5p15.1CNV Type: Deletion-Duplication
Largest CNV size: 800000 bp
Statistics Box:
Number of Reports: 12
Number of Reports: 12
Summary Information
Summary statement in development
Additional Locus Information
References
Major Reports
Title
Author, Year
Report Class
CNV Type
Functional impact of global rare copy number variation in autism spectrum disorders.
Deletion
Copy number variation characteristics in subpopulations of patients with autism spectrum disorders.
Duplication
An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabili...
Deletion-Duplication
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
Relative burden of large CNVs on a range of neurodevelopmental phenotypes.
Duplication
Identification of single gene deletions at 15q13.3: further evidence that CHRNA7 causes the 15q13.3 microdeletion syndrome phenotype.
Duplication
A discovery resource of rare copy number variations in individuals with autism spectrum disorder.
Deletion-Duplication
Refinement and discovery of new hotspots of copy-number variation associated with autism spectrum disorder.
Duplication
Large-scale discovery of novel genetic causes of developmental disorders.
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
bremer_11_ASD_discovery_cases
223 ASD cases (164 sporadic cases, 27 familial cases. 3 adopted, 4 family history unavailable) recruited from neuropediatric units in Stockholm County and from child & adolescent psychiatric outpatient clinics in Sweden
223
25 syndromic cases (dysmorphic features and/or growth disorders and/or malformations) with IQ within normal range, 45 cases syndromic with MR (IQ < 70), 60 cases non-syndromic with normal IQ, 93 cases non-syndromic with MR
71.3% Male
800000
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
189460
10
2
12
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
19229
1
0
1
girirajan_11_ASD_discovery_cases
ASD cases with sporadic autism from the Simons Simplex Collection (SSC)
336
Diagnosis of ASD based on meeting criteria on ADOS, ADI-R, and expert clinical judgment. 246 cases with no intellectual disability, 90 cases with intellectual disability. Exclusion criteria: significant hearing, vision, or motor problems; significant birth complications; a diagnosis of ASD-related disorders, such as Fragile X; or having a relative (up to 3rd degree) with ASD or sibling showing ASD-related symptoms.
738801
0
1
1
girirajan_13a_ASD_discovery_cases
1979 simplex cases from the Simons Simplex Collection (SSC), 579 multiplex cases from AGRE.
2588
Diagnosis of ASD based on meeting criteria on the Autism Diagnostic Observation Schedule (ADOS) and on the Autism Diagnostic Interview, Revised (ADI-R)
NA
NA
763000
0
1
1
hoppman-chaney_12_CHRNA7_discovery_cases
Probands from a database of >15,000 patients tested in the Mayo Clinic Cytogenetics Laboratory from 2008-2011.
10
Developmental delay, intellectual disability, ASD, ADHD, and/or other non-neuropsychiatric features
Range, 5 weeks-7 years
90% Male
769000
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
699823
1
1
2
krumm_15_ASD_discovery_cases
Probands from the Simons Simplex Collection
2377
Diagnosis of ASD
N/A
N/A
58200
0
1
1
levy_11_ASD_discovery_cases
Autistic probands from 887 families from the Simons Simplex Collection (SSC)
858
ASD
87.06% Male
784474
0
1
1
pinto_10_ASD_discovery_cases
Autism Genome Project (AGP) consortium patient cohort from families with at least two ASD individuals
996
ASD (ADI-R and ADOS): strict, broad, or spectrum ASD
189461
5
0
5
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
115262
2
1
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
782509
2
4
6
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
133486
16
1
17
girirajan_11_ASD_discovery_controls
Control individuals ascertained by NIMH Genetics Initiative. DNA samples from these individuals were obtained from the Rutgers Univ. Cell & DNA Repository.
337
Control. Individuals screened specifically for eight mental health disorders.
