Xq27.3CNV Type: Deletion-Duplication
Largest CNV size: 339727 bp
Statistics Box:
Number of Reports: 13
Number of Reports: 13
Summary Information
Summary statement in development
Additional Locus Information
References
Major Reports
Title
Author, Year
Report Class
CNV Type
Structural variation of chromosomes in autism spectrum disorder.
Deletion-Duplication
An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabili...
Deletion-Duplication
Confirmation of chromosomal microarray as a first-tier clinical diagnostic test for individuals with developmental delay, intellectual disability, ...
Duplication
Performance of chromosomal microarray for patients with intellectual disabilities/developmental delay, autism, and multiple congenital anomalies in...
Deletion
Minor Reports
Title
Author, Year
Report Class
CNV Type
Reduced transcript expression of genes affected by inherited and de novo CNVs in autism.
Deletion
Multiple recurrent de novo CNVs, including duplications of the 7q11.23 Williams syndrome region, are strongly associated with autism.
Deletion-Duplication
A discovery resource of rare copy number variations in individuals with autism spectrum disorder.
Deletion-Duplication
Both rare and de novo copy number variants are prevalent in agenesis of the corpus callosum but not in cerebellar hypoplasia or polymicrogyria.
Deletion
Copy number variation in Han Chinese individuals with autism spectrum disorder.
Duplication
Performance of case-control rare copy number variation annotation in classification of autism.
Deletion-Duplication
Recurrent 15q11.2 BP1-BP2 microdeletions and microduplications in the etiology of neurodevelopmental disorders.
Deletion
Cases
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
battaglia_13_DD/ID/ASD_discovery_cases
Patients affected by DD/ID/ASD/dysmorphic features of unknown origin observed at the Stella Maris Institute (Pisa, Italy) between May 2004 & December 2011
349
34 cases with borderline intellectual disability, 237 cases with mixed intellectual disability, 78 cases with intellectual disability and ASD (cases referred with a provisional diagnosis of ASD evaluated with ADI-R and ADOS-G)
Range, 5 mos.-19 yrs.
63.9% Male
700000
0
1
1
chong_14_DD/ID/ASD/MCA_discovery_cases
Patients referred to clinical genetics service and recruited for CMA application study
105
Developmental delay/intellectual disability (DD/ID), autism (ASD), and/or multiple congenital anomalies (MCA)
N/A
N/A
11000
1
0
1
engchuan_15_ASD_discovery_cases
Samples from the Autism Genome Project (AGP)
1892
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
N/A
85.78% Male
341338
1
5
6
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
96749
0
1
1
jiraanont_22_ADHD/DD/ID_discovery_cases
7-year-old male patient with Fragile X syndrome resulting from a de novo Xq27.3 deletion affecting the FMR1 gene.
1
Case presented with ADHD, developmental delay, and intellectual disability.
7 yrs.
Male
1170796
1
0
1
kaminsky_11_DD/ID/ASD_discovery_cases
Cases from the International Standards for Cytogenomic Arrays (ISCA) consortium
15749
Unexplained developmental delay, intellectual disability, dysmorphic features, multiple congenital anomalies, autism spectrum disorders, or clinical features suggestive of a chromosomal syndrome
NA
NA
693177
1
2
3
krumm_15_ASD_discovery_cases
Probands from the Simons Simplex Collection
2377
Diagnosis of ASD
N/A
N/A
95658
0
1
1
marshall_08_ASD_discovery_cases
Cohort of ASD families (237 simplex, 189 mulitplex) recruited from the Hospital for Sick Children, McMaster Univ., Memorial Univ., and other sites
427
ASD
339727
1
1
2
nord_11_ASD_discovery_cases
Youth with ASD (as part of mother-father-child trios)
41
ASD
85.4% Male
160035
1
0
1
picinelli_16_ASD/ADHD/DD/ID_discovery_cases
Patients with 15q11.2 CNVs assessed in the Child and Adolescent Neuropsychiatry Unit of Campus Bio-Medico University Hospital in Rome, Italy, from an original cohort of 243 subjects affected by neurodevelopmental disorders and their first-degree relatives
6
Neuropsychiatric diagnosis made according to DSM-IV criteria. Instruments used for data collection were Leiter International Performance Scale-Revised (Leiter-R), Wechsler Intelligence Scale for Children-3rd Revision (WISC III), Wechsler Adult Intelligence Scale-3rd edition (WAIS-III), Autism Diagnostic Observation Schedule (ADOS), Autism and Asperger Diagnostic Scale-Revised (RAADS-R), Autism Diagnostic Interview-Revised (ADI-R), Vineland Adaptive Behavior Scales (VABS), and the Child Behavior Checklist (CBCL/6-18)
Range, 8-19 yrs.
