74; non-verbal IQ, 61; verbal IQ, 111
214420512
214425611
5100
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-13337.p1
5.1
M
Autism
NA
Full-scale IQ, 125; non-verbal IQ, 107; verbal IQ, 110
220753502
220782670
29169
GRCh38
Deletion
No
zhou_19_ASD_discovery_cases-caseAU052603
N/A
N/A
ASD
Diagnosis of ASD by ADI-R and ADOS.
216046381
216078412
32032
GRCh38
Duplication
Yes
ziats_16_DD/ID/ADHD/ASD_discovery_cases-case6
15 yrs.
F
ID
Original reason for referral: mild intellectual disability. Developmental milestones: sitting at 11 months, crawling at 14 months, walking at 17 months; first word at 40 months, 2 word sentences at 60 months. ADOS Summary: not autism or ASD. ADI-R summary: not autism/ASD; Total A score of 16 (cutoff 10), Total B verbal score of 15 (cutoff 8), Total C score of 0 (cutoff 3), Total D score of 4 (cutoff 1). Strictest Diagnosis of Autism (positive on ADOS and ADI-R): no. Adaptive Behavior Assessment System, Second Edition (ABAS-II) results: GAC Composite Score of 78 (7th %ile, borderline qualitative range); Conceptual Composite Score of 84 (14th %ile, below average qualitative range); Social Composite Score of 84 (14th %ile, below average qualitative range); Practical Composite Score of 82 (12th %ile, below average qualitative range). Behavioral Assessment for Children, Second Edition (BASC-2) results: Externalizing T-score of 46 (%ile rank 39); Internalizing T score of 41 (%ile rank 17); Behavioral T score of 51 (%ile rank 61); Adaptive skills T score of 33 (%ile rank 5); Hyperactivity T score of 51 (%ile rank 64); Aggression T score of 44 (%ile rank 30); Conduct problems T score of 44 (%ile rank 34); Anxiety T score of 49 (%ile rank 50); Depression T score of 41 (%ile rank 18); Somatization T score of 37 (%ile rank 4); Atypicality T score of 45 (%ile rank 42); Withdrawal T score of 68 (%ile rank 94); Attention Problems T score of 57 (%ile rank 76); Adaptibility T score of 50 (%ile rank 47); Social skills T score of 35 (%ile rank 8); Leadership T score of 32 (%ile rank 4); Activities of daily living T score of 33 (%ile rank 6); Functional communication T score of 29 (%ile rank 3). History of seizures: no. History of hypotonia: yes. Growth parameters: height 6th %ile (Z score -1.52), weight 35th %ile (Z score -0.37), OFC 27th %ile (Z score -0.6). Family history: unknown (adopted). 15q13.3 microdeletion breakpoints: BP4-BP5.
Differential Ability Scales-II results: VRIQ, 35; NVRIQ, 53; FSRIQ, 39.
222581749
223338901
757153
GRCh38
Deletion
No
Controls
Patient ID
Author, Year
Age
Gender
Primary Diagnosis
Clinical Profile
Cognitive Profile
CNV Start
CNV End
CNV Size
Genome Build
Type Method
Validation
engchuan_15_ASD_discovery_controls-controlB308771_1007854329
N/A
N/A
Control
No previous psychiatric history
219908808
219939086
30279
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlB345605_1007844543
N/A
N/A
Control
No previous psychiatric history
215692592
215966233
273642
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlB868287_1007844940
N/A
N/A
Control
No previous psychiatric history
223165853
223265429
99577
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlHABC_900521_900521
N/A
N/A
Control
No previous psychiatric history
219089997
219404280
314284
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlHABC_900938_900938
N/A
N/A
Control
No previous psychiatric history
217574623
217687604
112982
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlHABC_901174_901174
N/A
N/A
Control
No previous psychiatric history
217506693
217555012
48320
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlHABC_902493_902493
N/A
N/A
Control
No previous psychiatric history
218532171
218842676
310506
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlHABC_902517_902517
N/A
N/A
Control
No previous psychiatric history
216980584
217033747
53164
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlHABC_902807_902807
N/A
N/A
Control
No previous psychiatric history
220026510
220108966
82457
GRCh38
Duplication
No
kanduri_15_ASD_discovery_controls-control_split1839
N/A
N/A
Control
Control screened for DSM-IV mental disorders using the Composite International Diagnostic Interview and psychotic disorders using the research version of the Structured Clinical Interview for DSM-IV
223638165
223645256
7092
Unknown
Duplication
No
kanduri_15_ASD_discovery_controls-control_split763
N/A
N/A
Control
Control screened for DSM-IV mental disorders using the Composite International Diagnostic Interview and psychotic disorders using the research version of the Structured Clinical Interview for DSM-IV
223901545
223906113
4569
Unknown
Deletion
No
krumm_13_ASD_discovery_controls-control13890.s1
N/A
F
Control
Unaffected sibling from SSC quad family 13890. SRS score of 47.
