1q25.2CNV Type: Deletion-Duplication
Largest CNV size: 67265 bp
Statistics Box:
Number of Reports: 10
Number of Reports: 10
Summary Information
Summary statement in development
Additional Locus Information
References
Major Reports
Title
Author, Year
Report Class
CNV Type
Autism genome-wide copy number variation reveals ubiquitin and neuronal genes.
Duplication
Functional impact of global rare copy number variation in autism spectrum disorders.
Duplication
Paternally inherited cis-regulatory structural variants are associated with autism.
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
Rare de novo and transmitted copy-number variation in autistic spectrum disorders.
Duplication
A discovery resource of rare copy number variations in individuals with autism spectrum disorder.
Deletion-Duplication
Disruption of the ASTN2/TRIM32 locus at 9q33.1 is a risk factor in males for autism spectrum disorders, ADHD and other neurodevelopmental phenotypes.
Deletion
Performance of case-control rare copy number variation annotation in classification of autism.
Deletion-Duplication
Cases
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
brandler_18_ASD_discovery_cases
Affected individuals from the Relating Genes with Adolescent and Child Health (REACH) cohort (362 cases from 311 families; 54 multiplex, 243 simplex) and the Simons Simplex 1 (SSC1) cohort (518 cases from simplex quad families)
880
REACH cohort: 285 cases diagnosed with ASD, 43 cases diagnosed with PDD-NOS, 10 cases diagnosed with ADHD, and 24 cases presenting with speech delay, epilepsy, anxiety, or other related developmental disorders that were classified as cases for bioinformatics analyses; Simons Simplex Collection 1 (SSC1) cohort: all 518 cases were diagnosed with ASD
N/A
N/A
185884
1
0
1
brandler_18_ASD_replication_cases
Affected individuals from MSSNG cohort (1395 cases from 1187 families) and the Simons Simplex 2 (SSC2) cohort (584 cases from simplex quad families)
1979
Cases diagnosed with ASD
N/A
N/A
36748
2
0
2
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
145147
1
4
5
glessner_09_ASD_discovery_cases
Autism Case-Control (ACC) case cohort: 54% from simplex families, 46% from multiplex families
859
859 autism (ADI). 708 autism, 124 ASD, 27 not autism (based on ADOS)
Range, 2-21
81.8% Male
43120
0
3
3
glessner_09_ASD_replication_cases
Autism Genetic Resource Exchange (AGRE) case cohort: 5% from simplex families, 95% from multiplex families
1336
1202 autism, 134 ASD (AGRE status). 775 autism, 171 ASD, 76 not ASD or autism (based on ADOS)
Mean, 9.2 5.3
78.7% Male
43120
0
3
3
krumm_15_ASD_discovery_cases
Probands from the Simons Simplex Collection
2377
Diagnosis of ASD
N/A
N/A
57682
0
1
1
lahbib_18_ASD/ID_discovery_cases
Proband from a consanguineous Tunisian family who was referred to the Department of Child and Adolescent Neurology of Tunis for delayed psychomotor development
1
ASD (results following evaluation with ADI-R performed at 12 years of age were consistent with a diagnosis of PDD-NOS, corresponding to a diagnosis of ASD according to DSM-5), severe intellectual disability, and hearing impairment
13 years
Male
12693
0
1
1
levy_11_ASD_discovery_cases
Autistic probands from 887 families from the Simons Simplex Collection (SSC)
858
ASD
87.06% Male
67265
0
1
1
lionel_13_ASD/ADHD/DD/ID_discovery_cases
Individuals referred for postnatal genetic testing across 10 different sites, including 64,114 subjects with neurodevelopmental disorders, from Alberta Children's Hospital, BBGRE, Boston Children's Hospital, Credit Valley Hospital, the Hospital for Sick Children, Italian diagnostic laboratories, The Mayo Clinic, Odense University Hospital, Signature Genomics, and The Centre for Applied Genomics
89985
64,114 cases with neurodevelopmental disorders (including ASD, ADHD, developmental delay, and/or intellectual disability); 25,871 cases with non-neurodevelopmental disorders (multiple congential anomalies, etc.)
N/A
N/A
1225762
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
44125
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
146008
1
4
5
rosenfeld_10_non-ASD_discovery_cases
Samples submitted between 3/2004 and 7/2008 that did not have ASD as indication for study (Signature Genomic Labs, Spokane, WA)
21219
Controls (no diagnosis or indication of ASD)
3
0
3
sanders_11_ASD_discovery_cases
Autistic probands from the Simons Simplex Collection (SSC). 872 probands in quartet families, 272 probands in trios.