83.33% Male
32548
1
0
1
prasad_12_ASD_discovery_cases
Unrelated ASD cases recruited from three Canadian sites (Hospital for Sick Children, McMaster University, and Memorial University of Newfoundland); the majority of cases had been previously genotyped with results published in Marshall et al., 2008 and Pinto et al., 2010. 20 cases from initial cohort of 696 were excluded from further analysis (due to CNVs > 5 Mb).
676
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS
NA
82.84% Male
368601
1
5
6
sajan_13_ACC/CBLH/PMG_discovery_cases
Individuals with severe congenital brain malformations [agenesis of the corpus callosum (ACC), cerebellar hypoplasia (CBLH), and/or polymicrogyria (PMG)] and additional neurodevelopmental phenotypes
487
Diagnosis of agenesis of the corpus callosum (ACC), cerebellar hypoplasia (CBLH), and/or polymicrogyria (PMG); additional diagnoses of autism spectrum disorder (ASD), developmental delay (DD), intellectual disability (ID) and/or seizures in some patients
N/A
N/A
133840
1
0
1
sanders_11_ASD_discovery_cases
Autistic probands from the Simons Simplex Collection (SSC). 872 probands in quartet families, 272 probands in trios.
1124
ASD diagnosis: 89.5% autism; 8.5% PDD-NOS, 2% Asperger syndrome. Mean full-scale IQ 85.1 1.5 (mean verbal IQ, 81.9 1.7; mean non-verbal IQ, 88.4 1.4)
Mean, 9.1 yrs.
86.1% Male
117120
40
3
43
Controls
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
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
503345
5
5
10
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_15_ASD_discovery_controls
Unaffected siblings from quad families from the Simons Simplex Collection
1786
Control
N/A
N/A
71317
1
1
2
marshall_08_ASD_discovery_controls_1
German PopGen project and entries from Database of Genomic Variants
500
Controls
0
0
0
0
marshall_08_ASD_discovery_controls_2
Non-disease controls from Ontario population
1152
Controls
0
0
0
0
nord_11_ASD_discovery_controls
Samples from 367 total control individuals (319 European American, 48 African American) used to test for differences in rare CNV prevalence compared with autism cases
123
Controls (no history of psychiatric symptoms by self-report)
30 yrs.
41405
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)
368601
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.
269160
28
5
33
Cases
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
battaglia_13_DD/ID/ASD_discovery_cases
Italy
aCGH, array SNP
BACs aCGH, Agilent 44K, Agilent 180K, Affymetrix 6.0
FISH, qPCR
chong_14_DD/ID/ASD/MCA_discovery_cases
Chinese
aCGH
High-resolution 180K oligoarray
aCGH (NimbleGen)
engchuan_15_ASD_discovery_cases
Caucasian
Solid phase hybridization
Illumina 1M
None
gazzellone_14_ASD_discovery_cases
Han Chinese
Array SNP
Affymetrix CytoScan HD
ChAS, iPattern, Nexus, Partek
None
jiraanont_22_ADHD/DD/ID_discovery_cases
NA
aCGH
Agilent 244K
NA
NA
PCR, Southern blotting
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_15_ASD_discovery_cases
N/A
WES
CoNIFER, XHMM
Solid phase hybridization (Illumina 1M, 1 M Duo, or Omni 2.5)
marshall_08_ASD_discovery_cases
90% European, 4.5% European-mixed, 4.5% Asian, 0.07% African
Array SNP, karotyping
Affymetrix 500K
dChip, CNAG, GEMCA
qPCR, qmPCR
nord_11_ASD_discovery_cases
29 European American, 3 Asian American, 2 Hispanic, 2 African American, 5 unknown ancestry
aCGH
NimbleGen HD2
Sliding-window algorithm, ~10 kb minumum size threshold
None
picinelli_16_ASD/ADHD/DD/ID_discovery_cases
Italy
aCGH
Agilent SurePrint G3 4x180K
ADM-2
Agilent Cytogenomic Software v2.7
None
prasad_12_ASD_discovery_cases
Canada
aCGH
Agilent 1M
ADM-2, DNAcopy (R Bioconductor)
DNA Analytics v4.0.85 (Agilent), DNAcopy
None
sajan_13_ACC/CBLH/PMG_discovery_cases
81.31% Caucasian
Solid phase hybridization
Illumina InfiniumII HumanHap610
PennCNV
None (not tested or failure to confirm by qPCR)
sanders_11_ASD_discovery_cases