219915448
219927105
11658
GRCh38
Duplication
No (not tested)
nord_11_ASD_discovery_controls-04C28078
Control
221461971
221515025
53055
Unknown
Duplication
poultney_13_ASD_discovery_controls-control04C27316A
N/A
F
Control
NIMH Control (NIMH ID 89746)
220058842
220072959
14118
GRCh38
Deletion
No
poultney_13_ASD_discovery_controls-control04C29555A
N/A
M
Control
NIMH Control (NIMH ID 12169)
219915447
219927107
11661
GRCh38
Duplication
No
poultney_13_ASD_discovery_controls-control05C41778
N/A
M
Control
NIMH Control (NIMH ID 47544)
215758593
216078364
319772
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11033.s1
6.8
F
Control (matched sibling)
NA
NA
223455088
223468098
13011
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11132.s1
10.7
M
Control (matched sibling)
NA
NA
218006005
218015509
9505
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11156.s1
10.3
M
Control (matched sibling)
NA
NA
223455088
223471914
16827
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11241.s1
11.9
M
Control (matched sibling)
NA
NA
215687122
215688415
1294
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11470.s1
12.2
M
Control (matched sibling)
NA
NA
220753502
220782670
29169
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11894.s1
4.2
M
Control (matched sibling)
NA
NA
218702842
218722189
19348
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12605.s1
13.3
M
Control (matched sibling)
NA
NA
215687122
215688415
1294
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12701.s1
10.4
M
Control (matched sibling)
NA
NA
216990212
216991802
1591
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-12749.s1
4.3
F
Control (matched sibling)
NA
NA
215955740
215959536
3797
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12796.s1
6.8
F
Control (matched sibling)
NA
NA
223455088
223471914
16827
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-13301.s1
12.3
M
Control (matched sibling)
NA
NA
216874996
216876573
1578
GRCh38
Deletion
No
Cases
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
celestino-soper_11_ASD_discovery_cases-11030
Unknown
Simplex
NA
MIA3
celestino-soper_11_ASD_discovery_cases-11303
Unknown
Simplex
NA
AIDA
celestino-soper_11_ASD_discovery_cases-11399
Unknown
Simplex
NA
KCNK2
celestino-soper_11_ASD_discovery_cases-11455
Unknown
Simplex
NA
MIA3
cusco_09_ASD_discovery_cases-AUT186
MLPA & array SNP (Illumina 370)
Paternal
NA
NA
TLR5, SUSD4
egger_14_ASD_discovery_cases-caseA86
Unknown
Unknown
SLC30A10
engchuan_15_ASD_discovery_cases-case13275_2543
Unknown
C1orf140
engchuan_15_ASD_discovery_cases-case14082_1440
Unknown
SLC30A10
engchuan_15_ASD_discovery_cases-case4365_1
Unknown
engchuan_15_ASD_discovery_cases-case4440_1
Unknown
USH2A
engchuan_15_ASD_discovery_cases-case6367_5
Unknown
engchuan_15_ASD_discovery_cases-case8474_202
Unknown
SPATA17-AS1,GPATCH2,SPATA17
engchuan_15_ASD_discovery_cases-case8556_201
Unknown
SLC30A10
fitzgerald_14_ASD/DD/ID_discovery_cases-case000017
De novo
Unknown
Unknown
GPATCH2
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000752
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
VDAC1P10,MRPS18BP1,SPATA17-AS1,UBBP2,RNU1-141P,TGFB2-AS1,TGFB2-OT1,NXNP1,LINC01710,RIMKLBP2,RNA5SP76,MIR215,MIR194-1,RPS15AP12,MIR664A,SNORA36B,MORF4L1P1,AURKAP1,XRCC6P3,PRELID3BP1,RN7SL464P,RNU6ATAC35P,LINC01352,HLX,RNU6-403P,LINC00210,LINC01653,RRP15,C1orf143,LYPLAL1,ZC3H11B,EPRS,IARS2,HDAC1P2,C1orf115,MARC2,MARC1,C1orf140,DUSP10,LINC01655,LINC02474,KCNK2,KCTD3,GPATCH2,SPATA17,TGFB2,SLC30A10,BPNT1,MARK1,HLX-AS1,LINC02257,USH2A,ESRRG,LYPLAL1-DT,RAB3GAP2