738801
0
0
0
kaminsky_11_DD/ID/ASD_discovery_controls
Controls from the International Standards for Cytogenomic Arrays (ISCA) consortium
10118
Controls
NA
NA
NA
NA
NA
NA
krumm_15_ASD_discovery_controls
Unaffected siblings from quad families from the Simons Simplex Collection
1786
Control
N/A
N/A
114887
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
784474
0
1
1
nord_11_ASD_discovery_controls
Samples from 367 total control individuals (319 European American, 48 African American) used to test for differences in rare CNV prevalence compared with autism cases
123
Controls (no history of psychiatric symptoms by self-report)
30 yrs.
117003
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)
115262
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.
782509
5
3
8
Cases
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
bremer_11_ASD_discovery_cases
Swedish
aCGH
BAC 33K, BAC 38K , Agilent 244K, Agilent 180K
MLPA, FISH
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
girirajan_11_ASD_discovery_cases
aCGH
Custom microarray targeting 107 genomic hotspot regions (Roche NimbleGen Hotspot v1.0 array; 12 x 135K)
HMM
None
girirajan_13a_ASD_discovery_cases
NA
aCGH
Custom microarray with a high density of probes targeted to 1,367 regions with a susceptible genomic architecture
ADM-2
Agilent Genomic Workbench
None
hoppman-chaney_12_CHRNA7_discovery_cases
NA
aCGH
Agilent 4x44 K or Agilent 4x180K
Agilent DNA Analytics V4.0
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_15_ASD_discovery_cases
N/A
WES
CoNIFER, XHMM
Solid phase hybridization (Illumina 1M, 1 M Duo, or Omni 2.5)
levy_11_ASD_discovery_cases
aCGH
NimbleGen HD2
HMM
pinto_10_ASD_discovery_cases
European
Solid phase hybridization
Illumina Infinium 1M SNP microarray
QuantiSNP, iPattern
qPCR, long-range PCR (LR-PCR), MLPA, FISH, aCGH (Agilent 1M), array SNP (Affymetrix 500K)
prasad_12_ASD_discovery_cases
Canada
aCGH
Agilent 1M
ADM-2, DNAcopy (R Bioconductor)
DNA Analytics v4.0.85 (Agilent), DNAcopy
None
sanders_11_ASD_discovery_cases
White non-Hispanic, 74.5%; mixed, 9.3%, Asian, 4.3%, White Hispanic, 4.0%, African-American, 3.8%; other, 4.2&
Solid phase hybridization
Illumina 1M v1, Illumina 1M v3
PennCNV, QuantiSNP, GNOSIS
Controls
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
engchuan_15_ASD_discovery_controls
Caucasian
Solid phase hybridization
Illumina 1M
None
girirajan_11_ASD_discovery_controls
aCGH
Custom microarray targeting 107 genomic hotspot regions (Roche NimbleGen Hotspot v1.0 array; 12 x 135K)
HMM
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)
levy_11_ASD_discovery_controls
aCGH
NimbleGen HD2
HMM
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
bremer_11_ASD_discovery_cases-case26
4
M
ASD
Non-syndromic ASD, broad neuropsychiatric pehnotype familial case
IQ>70
15065728
15883800
818073
GRCh38
Duplication
Yes
engchuan_15_ASD_discovery_cases-case1163_3
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
17606517
17747373
140857
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case1338_301
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
17000255
17049332
49078
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case14235_2490
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
16110322
16251326
141005
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case14363_4770
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
17606517
17651280
44764
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case18118_302
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
17625635
17724693
99059
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case20141_1396001
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
17477703
17513285
35583
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case20188_1727001
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
17479673
17515827
36155
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case5100_4
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
17599468
17747373
147906
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case5453_4
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
17441518
17651280
209763
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case5455_3
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
15853830
15903915
50086
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case8413_201
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
17477703
17513285
35583
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case8699_201
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
17606517
17719728
113212
GRCh38
Deletion
No
fitzgerald_14_ASD/DD/ID_discovery_cases-case000037
N/A
N/A
N/A
Clinical profile N/A; CNV from Supplementary Table S43
N/A
16575196
16594425
19230
GRCh38
Deletion
No
girirajan_11_ASD_discovery_cases-Si158
11
M
Autism
ADOS score: 10. Vineland composite score: 72.