White non-Hispanic, 74.5%; mixed, 9.3%, Asian, 4.3%, White Hispanic, 4.0%, African-American, 3.8%; other, 4.2&
Solid phase hybridization
Illumina 1M v1, Illumina 1M v3
PennCNV, QuantiSNP, GNOSIS
Controls
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
engchuan_15_ASD_discovery_controls
Caucasian
Solid phase hybridization
Illumina 1M
None
kaminsky_11_DD/ID/ASD_discovery_controls
NA
aCGH
Agilent 44K, Agilent 105K
Feature Extraction, DNA Analytics
krumm_15_ASD_discovery_controls
N/A
WES
CoNIFER, XHMM
Solid phase hybridization (Illumina 1M, 1 M Duo, or Omni 2.5)
marshall_08_ASD_discovery_controls_1
European
Array SNP, karotyping
Affymetrix 500K
dChip, CNAG, GEMCA
marshall_08_ASD_discovery_controls_2
European
Array SNP, karotyping
Affymetrix 500K
dChip, CNAG, GEMCA
nord_11_ASD_discovery_controls
aCGH
NimbleGen HD2
Sliding-window algorithm, ~10 kb minumum size threshold
None
prasad_12_ASD_discovery_controls
NA
aCGH
Agilent 1M
ADM-2, DNAcopy (R Bioconductor)
DNA Analytics v4.0.85 (Agilent), DNAcopy
sanders_11_ASD_discovery_controls
Solid phase hybridization
Illumina 1M v1 or Illumina 1M v3
PennCNV, QuantiSNP, GNOSIS
Cases
Patient ID
Author, Year
Age
Gender
Primary Diagnosis
Clinical Profile
Cognitive Profile
CNV Start
CNV End
CNV Size
Genome Build
Type Method
Validation
battaglia_13_DD/ID/ASD_discovery_cases-case13
6 yrs. 4 mos.
M
PDD-NOS
Autism: yes (PDD-NOS). Epilepsy: no. Dysmorphic features: yes.
N/A (not testable)
145088637
145777624
688988
GRCh38
Duplication
Yes
chong_14_DD/ID/ASD/MCA_discovery_cases-caseaCGH2159
N/A
F
Developmental delay
Severe developmental delay, hypotonia, tuneal ataxia & dymentia, retractory seisure
Severe developmental delay
147909699
147920743
11045
GRCh38
Deletion
Yes
engchuan_15_ASD_discovery_cases-case13003_43
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
144542816
144800570
257755
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case4203_1
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
145014177
145104801
90625
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case5108_3
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
144477583
144564912
87330
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case5277_3
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
144263494
144626458
362965
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case5305_3
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
144477583
144564912
87330
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case6266_3
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
143979639
144135840
156202
GRCh38
Deletion
No
gazzellone_14_ASD_discovery_cases-case550-3
N/A
M
ASD
ASD; no other clinical information provided
N/A
144570371
144667120
96750
GRCh38
Duplication
No
jiraanont_22_ADHD/DD/ID_discovery_cases-case1
7 yrs.
M
ADHD, developmental delay, and intellectual disability
Birth/neonatal history: full-term infant born after a normal pregnancy; birth weight 4500 g; no perinatal problems. Developmental milestones: sitting at 6 months, walking at 21 months, using words at 17 months, phrases by 3.5 years; cannot get dressed without help. Motor and musculoskeletal evaluation: pectus excavatum. Behavioral/psychiatric evaluation: early behavior included ADHD; hand biting and hand flapping when excited; anxiety; excessive shyness; avoidance of eye contact; irritiability; hyperactivity; concentration problems; short attention span; distractibility; impulsivity. Additional medical history: macroorchidism. Dysmorphic features: long face, prominent forehead, large and protruding ears, long palpebral fissures, epicanthus, flat nasal bridge. Growth parameters: weight 29 kg (92nd %ile), height 125 cm (45th %ile), head circumference 52.5 cm (64th %ile) at 7 years. Family history: third child of non-consanguineous parents; his older sisters are healthy, a maternal uncle has mild-moderate intellectual disability, and a maternal aunt has depressive disorders and ovarian cysts.