1124
ASD diagnosis: 89.5% autism; 8.5% PDD-NOS, 2% Asperger syndrome. Mean full-scale IQ 85.1 1.5 (mean verbal IQ, 81.9 1.7; mean non-verbal IQ, 88.4 1.4)
Mean, 9.1 yrs.
86.1% Male
57780
3
6
9
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
43120
0
2
2
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
138091
0
1
1
krumm_15_ASD_discovery_controls
Unaffected siblings from quad families from the Simons Simplex Collection
1786
Control
N/A
N/A
57682
0
1
1
levy_11_ASD_discovery_controls
Unaffected siblings of autistic probands from 887 families from the Simons Simplex Collection (SSC)
863
Control
47.97% Male
67265
0
1
1
lionel_13_ASD/ADHD/DD/ID_discovery_controls
Individuals from population-based control cohorts and non-neurodevelopmental disorder studies from Ontario ARCTIC, POPGEN, Ottawa Heart Institute, HapMap Phase 3, Starr County Diabetes study, Geneva NHS/HPFS Diabetes study, ISC, OPGP, Population Diagnostics, EDIC Diabetes study, WTCCC, SAGE, Health ABC, KORA, COGEND, Shaikh et al., Cooper et al., Fernandez et al., and Vrijenhoek et al
44085
Control (individuals without neurodevelopmental disorders)
N/A
N/A
178860
0
1
1
prasad_12_ASD_discovery_controls
PDx controls [1000 DNA samples from reportedly healthy donors (50.2% male) from BioServe (Beltsville, MD)] and 4139 in-house controls previously reported in Krawcak et al. 2006, Stewart et al. 2009, and Bierut et al. 2010. CNVs identified in controls were used to define rare ASD-specific CNVs.
5139
Control
NA
NA (PDx controls 50.2% male)
146008
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.
57780
2
4
6
Cases
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
brandler_18_ASD_discovery_cases
N/A
WGS
Illumina HiSeq X10 or HiSeq 2500
ForestSV, Lumpy, Manta, Mobster, SV2
PCR, array SNP
brandler_18_ASD_replication_cases
N/A
WGS
Illumina HiSeq X10
ForestSV, Lumpy, Manta, Mobster, SV2
None
engchuan_15_ASD_discovery_cases
Caucasian
Solid phase hybridization
Illumina 1M
None
glessner_09_ASD_discovery_cases
European
Solid phase hybridization
HumanHap550 BeadChip
PennCNV
qPCR, MLPA, array SNP
glessner_09_ASD_replication_cases
European
Solid phase hybridization
HumanHap550 BeadChip
PennCNV
qPCR, MLPA, array SNP
krumm_15_ASD_discovery_cases
N/A
WES
CoNIFER, XHMM
Solid phase hybridization (Illumina 1M, 1 M Duo, or Omni 2.5)
lahbib_18_ASD/ID_discovery_cases
Tunisian
Solid phase hybridization
Illumina Human Omni Express
QuantiSNP, PennCNV
None
levy_11_ASD_discovery_cases
aCGH
NimbleGen HD2
HMM
lionel_13_ASD/ADHD/DD/ID_discovery_cases
N/A
aCGH, array SNP, solid phase hybridization
Multiple platforms (Agilent, Affymetrix, Illumina)
None
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
rosenfeld_10_non-ASD_discovery_cases
aCGH
BACs aCGH, whole-genome oligo-aCGH
FISH
sanders_11_ASD_discovery_cases
White non-Hispanic, 74.5%; mixed, 9.3%, Asian, 4.3%, White Hispanic, 4.0%, African-American, 3.8%; other, 4.2&
Solid phase hybridization
Illumina 1M v1, Illumina 1M v3
PennCNV, QuantiSNP, GNOSIS
Controls
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
engchuan_15_ASD_discovery_controls
Caucasian
Solid phase hybridization
Illumina 1M
None
glessner_09_ASD_discovery_controls
Caucasian
Solid phase hybridization
HumanHap550 BeadChip
PennCNV
glessner_09_ASD_replication_controls
Caucasian
Solid phase hybridization
HumanHap550 BeadChip
PennCNV
kanduri_15_ASD_discovery_controls
Finnish
Solid phase hybridization
Illumina Infinium HD Human610-Quad BeadChip
QuantiSNP, PennCNV
Illumina BeadStudio
None
krumm_15_ASD_discovery_controls
N/A
WES
CoNIFER, XHMM
Solid phase hybridization (Illumina 1M, 1 M Duo, or Omni 2.5)
levy_11_ASD_discovery_controls
aCGH
NimbleGen HD2
HMM
lionel_13_ASD/ADHD/DD/ID_discovery_controls
N/A
aCGH, array SNP, solid phase hybridization
Multiple platforms (Agilent, Affymetrix, Illumina)
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