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000857
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Maternal
Unknown
Unknown
TGFB2-AS1,TGFB2-OT1,NXNP1,LINC01710,RRP15,C1orf143,TGFB2
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001718
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
De novo
Unknown
Unknown
SPATA17-AS1,UBBP2,RNU1-141P,TGFB2-AS1,TGFB2-OT1,LINC00210,LINC01653,RRP15,C1orf143,GPATCH2,SPATA17,TGFB2
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002314
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Maternal
Unknown
Unknown
GPATCH2,USH2A,ESRRG
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002475
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
MRPS18BP1,SPATA17-AS1,UBBP2,RNU1-141P,TGFB2-AS1,TGFB2-OT1,NXNP1,LINC01710,RIMKLBP2,RNA5SP76,MIR215,MIR194-1,RPS15AP12,MIR664A,SNORA36B,MORF4L1P1,AURKAP1,XRCC6P3,PRELID3BP1,RN7SL464P,RNU6ATAC35P,LINC01352,HLX,RNU6-403P,LINC00210,LINC01653,RRP15,C1orf143,LYPLAL1,ZC3H11B,EPRS,IARS2,HDAC1P2,C1orf115,MARC2,MARC1,C1orf140,DUSP10,LINC01655,LINC02474,KCTD3,GPATCH2,SPATA17,TGFB2,SLC30A10,BPNT1,MARK1,HLX-AS1,LINC02257,USH2A,ESRRG,LYPLAL1-DT,RAB3GAP2
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005210
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
SPATA17-AS1,UBBP2,RNU1-141P,TGFB2-AS1,TGFB2-OT1,NXNP1,LINC01710,RIMKLBP2,RNA5SP76,LINC00210,LINC01653,RRP15,C1orf143,LYPLAL1,ZC3H11B,GPATCH2,SPATA17,TGFB2,SLC30A10,ESRRG,LYPLAL1-DT
krumm_13_ASD_discovery_cases-case13890.p1
Paternal
Simplex
Not segregated
SLC30A10
krumm_15_ASD_discovery_cases-case11470.p1
Illumina 1MDuo
Maternal
Simplex
Segregated
MARC2
krumm_15_ASD_discovery_cases-case13027.p1
1M-Duov3
Paternal
Simplex
Segregated
C1orf140
kushima_22_SCZ_discovery_cases-caseSCZ3587
qRT-PCR
Unknown
ESRRG,EPRS1,RRP15,SLC30A10,GPATCH2,MTARC2,IARS2,C1orf115,MTARC1,SPATA17,LYPLAL1,XRCC6P3,HLX,MORF4L1P1,MIR215,MIR194-1,LINC02869,ZC3H11B,LYPLAL1-DT,SNORA36B,TGFB2-AS1,NXNP1,PRELID3BP1,RPS15AP12,MARK1,SNX2P1,MIR664A,HDAC1P2,RIMKLBP2,RNA5SP76,LINC00210,HLX-AS1,LINC01352,LINC01653,LYPLAL1-AS1,SPATA17-AS1,TGFB2-OT1,LINC01710,LINC02779,AURKAP1,TGFB2,RN7SL464P,RNU6ATAC35P,RNU1-141P,BPNT1,UBBP2,RAB3GAP2
pfundt_16_nonNDD_discovery_cases-case39
MLPA or MAQ
USH2A
poultney_13_ASD_discovery_cases-case00HI1739A
Unknown
Unknown (likely multiplex/AGRE)
Unknown
SLC30A10
poultney_13_ASD_discovery_cases-case05HI3730A
Unknown
Unknown (likely multiplex/AGRE)
Unknown
EPRS
poultney_13_ASD_discovery_cases-case99HI1075A
Unknown
Unknown (likely multiplex/AGRE)
Unknown
SLC30A10
prasad_12_ASD_discovery_cases-case85170L
Unknown
Unknown
Unknown
0 genes
quintela_17_DD/ID_discovery_cases-caseID_295
Maternal
Unknown
TGFB2-AS1,TGFB2-OT1,NXNP1,LINC01710,RIMKLBP2,RNA5SP76,MIR215,MIR194-1,RPS15AP12,MIR664A,SNORA36B,MORF4L1P1,AURKAP1,XRCC6P3,PRELID3BP1,RN7SL464P,RRP15,C1orf143,LYPLAL1,ZC3H11B,EPRS,IARS2,HDAC1P2,C1orf115,MARC2,TGFB2,SLC30A10,BPNT1,MARK1,LYPLAL1-DT,RAB3GAP2
quintela_17_DD/ID_discovery_cases-caseID_619
Unknown
Unknown
UBBP2,LINC00210,SPATA17
sanders_11_ASD_discovery_cases-11033.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11054.p1
Maternal
Simplex (quad-proband matched)
Segregated
VDAC1P10
sanders_11_ASD_discovery_cases-11132.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11289.p1
Maternal
Simplex (quad-proband matched)
Not segregated
LINC01710
sanders_11_ASD_discovery_cases-11289.p1