No mental retardation/intellectual disability. Full-scale IQ, 89; Verbal IQ, 83; Non-verbal IQ, 94.
15116610
15855411
738802
GRCh38
Duplication
No
girirajan_13a_ASD_discovery_cases-11989.p1
N/A
N/A
ASD
Diagnosis of ASD based on meeting criteria on the Autism Diagnostic Observation Schedule (ADOS) and on the Autism Diagnostic Interview, Revised (ADI-R)
N/A
15106891
15866891
760001
GRCh38
Duplication
No
hoppman-chaney_12_CHRNA7_discovery_cases-probandR
9 mos.
M
Other
Autism spectrum disorder: NA. Behavioral problems: NA. Seizures: NA. Dysmorphic facial features: mild hypertelorism. Other features: chronic otitis media. Family history: NA.
No developmental delay or cognitive disability
NA
NA
769000
Unknown
Duplication
No
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004162
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
15151553
15851376
699824
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005134
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
17726921
18415513
688593
GRCh38
Deletion
Yes
krumm_15_ASD_discovery_cases-case11892.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
16877608
16935808
58201
GRCh38
Duplication
Yes
levy_11_ASD_discovery_cases-11989.p1
NA
M
ASD
NA
NA
15086101
15870574
784474
GRCh38
Duplication
No
pinto_10_ASD_discovery_cases-case1163_3
NA
M
ASD
NA
NA
17606517
17747373
140857
GRCh38
Deletion
Yes
pinto_10_ASD_discovery_cases-case1338_301
NA
M
ASD
NA
NA
17000255
17049332
49078
GRCh38
Deletion
Yes
pinto_10_ASD_discovery_cases-case5100_4
NA
M
ASD
NA
NA
17599468
17747373
147906
GRCh38
Deletion
Yes
pinto_10_ASD_discovery_cases-case5453_4
NA
M
Autism
Lowfunctioning autism, language delay, no epilepsy, no dysmorphic features
Unable to complete IQ measure
17441518
17651280
209763
GRCh38
Deletion
Yes
pinto_10_ASD_discovery_cases-case5455_3
NA
M
ASD
NA
NA
15853830
15903915
50086
GRCh38
Deletion
Yes
prasad_12_ASD_discovery_cases-case57601
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
15907928
15958629
50702
Unknown
Deletion
No
prasad_12_ASD_discovery_cases-case88813
NA
F
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
16933765
17049026
115262
Unknown
Duplication
No
prasad_12_ASD_discovery_cases-case95657
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
15907928
15958629
50702
Unknown
Deletion
No
sanders_11_ASD_discovery_cases-11154.p1
12.8
M
Autism
NA
Full-scale IQ, 90; non-verbal IQ, 86; verbal IQ, 102
15893719
15913453
19735
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11660.p1
5
F
Autism
NA
Full-scale IQ, 58; non-verbal IQ, 60; verbal IQ, 63
17902808
17914500
11693
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11892.p1
6.9
M
Autism
NA
Full-scale IQ, 55; non-verbal IQ, 51; verbal IQ, 70
16877258
17031395
154138
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11989.p1
9.6
M
Autism
NA
Full-scale IQ, 89; non-verbal IQ, 94; verbal IQ, 83
15087682
15870191
782510
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12160.p1
8.3
M
Autism
NA
Full-scale IQ, 100; non-verbal IQ, 108; verbal IQ, 86
17024958
17031395
6438
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-13065.p1
5.6
M
Autism
NA
Full-scale IQ, 91; non-verbal IQ, 101; verbal IQ, 81
17970763
17989147
18385
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-control110036016566_
N/A
N/A
Control
No previous psychiatric history
17651280
17777031