Moderate intellectual disability (WISC-V IQ 41); deficits in visual analysis and synthesis; learning problems, especially difficulty with mathematics.
146795556
147966351
1170796
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000082
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
144251509
144887684
636176
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001113
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
147933767
147951004
17238
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004316
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
143118423
143816291
697869
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_cases-case12803.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
147189395
147285053
95659
GRCh38
Duplication
Yes
marshall_08_ASD_discovery_cases-SK0234-003
NA
M
ASD
NA
NA
143752385
143873390
121006
GRCh38
Deletion
Yes
marshall_08_ASD_discovery_cases-SK0320-003
NA
M
ASD
NA
NA
144250928
144612287
361360
GRCh38
Duplication
Yes
nord_11_ASD_discovery_cases-312-1
ASD
144131667
144291701
160035
Unknown
Deletion
No
picinelli_16_ASD/ADHD/DD/ID_discovery_cases-patient1
N/A
M
ASD and intellectual disability
Developmental milestones: mild delay in walking (18 months); language regression after 2.5 years of age. Language and communication evaluation: non-verbal autism. Behavioral/psychiatric evaluation: non-verbal autism; OCD; irritability; mood disorder; stereotypies. Family history: father affected by mood disorder, anxiety, and chronic alcoholism; father's cousin affected by language delay; mother with autoimmune connective tissue disease.
Severe intellectual disability
145828685
145861233
32549
GRCh38
Deletion
No
prasad_12_ASD_discovery_cases-case130293
NA
F
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
146553209
146586370
33162
Unknown
Duplication
No
prasad_12_ASD_discovery_cases-case45554
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
143377767
143459927
82161
Unknown
Duplication
No
prasad_12_ASD_discovery_cases-case68785
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
144884645
144890093
5449
Unknown
Deletion
No
prasad_12_ASD_discovery_cases-case79449
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
143174866
143543466
368601
Unknown
Duplication
No
prasad_12_ASD_discovery_cases-case93773L
NA
F
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
143377767
143459927
82161
Unknown
Duplication
No
prasad_12_ASD_discovery_cases-caseMM0234-5
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
143225453
143241158
15706
Unknown
Duplication
No
sajan_13_ACC/CBLH/PMG_discovery_cases-case1183-0
N/A
N/A
ACC-CBLH
Diagnosis of agenesis of the corpus callosum (ACC) and cerebellar hypoplasia (CBLH). ASD: no. Seizures: yes.
Developmental delay: yes. Intellectual disability: yes.
145250160
145384001
133842
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11047.p1
10.4
M
Autism
NA
Full-scale IQ, 60; non-verbal IQ, 74; verbal IQ, 36
144642171
144676369
34199
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11117.p1
9.3
F
Autism
NA
Full-scale IQ, 121; non-verbal IQ, 119; verbal IQ, 119
145082821
145092718
9898
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11227.p1
9.7
M
Autism
NA
Full-scale IQ, 80; non-verbal IQ, 93; verbal IQ, 63
146827296
146859007
31712
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11495.p1
5.2
M
Autism
NA
Full-scale IQ, 118; non-verbal IQ, 113; verbal IQ, 120
146827296
146859007
31712
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11543.p1
16.9
M
Autism
NA
Full-scale IQ, 63; non-verbal IQ, 81; verbal IQ, 31
144549620
144556237
6618
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11768.p1
8.4
M
Autism
NA
Full-scale IQ, 85; non-verbal IQ, 84; verbal IQ, 89
144549620
144556237
6618
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11857.p1
6.7
M
Autism
NA
Full-scale IQ, 99; non-verbal IQ, 101; verbal IQ, 96
144549620
144556237
6618
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11859.p1
4.5
M
Autism
NA
Full-scale IQ, 54; non-verbal IQ, 49; verbal IQ, 47
144545104
144556237
11134
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11872.p1
7.8
F
Autism
NA
Full-scale IQ, 62; non-verbal IQ, 65; verbal IQ, 67
146159191
146179603
20413
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11888.p1
4
M
ASD
NA
Full-scale IQ, 81; non-verbal IQ, 89; verbal IQ, 75
144549620
144556237
6618
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11990.p1
11.4
M
Autism
NA
Full-scale IQ, 79; non-verbal IQ, 81; verbal IQ, 78
147098591
147098954
364
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12118.p1
12.6
F
Autism
NA
Full-scale IQ, 82; non-verbal IQ, 74; verbal IQ, 102
145055758
145081335
25578
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12119.p1
5.2
M
Autism
NA
Full-scale IQ, 48; non-verbal IQ, 55; verbal IQ, 41
147098591
147098954
364