brandler_18_ASD_discovery_cases-caseREACH000498
N/A
F
Epilepsy
Case from REACH cohort
176717961
176903845
185885
GRCh38
Deletion
Yes
brandler_18_ASD_replication_cases-caseAU2248301
N/A
M
ASD
Case from MSSNG cohort
179918684
179955431
36748
GRCh38
Deletion
No
brandler_18_ASD_replication_cases-caseAU2248302
N/A
M
ASD
Case from MSSNG cohort
179918684
179955431
36748
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case14179_2900
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
179354784
179421013
66230
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case1966_301
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
176264796
176307916
43121
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case5256_3
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
177837703
177982850
145148
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case5357_4
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
178481169
178525293
44125
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case8672_201
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
176264796
176307916
43121
GRCh38
Duplication
No
glessner_09_ASD_discovery_cases-3849.203
NA
ASD
NA
NA
176264796
176307916
43121
GRCh38
Duplication
Yes
glessner_09_ASD_discovery_cases-705-110-10028
NA
ASD
NA
NA
176264796
176307916
43121
GRCh38
Duplication
No
glessner_09_ASD_discovery_cases-C224003
NA
ASD
NA
NA
176264796
176307916
43121
GRCh38
Duplication
No
glessner_09_ASD_replication_cases-AU061404
NA
ASD
NA
NA
176264796
176307916
43121
GRCh38
Duplication
No
glessner_09_ASD_replication_cases-AU1076303
NA
ASD
NA
NA
176264796
176307916
43121
GRCh38
Duplication
No
glessner_09_ASD_replication_cases-AU1631301
NA
ASD
NA
NA
176264796
176307916
43121
GRCh38
Duplication
No
krumm_15_ASD_discovery_cases-case11152.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
179353584
179411266
57683
GRCh38
Duplication
Yes
lahbib_18_ASD/ID_discovery_cases-case1
13 yrs.
M
ASD and intellectual disability
Birth/neonatal history: born at term by spontaneous vaginal delivery following uncomplicated pregnancy; birth weight of 3650 g, length of 50 cm, head circumference of 35 cm. Developmental milestones: delayed psychomotor development noted at 5 months (hypotonia and loss of head control); sitting at 18 months, walking at 20 months; severe language delay. Language and communication evaluation: expressive language delay (expressive language limited to sounds and some bilateral syllables). Motor and musculoskeletal evaluation: normal and autonomous walking at 5 years. Behavioral/psychiatric evaluation: heteroaggressive behavior with a high degree of frustration; scores of 33 on the B subscale (threshold of 10), 14 on the C subscale (threshold of 7), and 2 on the D subscale (threshold of 3) on the ADI-R performed at 12 years of age revealed significant impairment in social interaction and verbal and non-verbal communication without significant restricted interests ot stereotyped patterns of behavior consistent with a diagnosis of PDD-NOS (corresponding to a diagnosis of ASD according to DSM-5). EEG: normal EEG. Brain imaging: normal brain MRI. Visual evaluation: good eye pursuit. Auditory evaluation: moderate hearing impairment noted at 3 years of age (brainstem evoked response thresholds of 70 dB and 40 dB in left and right ears, respectively); brainstem evoked response performed at 5 years showed bilateral profound hearing loss (threshold of 100 dB). Additional medical history: sphincter control disorder (primary enuresis), geophagy, drooling. Dysmorphic features: large ears, thin lips. Family history: first child of first-degree cousins of Tunisian ethnicity; both parents (who are heterozygous for the 2p11.2 deletion) and the case's brother (who does not carry the 2p11.2 deletion but does carry the 1q25.2 duplication) are unaffected.