125752
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-control110036024040_
N/A
N/A
Control
No previous psychiatric history
17599468
17715744
116277
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlB101412_1007873983
N/A
N/A
Control
No previous psychiatric history
17590444
17643908
53465
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlB260072_1007874538
N/A
N/A
Control
No previous psychiatric history
17515827
17643908
128082
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlB387047_1007874371
N/A
N/A
Control
No previous psychiatric history
17517331
17643908
126578
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlB419502_1007871739
N/A
N/A
Control
No previous psychiatric history
17590444
17643908
53465
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlB447204_1007875798
N/A
N/A
Control
No previous psychiatric history
18314494
18350927
36434
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlB526744_1007870373
N/A
N/A
Control
No previous psychiatric history
17590444
17687319
96876
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlB643061_1007875805
N/A
N/A
Control
No previous psychiatric history
17606517
17697688
91172
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlB644709_1007846503
N/A
N/A
Control
No previous psychiatric history
17399773
17486202
86430
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlB704658_1007874902
N/A
N/A
Control
No previous psychiatric history
17606517
17704052
97536
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlB773389_1007874336
N/A
N/A
Control
No previous psychiatric history
17590444
17643908
53465
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlB778166_1007875138
N/A
N/A
Control
No previous psychiatric history
17515827
17643908
128082
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlB854263_1007853990
N/A
N/A
Control
No previous psychiatric history
17606517
17747373
140857
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlHABC_900036_900036
N/A
N/A
Control
No previous psychiatric history
17606517
17687319
80803
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlHABC_900620_900620
N/A
N/A
Control
No previous psychiatric history
17598430
17643908
45479
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlHABC_901166_901166
N/A
N/A
Control
No previous psychiatric history
17606517
17709900
103384
GRCh38
Deletion
No
krumm_15_ASD_discovery_controls-control12415.s2
N/A
Female
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
16679946
16794833
114888
GRCh38
Duplication
Yes
levy_11_ASD_discovery_controls-11989.s1
NA
F
Control
NA
NA
15086101
15870574
784474
GRCh38
Duplication
No
nord_11_ASD_discovery_controls-04C27862
Control
16712516
16829518
117003
Unknown
Duplication
sanders_11_ASD_discovery_controls-11045.s1
5.1
M
Control (matched sibling)
NA
NA
17069545
17086194
16650
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11154.s1
9.9
F
Control (matched sibling)
NA
NA
15893719
15913453
19735
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11892.s1
9.1
F
Control (matched sibling)
NA
NA
16877258
17031395
154138
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11989.s1
8.1
F
Control (matched sibling)
NA
NA
15087682
15870191
782510
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-12360.s1
7.9
F
Control (matched sibling)
NA
NA
17680982
18038625
357644