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12121.p1
8.5
M
Autism
NA
Full-scale IQ, 130; non-verbal IQ, 134; verbal IQ, 110
144549620
144556237
6618
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12149.p1
5.3
M
Autism
NA
Full-scale IQ, 92; non-verbal IQ, 89; verbal IQ, 103
144549620
144556237
6618
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12150.p1
8.7
M
Autism
NA
Full-scale IQ, 109; non-verbal IQ, 95; verbal IQ, 133
144545104
144556237
11134
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12158.p1
5.7
M
Autism
NA
Full-scale IQ, 86; non-verbal IQ, 81; verbal IQ, 100
144549620
144556237
6618
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12162.p1
4.3
M
Autism
NA
Full-scale IQ, 67; non-verbal IQ, 68; verbal IQ, 75
147098591
147098954
364
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12233.p1
5.5
M
Autism
NA
Full-scale IQ, 106; non-verbal IQ, 108; verbal IQ, 99
144549620
144556237
6618
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12359.p1
9.3
M
Autism
NA
Full-scale IQ, 78; non-verbal IQ, 87; verbal IQ, 69
145362679
145369593
6915
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12372.p1
15.7
F
Autism
NA
Full-scale IQ, 75; non-verbal IQ, 74; verbal IQ, 80
146159191
146181484
22294
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
144549620
144556237
6618
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12415.p1
12.8
M
Autism
NA
Full-scale IQ, 94; non-verbal IQ, 97; verbal IQ, 89
144549620
144556237
6618
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12426.p1
8.1
M
Autism
NA
Full-scale IQ, 81; non-verbal IQ, 86; verbal IQ, 81
144549620
144556237
6618
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12460.p1
9.4
M
Autism
NA
Full-scale IQ, 68; non-verbal IQ, 73; verbal IQ, 63
144545104
144556237
11134
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12501.p1
5.6
M
Autism
NA
Full-scale IQ, 96; non-verbal IQ, 97; verbal IQ, 98
147098591
147098954
364
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12523.p1
6.1
M
ASD
NA
Full-scale IQ, 91; non-verbal IQ, 91; verbal IQ, 95
144549620
144556237
6618
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12524.p1
6.4
F
Autism
NA
Full-scale IQ, 146; non-verbal IQ, 130; verbal IQ, 166
143842689
143852119
9431
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12534.p1
7
F
Autism
NA
Full-scale IQ, 81; non-verbal IQ, 83; verbal IQ, 84
143842689
143852119
9431
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12607.p1
5.3
M
ASD
NA
Full-scale IQ, 105; non-verbal IQ, 104; verbal IQ, 104
144549620
144556237
6618
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12619.p1
7
M
Autism
NA
Full-scale IQ, 86; non-verbal IQ, 87; verbal IQ, 87
144549620
144556237
6618
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12629.p1
4.1
M
Autism
NA
Full-scale IQ, 110; non-verbal IQ, 113; verbal IQ, 101
144545104
144556237
11134
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12647.p1
6.8
M
Autism
NA
Full-scale IQ, 72; non-verbal IQ, 73; verbal IQ, 81
144549620
144556237
6618
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12691.p1
10.9
F
Autism
NA
Full-scale IQ, 34; non-verbal IQ, 32; verbal IQ, 39
147936627
147952176
15550
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12708.p1
10.3
M
Autism
NA
Full-scale IQ, 79; non-verbal IQ, 91; verbal IQ, 63
144545104
144556237
11134
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12741.p1
7.8
M
Autism
NA
Full-scale IQ, 74; non-verbal IQ, 87; verbal IQ, 60
147098591
147098954
364
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12851.p1
4.7
M
Autism
NA
Full-scale IQ, 37; non-verbal IQ, 49; verbal IQ, 14
144545104
144556237
11134
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12957.p1
9.5
F
Autism
NA
Full-scale IQ, 100; non-verbal IQ, 92; verbal IQ, 113
146354911
146359571
4661
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-13036.p1
11.9
M
Autism
NA
Full-scale IQ, 27; non-verbal IQ, 36; verbal IQ, 19
144545104
144556237
11134
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-13060.p1
6.8
M
Autism
NA
Full-scale IQ, 86; non-verbal IQ, 81; verbal IQ, 98
144545104
144563662
18559
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-13080.p1
8.3
F
Autism
NA
Full-scale IQ, 111; non-verbal IQ, 104; verbal IQ, 121
144549620
144556237
6618
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-13152.p1
7.3
M
Autism
NA
Full-scale IQ, 77; non-verbal IQ, 79; verbal IQ, 78
144730311
144847434
117124
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-13323.p1
4.7
M
Autism
NA
Full-scale IQ, 111; non-verbal IQ, 114; verbal IQ, 101
144549620
144556237
6618
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-control110036021624_
N/A
N/A
Control
No previous psychiatric history
146830412
147122983
292572
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlB485082_1007853837
N/A
N/A
Control
No previous psychiatric history
145237657
145703795