Severe intellectual disability (diagnosis based on neuropsychological assessment at 5 years of age)
179257416
179270109
12694
GRCh38
Duplication
No
levy_11_ASD_discovery_cases-11152.p1
NA
M
ASD
NA
NA
179353663
179420927
67265
GRCh38
Duplication
No
lionel_13_ASD/ADHD/DD/ID_discovery_cases-case61
N/A
M
Developmental delay and epilepsy
Agenesis of the corpus callosum, simplified gyral pattern and seizures, developmental delay and history of failure to thrive, microcephaly, feeding difficulties, multiple congenital anomalies
Developmental delay
176355547
177581309
1225763
GRCh38
Deletion
No
pinto_10_ASD_discovery_cases-case5357_4
NA
M
ASD
NA
NA
178481169
178525293
44125
GRCh38
Duplication
Yes
prasad_12_ASD_discovery_cases-case102595
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
176073813
176219820
146008
Unknown
Deletion
No
prasad_12_ASD_discovery_cases-case103953
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
176715805
176764296
48492
Unknown
Duplication
No
prasad_12_ASD_discovery_cases-case107204L
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
174499286
174551286
52001
Unknown
Duplication
No
prasad_12_ASD_discovery_cases-case146450L
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
176393508
176413124
19617
Unknown
Duplication
No
prasad_12_ASD_discovery_cases-case62083
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
174499286
174544251
44966
Unknown
Duplication
No
sanders_11_ASD_discovery_cases-11152.p1
6.7
M
Autism
NA
Full-scale IQ, 57; non-verbal IQ, 61; verbal IQ, 57
179354784
179412564
57781
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11374.p1
8.8
M
Autism
NA
Full-scale IQ, 116; non-verbal IQ, 112; verbal IQ, 120
176264796
176307916
43121
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11536.p1
5.8
M
ASD
NA
Full-scale IQ, 98; non-verbal IQ, 101; verbal IQ, 95
178952166
178958292
6127
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11569.p1
9.1
F
Autism
NA
Full-scale IQ, 59; non-verbal IQ, 67; verbal IQ, 45
176264796
176307916
43121
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11709.p1
6.8
F
Autism
NA
Full-scale IQ, 58; non-verbal IQ, 62; verbal IQ, 59
178690798
178707830
17033
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11806.p1
4.1
M
Autism
NA
Full-scale IQ, 105; non-verbal IQ, 106; verbal IQ, 102
179257416
179275588
18173
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12266.p1
5.7
M
Autism
NA
Full-scale IQ, 58; non-verbal IQ, 65; verbal IQ, 54
178690798
178707830
17033
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12661.p1
8.4
F
Autism
NA
Full-scale IQ, 48; non-verbal IQ, 59; verbal IQ, 33
178690798
178705692
14895
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-13199.p1
15.2
F
Autism
NA
Full-scale IQ, 105; non-verbal IQ, 110; verbal IQ, 97
176264796
176307916
43121
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
engchuan_15_ASD_discovery_controls-controlHABC_900106_900106
N/A
N/A
Control
No previous psychiatric history
176264796
176307916
43121
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlHABC_902440_902440
N/A
N/A
Control
No previous psychiatric history
176264796
176307916
43121
GRCh38
Duplication
No
kanduri_15_ASD_discovery_controls-control_split1287
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
177463978
177602068
138091
Unknown
Duplication
No
krumm_15_ASD_discovery_controls-control11152.s1
N/A
Female
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
179353584
179411266
57683
GRCh38
Duplication
Yes
levy_11_ASD_discovery_controls-11152.s1
NA
F
Control
NA
NA
179353663
179420927
67265
GRCh38
Duplication
No
lionel_13_ASD/ADHD/DD/ID_discovery_controls-CM25
N/A
M
Control
Control from NHGRI dataset
176725102
176903961
178860
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11152.s1
8.8
F
Control (matched sibling)
NA
NA
179354784
179412564
57781
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11252.s1
11.4
M
Control (matched sibling)
NA
NA
177849651
177852231
2581