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12361.s1
7.3
M
Control (matched sibling)
NA
NA
17030531
17064354
33824
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12596.s1
6.3
F
Control (matched sibling)
NA
NA
17798025
17849418
51394
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12964.s1
8.5
M
Control (matched sibling)
NA
NA
15391835
15411347
19513
GRCh38
Deletion
No
Cases
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
bremer_11_ASD_discovery_cases-case26
MLPA, FISH
Maternal
NA
NA
MARK2P5,LINC02149,FBXL7
engchuan_15_ASD_discovery_cases-case1163_3
Unknown
TAF11L12,TAF11L13,TAF11L14,H3.Y,LINC02223
engchuan_15_ASD_discovery_cases-case1338_301
Unknown
engchuan_15_ASD_discovery_cases-case14235_2490
Unknown
NACAP6,MARCH11
engchuan_15_ASD_discovery_cases-case14363_4770
Unknown
TAF11L12,TAF11L13,TAF11L14
engchuan_15_ASD_discovery_cases-case18118_302
Unknown
TAF11L13,TAF11L14,H3.Y,LINC02223
engchuan_15_ASD_discovery_cases-case20141_1396001
Unknown
TAF11L2,LINC02218
engchuan_15_ASD_discovery_cases-case20188_1727001
Unknown
TAF11L2,LINC02218
engchuan_15_ASD_discovery_cases-case5100_4
Unknown
TAF11L11,TAF11L12,TAF11L13,TAF11L14,H3.Y,LINC02223
engchuan_15_ASD_discovery_cases-case5453_4
Unknown
TAF11L2,TAF11L3,TAF11L4,TAF11L5,TAF11L6,TAF11L7,TAF11L8,TAF11L9,TAF11L10,TAF11L11,TAF11L12,TAF11L13,TAF11L14,LINC02218,LINC02217
engchuan_15_ASD_discovery_cases-case5455_3
Unknown
FBXL7
engchuan_15_ASD_discovery_cases-case8413_201
Unknown
TAF11L2,LINC02218
engchuan_15_ASD_discovery_cases-case8699_201
Unknown
TAF11L12,TAF11L13,TAF11L14,H3.Y,LINC02223
fitzgerald_14_ASD/DD/ID_discovery_cases-case000037
De novo
Unknown
Unknown
RETREG1
girirajan_11_ASD_discovery_cases-Si158
Unknown
Simplex
MARK2P5,LINC02149,FBXL7
girirajan_13a_ASD_discovery_cases-11989.p1
Unknown
Simplex
Unknown
MARK2P5,LINC02149,FBXL7
hoppman-chaney_12_CHRNA7_discovery_cases-probandR
Unknown
Unknown
Unknown
Unknown
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004162
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
MARK2P5,LINC02149,FBXL7
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005134
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Maternal
Unknown
Unknown
RPL36AP21,LINC02223
krumm_15_ASD_discovery_cases-case11892.p1
Illumina 1MDuo
Maternal
Simplex
Segregated
RPS26P28,MYO10
levy_11_ASD_discovery_cases-11989.p1
Maternal
Simplex
Not segregated
MARK2P5,LINC02149,FBXL7
pinto_10_ASD_discovery_cases-case1163_3
Affy5.0
maternal
NA
NA
TAF11L12,TAF11L13,TAF11L14,H3.Y,LINC02223
pinto_10_ASD_discovery_cases-case1338_301
Illumina550;Affy5.0
maternal
NA
NA
pinto_10_ASD_discovery_cases-case5100_4
Agilent1M
maternal
NA
NA
TAF11L11,TAF11L12,TAF11L13,TAF11L14,H3.Y,LINC02223
pinto_10_ASD_discovery_cases-case5453_4
Agilent1M
paternal
Simplex
NA
TAF11L2,TAF11L3,TAF11L4,TAF11L5,TAF11L6,TAF11L7,TAF11L8,TAF11L9,TAF11L10,TAF11L11,TAF11L12,TAF11L13,TAF11L14,LINC02218,LINC02217
pinto_10_ASD_discovery_cases-case5455_3
Agilent1M
maternal
NA
NA
FBXL7
prasad_12_ASD_discovery_cases-case57601
Unknown
Unknown
Unknown
FBXL7
prasad_12_ASD_discovery_cases-case88813
Unknown
Unknown
Unknown
MYO10
prasad_12_ASD_discovery_cases-case95657
Unknown
Unknown
Unknown
FBXL7
sanders_11_ASD_discovery_cases-11154.p1
Maternal
Simplex (quad-proband matched)
Not segregated
FBXL7
sanders_11_ASD_discovery_cases-11660.p1
Paternal
Simplex (trio)