466139
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlB771393_1007874820
N/A
N/A
Control
No previous psychiatric history
144730311
144841191
110881
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlB776821_1007846118
N/A
N/A
Control
No previous psychiatric history
146016485
146087717
71233
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlB779111_1007874846
N/A
N/A
Control
No previous psychiatric history
147545604
147578824
33221
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlHABC_900471_900471
N/A
N/A
Control
No previous psychiatric history
146016541
146087717
71177
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlHABC_900954_900954
N/A
N/A
Control
No previous psychiatric history
144723696
145086457
362762
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlHABC_901183_901183
N/A
N/A
Control
No previous psychiatric history
144590456
144965940
375485
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlHABC_902546_902546
N/A
N/A
Control
No previous psychiatric history
144495265
144998634
503370
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlHABC_902588_902588
N/A
N/A
Control
No previous psychiatric history
145039496
145071131
31636
GRCh38
Deletion
No
krumm_15_ASD_discovery_controls-control11030.s1
N/A
Female
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
145996344
146028197
31854
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_controls-control11187.s1
N/A
Female
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
147213438
147284755
71318
GRCh38
Deletion
Yes
nord_11_ASD_discovery_controls-04C26419
Control
144109627
144151031
41405
Unknown
Deletion
sanders_11_ASD_discovery_controls-11030.s1
5.3
F
Control (matched sibling)
NA
NA
145874321
146030686
156366
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11064.s1
10
F
Control (matched sibling)
NA
NA
144542816
144811965
269150
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11117.s1
7.1
F
Control (matched sibling)
NA
NA
144549620
144556237
6618
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11117.s1
7.1
F
Control (matched sibling)
NA
NA
145082821
145092718
9898
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11167.s1
7.3
M
Control (matched sibling)
NA
NA
144549620
144556237
6618
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11227.s1
14.5
M
Control (matched sibling)
NA
NA
146827296
146859007
31712
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11401.s1
12.2
F
Control (matched sibling)
NA
NA
145300249
145305249
5001
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11495.s1
7.5
M
Control (matched sibling)
NA
NA
146827296
146859007
31712
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11543.s1
18.1
F
Control (matched sibling)
NA
NA
144549620
144556237
6618
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11634.s1
9.9
M
Control (matched sibling)
NA
NA
144549620
144556237
6618
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11827.s1
20
F
Control (matched sibling)
NA
NA
143842689
143852119
9431
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11905.s1
8.6
F
Control (matched sibling)
NA
NA
144549620
144556237
6618
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11916.s1
6.9
F
Control (matched sibling)
NA
NA
144549620
144556237
6618
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11946.s1
12.9
M
Control (matched sibling)
NA
NA
144545104
144556237
11134
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12048.s1
10.3
F
Control (matched sibling)
NA
NA
144549620
144556237
6618
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12060.s1
10.6
F
Control (matched sibling)
NA
NA
144549620
144556237
6618
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12096.s1
9.7
M
Control (matched sibling)
NA
NA
144549620
144556237
6618
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12118.s1
14.8
F
Control (matched sibling)
NA
NA
145055758
145081335
25578
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12197.s1
5.8
F
Control (matched sibling)
NA
NA
144549620
144556237
6618
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12235.s1
6.7
M
Control (matched sibling)
NA
NA
144545104
144556237
11134
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12426.s1
4.7
F
Control (matched sibling)
NA
NA
144549620
144556237
6618
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12555.s1
18.9
F
Control (matched sibling)
NA
NA
144308364
144322830
14467
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12574.s1
11.3
F
Control (matched sibling)
NA
NA
146535093
146565345
30253
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12619.s1
4.7
M
Control (matched sibling)
NA
NA
144549620
144556237
6618
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12647.s1
9.1
M
Control (matched sibling)
NA
NA
144549620
144556237
6618
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12652.s1
4.1
F
Control (matched sibling)
NA
NA
144549620