Maternal
Simplex (quad-proband matched)
Not segregated
SPATA17-AS1,SPATA17
sanders_11_ASD_discovery_cases-11470.p1
Maternal
Simplex (quad-proband matched)
Not segregated
MARC2
sanders_11_ASD_discovery_cases-11538.p1
Unknown
Simplex (quad-proband matched)
Segregated
PTPN14
sanders_11_ASD_discovery_cases-12160.p1
Maternal
Simplex (quad-proband unmatched)
Unknown
SLC30A10
sanders_11_ASD_discovery_cases-12229.p1
Unknown
Simplex (quad-proband matched)
Not segregated
PTPN14
sanders_11_ASD_discovery_cases-12286.p1
Maternal
Simplex (trio)
NA
SLC30A10
sanders_11_ASD_discovery_cases-12304.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12395.p1
Paternal
Simplex (trio)
NA
PTPN14
sanders_11_ASD_discovery_cases-12396.p1
Paternal
Simplex (quad-proband matched)
Not segregated
USH2A
sanders_11_ASD_discovery_cases-12558.p1
Maternal
Simplex (trio)
NA
sanders_11_ASD_discovery_cases-12605.p1
Paternal
Simplex (quad-proband matched)
Not segregated
USH2A
sanders_11_ASD_discovery_cases-12796.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-13304.p1
Unknown
Simplex (quad-proband unmatched)
Unknown
PTPN14
sanders_11_ASD_discovery_cases-13337.p1
Paternal
Simplex (trio)
NA
MARC2
zhou_19_ASD_discovery_cases-caseAU052603
qPCR
De novo
USH2A
ziats_16_DD/ID/ADHD/ASD_discovery_cases-case6
Unknown
NDUFB1P2,TAF1A-AS1,MIA3,BROX,FAM177B,TLR5,TAF1A,AIDA,DISP1,SUSD4
Controls
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
engchuan_15_ASD_discovery_controls-controlB308771_1007854329
Unknown
SLC30A10
engchuan_15_ASD_discovery_controls-controlB345605_1007844543
Unknown
USH2A
engchuan_15_ASD_discovery_controls-controlB868287_1007844940
Unknown
SUSD4
engchuan_15_ASD_discovery_controls-controlHABC_900521_900521
Unknown
RIMKLBP2,LYPLAL1,LYPLAL1-DT
engchuan_15_ASD_discovery_controls-controlHABC_900938_900938
Unknown
GPATCH2,SPATA17
engchuan_15_ASD_discovery_controls-controlHABC_901174_901174
Unknown
GPATCH2
engchuan_15_ASD_discovery_controls-controlHABC_902493_902493
Unknown
engchuan_15_ASD_discovery_controls-controlHABC_902517_902517
Unknown
ESRRG
engchuan_15_ASD_discovery_controls-controlHABC_902807_902807
Unknown
EPRS,IARS2,BPNT1
kanduri_15_ASD_discovery_controls-control_split1839
Unknown
Intergenic CNV: nearest genes, C1orf65(dist=69353),CAPN8(dist=69716)
kanduri_15_ASD_discovery_controls-control_split763
Unknown
CAPN2
krumm_13_ASD_discovery_controls-control13890.s1
Paternal
Simplex
SLC30A10
nord_11_ASD_discovery_controls-04C28078
SUSD4
poultney_13_ASD_discovery_controls-control04C27316A
Unknown
BPNT1
poultney_13_ASD_discovery_controls-control04C29555A
Unknown
SLC30A10
poultney_13_ASD_discovery_controls-control05C41778
Unknown
USH2A
sanders_11_ASD_discovery_controls-11033.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11132.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11156.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11241.s1
Maternal
Simplex (quad)
NA
USH2A
sanders_11_ASD_discovery_controls-11470.s1
Maternal
Simplex (quad)
NA
MARC2
sanders_11_ASD_discovery_controls-11894.s1
Unknown
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12605.s1
Paternal
Simplex (quad)
NA
USH2A
sanders_11_ASD_discovery_controls-12701.s1
Paternal
Simplex (quad)
NA
ESRRG
sanders_11_ASD_discovery_controls-12749.s1
Unknown
Simplex (quad)
NA
USH2A
sanders_11_ASD_discovery_controls-12796.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-13301.s1
Maternal
Simplex (quad)
NA
ESRRG
No Animal Model Data Available