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11364.s1
8.8
F
Control (matched sibling)
NA
NA
178160764
178180065
19302
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11374.s1
18.1
F
Control (matched sibling)
NA
NA
176264796
176307916
43121
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11569.s1
5.6
M
Control (matched sibling)
NA
NA
176264796
176307916
43121
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-12661.s1
11.2
F
Control (matched sibling)
NA
NA
178690798
178705692
14895
GRCh38
Deletion
No
Cases
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
brandler_18_ASD_discovery_cases-caseREACH000498
PCR or SNP data validation
Maternal
PAPPA2,ASTN1
brandler_18_ASD_replication_cases-caseAU2248301
No validation step reported
Paternal
TOR1AIP1,CEP350
brandler_18_ASD_replication_cases-caseAU2248302
No validation step reported
Paternal
TOR1AIP1,CEP350
engchuan_15_ASD_discovery_cases-case14179_2900
Unknown
AXDND1,SOAT1
engchuan_15_ASD_discovery_cases-case1966_301
Unknown
engchuan_15_ASD_discovery_cases-case5256_3
Unknown
SEC16B,CRYZL2P-SEC16B
engchuan_15_ASD_discovery_cases-case5357_4
Unknown
CLEC20A,TEX35,RASAL2
engchuan_15_ASD_discovery_cases-case8672_201
Unknown
glessner_09_ASD_discovery_cases-3849.203
qPCR
Unknown
Unknown
NA
glessner_09_ASD_discovery_cases-705-110-10028
Unknown
Unknown
NA
glessner_09_ASD_discovery_cases-C224003
Unknown
Unknown
NA
glessner_09_ASD_replication_cases-AU061404
Unknown
Unknown
NA
glessner_09_ASD_replication_cases-AU1076303
Unknown
Unknown
NA
glessner_09_ASD_replication_cases-AU1631301
Unknown
Unknown
NA
krumm_15_ASD_discovery_cases-case11152.p1
Illumina 1M
Maternal
Simplex
Not segregated (CNV in unaffected sibling)
AXDND1,SOAT1
lahbib_18_ASD/ID_discovery_cases-case1
Unknown
Simplex
Not segregated
levy_11_ASD_discovery_cases-11152.p1
Maternal
Simplex
Not segregated
AXDND1,SOAT1
lionel_13_ASD/ADHD/DD/ID_discovery_cases-case61
De novo
MORF4L1P7,PTP4A1P7,MIR488,LINC01645,PAPPA2,ASTN1,BRINP2
pinto_10_ASD_discovery_cases-case5357_4
Agilent1M
maternal
NA
NA
CLEC20A,TEX35,RASAL2
prasad_12_ASD_discovery_cases-case102595
Unknown
Unknown
Unknown
SEC16B
prasad_12_ASD_discovery_cases-case103953
Unknown
Unknown
Unknown
C1orf49
prasad_12_ASD_discovery_cases-case107204L
Unknown
Unknown
Unknown
0 genes
prasad_12_ASD_discovery_cases-case146450L
Unknown
Unknown
Unknown
RASAL2
prasad_12_ASD_discovery_cases-case62083
Unknown
Unknown
Unknown
0 genes
sanders_11_ASD_discovery_cases-11152.p1
Maternal
Simplex (quad-proband matched)
Not segregated
AXDND1,SOAT1
sanders_11_ASD_discovery_cases-11374.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11536.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11569.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11709.p1
Paternal
Simplex (trio)
NA
sanders_11_ASD_discovery_cases-11806.p1
Maternal
Simplex (trio)
NA
sanders_11_ASD_discovery_cases-12266.p1
Paternal
Simplex (trio)
NA
sanders_11_ASD_discovery_cases-12661.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-13199.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-controlHABC_900106_900106
Unknown
engchuan_15_ASD_discovery_controls-controlHABC_902440_902440
Unknown
kanduri_15_ASD_discovery_controls-control_split1287
Unknown
Intergenic CNV: nearest genes, BRINP2(dist=212420),SEC16B(dist=296174)
krumm_15_ASD_discovery_controls-control11152.s1
Illumina 1M
Maternal
AXDND1,SOAT1
levy_11_ASD_discovery_controls-11152.s1
Maternal
Simplex
NA
AXDND1,SOAT1
lionel_13_ASD/ADHD/DD/ID_discovery_controls-CM25
Unknown
PAPPA2,ASTN1
sanders_11_ASD_discovery_controls-11152.s1
Maternal
Simplex (quad)
NA
AXDND1,SOAT1
sanders_11_ASD_discovery_controls-11252.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11364.s1
Paternal
Simplex (quad)
NA
RASAL2
sanders_11_ASD_discovery_controls-11374.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11569.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12661.s1
Paternal
Simplex (quad)
NA
No Animal Model Data Available