144556237
6618
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12669.s1
13.2
M
Control (matched sibling)
NA
NA
144549620
144556237
6618
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12708.s1
11.8
F
Control (matched sibling)
NA
NA
144549620
144556237
6618
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12759.s1
5.8
F
Control (matched sibling)
NA
NA
144549620
144556237
6618
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12785.s1
16.8
F
Control (matched sibling)
NA
NA
147935773
147954366
18594
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12892.s1
15.4
F
Control (matched sibling)
NA
NA
147390457
147422682
32226
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-13070.s1
11.6
M
Control (matched sibling)
NA
NA
144549620
144556237
6618
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-13187.s1
6
M
Control (matched sibling)
NA
NA
144549620
144556237
6618
GRCh38
Deletion
No
Cases
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
battaglia_13_DD/ID/ASD_discovery_cases-case13
FISH or qPCR
Maternal
Maternal
Possible multi-generational
Segregated
CYCSP44,SPANXN1
chong_14_DD/ID/ASD/MCA_discovery_cases-caseaCGH2159
Nimblegen aCGH
De novo
Unknown
Unknown
FMR1-AS1,FMR1
engchuan_15_ASD_discovery_cases-case13003_43
Unknown
engchuan_15_ASD_discovery_cases-case4203_1
Unknown
RN7SKP189
engchuan_15_ASD_discovery_cases-case5108_3
Unknown
engchuan_15_ASD_discovery_cases-case5277_3
Unknown
RRM2P4
engchuan_15_ASD_discovery_cases-case5305_3
Unknown
engchuan_15_ASD_discovery_cases-case6266_3
Unknown
gazzellone_14_ASD_discovery_cases-case550-3
Unknown
Unknown
Unknown
jiraanont_22_ADHD/DD/ID_discovery_cases-case1
PCR, Southern blotting
De novo
FMR1,MIR506,MIR513A1,MIR507,MIR514A2,MIR514A3,MIR514A1,MIR508,MIR510,MIR513A2,MIR509-1,MIR509-2,FMR1-AS1,MIR509-3,CXorf51A,CXorf51B,SLIRPP1,MIR513B,MIR513C,MIR514B,FMR1-IT1,RNU6-382P
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000082
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
RRM2P4,HNRNPCP10
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001113
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
FMR1,FMR1-IT1
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004316
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
RN7SKP149,PGBD4P6,MTND1P33,MTND2P39,SPANXN3,SLITRK4,HNRNPH1P2,SPANXN2
krumm_15_ASD_discovery_cases-case12803.p1
1M-Duov3
Maternal
Simplex
Segregated
MIR513C,MIR513B,MIR513A1,MIR513A2,MIR506,MIR507,MIR508,MIR514B,MIR509-2,MIR509-3,MIR509-1,MIR510,MIR514A1,MIR514A2,MIR514A3
marshall_08_ASD_discovery_cases-SK0234-003
qPCR, qmPCR
Unknown
NA
NA
marshall_08_ASD_discovery_cases-SK0320-003
qPCR, qmPCR
Unknown
NA
NA
RRM2P4
nord_11_ASD_discovery_cases-312-1
Maternal
SPANXN1
picinelli_16_ASD/ADHD/DD/ID_discovery_cases-patient1
Unknown
Multi-generational
Unknown
SLITRK2
prasad_12_ASD_discovery_cases-case130293
Unknown
Unknown
Unknown
0 genes
prasad_12_ASD_discovery_cases-case45554
Unknown
Multiplex
Unknown
0 genes
prasad_12_ASD_discovery_cases-case68785
Unknown
Unknown
Unknown
MIR892A,MIR892B
prasad_12_ASD_discovery_cases-case79449
Unknown
Unknown
Unknown
0 genes
prasad_12_ASD_discovery_cases-case93773L
Unknown
Unknown
Unknown
0 genes
prasad_12_ASD_discovery_cases-caseMM0234-5
Unknown
Unknown
Unknown
0 genes
sajan_13_ACC/CBLH/PMG_discovery_cases-case1183-0
Not tested by qPCR
Unknown
Unknown
Unknown
SPANXN1
sanders_11_ASD_discovery_cases-11047.p1
Unknown
Simplex (quad-proband matched)
Segregated
sanders_11_ASD_discovery_cases-11117.p1
Both parents
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11227.p1
Unknown
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11495.p1
Unknown
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11543.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11768.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11857.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11859.p1
Maternal
Simplex (trio)
NA
sanders_11_ASD_discovery_cases-11872.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11888.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11990.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12118.p1
Both parents
Simplex (quad-proband matched)
Not segregated
RN7SKP189
sanders_11_ASD_discovery_cases-12119.p1
Maternal
Simplex (trio)
NA
sanders_11_ASD_discovery_cases-12121.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12149.p1
Maternal
Simplex (trio)
NA
sanders_11_ASD_discovery_cases-12150.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12158.p1
Maternal
Simplex (trio)
NA