NA
LINC02223
sanders_11_ASD_discovery_cases-11892.p1
Maternal
Simplex (quad-proband matched)
Not segregated
RPS26P28,RNU6-660P,MYO10
sanders_11_ASD_discovery_cases-11989.p1
Maternal
Simplex (quad-proband matched)
Not segregated
MARK2P5,LINC02149,FBXL7
sanders_11_ASD_discovery_cases-12160.p1
Paternal
Simplex (quad-proband unmatched)
Unknown
sanders_11_ASD_discovery_cases-13065.p1
Paternal
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-control110036016566_
Unknown
H3.Y,LINC02223
engchuan_15_ASD_discovery_controls-control110036024040_
Unknown
TAF11L11,TAF11L12,TAF11L13,TAF11L14,H3.Y,LINC02223
engchuan_15_ASD_discovery_controls-controlB101412_1007873983
Unknown
TAF11L8,TAF11L9,TAF11L10,TAF11L11,TAF11L12,TAF11L13,TAF11L14
engchuan_15_ASD_discovery_controls-controlB260072_1007874538
Unknown
TAF11L3,TAF11L4,TAF11L5,TAF11L6,TAF11L7,TAF11L8,TAF11L9,TAF11L10,TAF11L11,TAF11L12,TAF11L13,TAF11L14
engchuan_15_ASD_discovery_controls-controlB387047_1007874371
Unknown
TAF11L3,TAF11L4,TAF11L5,TAF11L6,TAF11L7,TAF11L8,TAF11L9,TAF11L10,TAF11L11,TAF11L12,TAF11L13,TAF11L14
engchuan_15_ASD_discovery_controls-controlB419502_1007871739
Unknown
TAF11L8,TAF11L9,TAF11L10,TAF11L11,TAF11L12,TAF11L13,TAF11L14
engchuan_15_ASD_discovery_controls-controlB447204_1007875798
Unknown
engchuan_15_ASD_discovery_controls-controlB526744_1007870373
Unknown
TAF11L8,TAF11L9,TAF11L10,TAF11L11,TAF11L12,TAF11L13,TAF11L14,H3.Y,LINC02223
engchuan_15_ASD_discovery_controls-controlB643061_1007875805
Unknown
TAF11L12,TAF11L13,TAF11L14,H3.Y,LINC02223
engchuan_15_ASD_discovery_controls-controlB644709_1007846503
Unknown
LINC02218,LINC02217
engchuan_15_ASD_discovery_controls-controlB704658_1007874902
Unknown
TAF11L12,TAF11L13,TAF11L14,H3.Y,LINC02223
engchuan_15_ASD_discovery_controls-controlB773389_1007874336
Unknown
TAF11L8,TAF11L9,TAF11L10,TAF11L11,TAF11L12,TAF11L13,TAF11L14
engchuan_15_ASD_discovery_controls-controlB778166_1007875138
Unknown
TAF11L3,TAF11L4,TAF11L5,TAF11L6,TAF11L7,TAF11L8,TAF11L9,TAF11L10,TAF11L11,TAF11L12,TAF11L13,TAF11L14
engchuan_15_ASD_discovery_controls-controlB854263_1007853990
Unknown
TAF11L12,TAF11L13,TAF11L14,H3.Y,LINC02223
engchuan_15_ASD_discovery_controls-controlHABC_900036_900036
Unknown
TAF11L12,TAF11L13,TAF11L14,H3.Y,LINC02223
engchuan_15_ASD_discovery_controls-controlHABC_900620_900620
Unknown
TAF11L11,TAF11L12,TAF11L13,TAF11L14
engchuan_15_ASD_discovery_controls-controlHABC_901166_901166
Unknown
TAF11L12,TAF11L13,TAF11L14,H3.Y,LINC02223
krumm_15_ASD_discovery_controls-control12415.s2
Illumina 1MDuo
Paternal
MYO10
levy_11_ASD_discovery_controls-11989.s1
Maternal
Simplex
NA
MARK2P5,LINC02149,FBXL7
nord_11_ASD_discovery_controls-04C27862
MYO10
sanders_11_ASD_discovery_controls-11045.s1
Paternal
Simplex (quad)
NA
BASP1
sanders_11_ASD_discovery_controls-11154.s1
Maternal
Simplex (quad)
NA
FBXL7
sanders_11_ASD_discovery_controls-11892.s1
Maternal
Simplex (quad)
NA
RPS26P28,RNU6-660P,MYO10
sanders_11_ASD_discovery_controls-11989.s1
Maternal
Simplex (quad)
NA
MARK2P5,LINC02149,FBXL7
sanders_11_ASD_discovery_controls-12360.s1
Maternal
Simplex (quad)
NA
LINC02223
sanders_11_ASD_discovery_controls-12361.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12596.s1
Paternal
Simplex (quad)
NA
LINC02223
sanders_11_ASD_discovery_controls-12964.s1
Maternal
Simplex (quad)
NA
No Animal Model Data Available