sanders_11_ASD_discovery_cases-12162.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12233.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12359.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12372.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12396.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12415.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12426.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12460.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12501.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12523.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12524.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12534.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12607.p1
Maternal
Simplex (trio)
NA
sanders_11_ASD_discovery_cases-12619.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12629.p1
Maternal
Simplex (trio)
NA
sanders_11_ASD_discovery_cases-12647.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12691.p1
Both parents
Simplex (quad-proband matched)
Not segregated
FMR1,FMR1-IT1
sanders_11_ASD_discovery_cases-12708.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12741.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12851.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12957.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-13036.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-13060.p1
Maternal
Simplex (trio)
NA
sanders_11_ASD_discovery_cases-13080.p1
Both parents
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-13152.p1
Maternal
Simplex (quad-proband unmatched)
Unknown
HNRNPCP10
sanders_11_ASD_discovery_cases-13323.p1
Maternal
Simplex (trio)
NA
Controls
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
engchuan_15_ASD_discovery_controls-control110036021624_
Unknown
engchuan_15_ASD_discovery_controls-controlB485082_1007853837
Unknown
SPANXN1
engchuan_15_ASD_discovery_controls-controlB771393_1007874820
Unknown
HNRNPCP10
engchuan_15_ASD_discovery_controls-controlB776821_1007846118
Unknown
MIR891A
engchuan_15_ASD_discovery_controls-controlB779111_1007874846
Unknown
engchuan_15_ASD_discovery_controls-controlHABC_900471_900471
Unknown
MIR891A
engchuan_15_ASD_discovery_controls-controlHABC_900954_900954
Unknown
HNRNPCP10,RN7SKP189
engchuan_15_ASD_discovery_controls-controlHABC_901183_901183
Unknown
HNRNPCP10
engchuan_15_ASD_discovery_controls-controlHABC_902546_902546
Unknown
HNRNPCP10
engchuan_15_ASD_discovery_controls-controlHABC_902588_902588
Unknown
RN7SKP189
krumm_15_ASD_discovery_controls-control11030.s1
Illumina 1M
Maternal
MIR892A,MIR892B,MIR891B,MIR891A
krumm_15_ASD_discovery_controls-control11187.s1
Illumina 1M
Maternal
MIR513A1,MIR513A2,MIR506,MIR507,MIR508,MIR514B,MIR509-2,MIR509-3,MIR509-1,MIR510,MIR514A1,MIR514A2,MIR514A3
nord_11_ASD_discovery_controls-04C26419
SPANXN1
sanders_11_ASD_discovery_controls-11030.s1
Maternal
Simplex (quad)
NA
MIR892C,MIR890,MIR888,MIR892A,MIR892B,MIR891B,MIR891A
sanders_11_ASD_discovery_controls-11064.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11117.s1
Both parents
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11117.s1
Both parents
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11167.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11227.s1
Unknown
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11401.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11495.s1
Unknown
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11543.s1
Both parents
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11634.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11827.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11905.s1
Both parents
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11916.s1
Both parents
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11946.s1
Unknown
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12048.s1
Both parents
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12060.s1
Both parents
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12096.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12118.s1
Both parents
Simplex (quad)
NA
RN7SKP189
sanders_11_ASD_discovery_controls-12197.s1
Both parents
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12235.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12426.s1
Both parents
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12555.s1
Paternal
Simplex (quad)
NA
RRM2P4
sanders_11_ASD_discovery_controls-12574.s1
Both parents
Simplex (quad)
NA
ELL2P4
sanders_11_ASD_discovery_controls-12619.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12647.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12652.s1
Both parents
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12669.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12708.s1
Both parents
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12759.s1
Both parents
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12785.s1
Paternal
Simplex (quad)
NA
FMR1,FMR1-IT1
sanders_11_ASD_discovery_controls-12892.s1
Both parents
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-13070.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-13187.s1
Maternal
Simplex (quad)
NA
No Animal Model Data Available