11p11.2CNV Type: Deletion-Duplication
Largest CNV size: 156252 bp
Statistics Box:
Number of Reports: 15
Number of Reports: 15
Summary Information
Summary statement in development
Additional Locus Information
References
Major Reports
Title
Author, Year
Report Class
CNV Type
An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabili...
Deletion-Duplication
Contribution of copy number variants involving nonsense-mediated mRNA decay pathway genes to neuro-developmental disorders.
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
Craniofacial dysmorphism and developmental disorders among children with chromosomal microdeletions and duplications of unknown significance.
Deletion
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.
Deletion
Identification of small exonic CNV from whole-exome sequence data and application to autism spectrum disorder.
Deletion-Duplication
Refining analyses of copy number variation identifies specific genes associated with developmental delay.
Deletion-Duplication
Investigation of 15q11-q13, 16p11.2 and 22q13 CNVs in autism spectrum disorder Brazilian individuals with and without epilepsy.
Deletion
Performance of case-control rare copy number variation annotation in classification of autism.
Deletion-Duplication
Rare Inherited and De Novo CNVs Reveal Complex Contributions to ASD Risk in Multiplex Families.
Duplication
Use of clinical chromosomal microarray in Chinese patients with autism spectrum disorder-implications of a copy number variation involving DPP10.
Duplication
Paternally inherited cis-regulatory structural variants are associated with autism.
Deletion
Cases
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
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
4016
1
0
1
coe_14_ASD/DD/ID_discovery_cases
Primarily pediatric cases with intellectual disability, developmental delay, and/or ASD (cohort consists of 13,318 previously unpublished cases and 15,767 cases originally published in Cooper et al., Nature Genetics 2011); annotated CNVs extracted from Table 1 ("New CNVs") and Supplementary Table 2 ("Newly Significant Genomic Disorders").
29085
Intellectual disability, developmental delay, and/or ASD
N/A
N/A
2080000
6
2
8
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
527254
3
2
5
gannon_11_ASD/DD_discovery_cases
Children seen from 2007 to 2010 at Univ. of South Alabama Autism Diagnostic Clinic
187
Autism spectrum disorder (ASD; diagnosis made using DSM-IV criteria & AODS) and/or global developmental delay; cases evaluated for craniofacial dysmorphism
Mean age, ~44 mos.
~82% Male
NA
1
0
1
girirajan_13a_ASD_discovery_cases
1979 simplex cases from the Simons Simplex Collection (SSC), 579 multiplex cases from AGRE.
2588
Diagnosis of ASD based on meeting criteria on the Autism Diagnostic Observation Schedule (ADOS) and on the Autism Diagnostic Interview, Revised (ADI-R)
NA
NA
1139000
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
1984547
3
3
6
krumm_13_ASD_discovery_cases
Probands from quad families ascertained as part of the Simons Simplex Collection (SSC); CNVs detected using data from four previously published exome sequencing studies (O'Roak et al., 2011; Iossifov et al., 2012; O'Roak et al., 2012; Sanders et al., 2012)
411
Diagnosis of ASD. Social Responsiveness Scale (SRS) used as a quantitative measure of social deficits
N/A
81.265% Male
3211
1
0
1
krumm_15_ASD_discovery_cases
Probands from the Simons Simplex Collection
2377
Diagnosis of ASD
N/A
N/A
1125204
2
0
2
leppa_16_ASD_discovery_cases
Children affected with ASD from 1,464 families from the Autism Genetic Resource Exchange (AGRE)
1764
Diagnosis according to ADOS and ADI-R
N/A
N/A
700000
0
1
1
mak_17_ASD_discovery_cases
Chinese patients diagnosed with ASD recruited from a child assessment center (Department of Pediatrics and Adolescent Medicine, the University of Hong Kong) between January 2011 and August 2014.
258
Diagnosis of ASD made using DSM-IV-TR or DSM-V; tools such as CARS, CHAT-23 modified, ADI-R, or ADOS were used in difficult cases
Range, 1.5-25 years
83.33% Male
290000
0
1
1
moreira_14_ASD/EP_discovery_cases
ASD cases ascertained at the "Centro de Pesquisa sobre o Genoma Humano e Celulas Tronco" (CEGH-Cel), IB-USP, for CNVs affecting 15q13.3, 16p11.2, and 22q13.33 regions
531
ASD cases without (N=453) or with epilepsy (N=78). Diagnosis of ASD according to DSM-IV crtieria by psychiatrists from Institutio de Psiquiatria, Hospital das Clinicas-Universidade de Sao Paulo (IPq-USP); whenever possible, an interview based on ADI-R and CARS was applied. Diagnosis of epilepsy based on occurrence of at least two unprovoked seizure episodes occurring more than 24 hours apart.
N/A
N/A
587000
1
0
1
nguyen_13_DD/ID/MCA/ASD_discovery_cases
Patients from the Developmental Gene Anatomy Project at Harvard Medical School (DGAP), the Developmental Gene Discovery Project at Georgia Health Sciences University (DGDP), the National Institute of General Medical Sciences Human Genetic Cell Repository (NIGMS), the Signature Genomic Laboratories Genoglyphix Chromosome Aberration Database, and DECIPHER
57365
Predominant cohort diagnosis of developmental delay/intellectual disability and/or mulitple congenital anomalies (MCA); 5 cases with additional diagnosis of autism/ASD
N/A
N/A
488889
0
1
1
poultney_13_ASD_discovery_cases
ASD cases of European ancestry from AGRE retained after filtering (original cohort size of 432 cases)
299
Cases diagnosed with ASD
N/A
79.86% Male (before filtering)
17171
2
1
3
prasad_12_ASD_discovery_cases
Unrelated ASD cases recruited from three Canadian sites (Hospital for Sick Children, McMaster University, and Memorial University of Newfoundland); the majority of cases had been previously genotyped with results published in Marshall et al., 2008 and Pinto et al., 2010. 20 cases from initial cohort of 696 were excluded from further analysis (due to CNVs > 5 Mb).
676
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS
NA
82.84% Male
79106
3
1
4
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
156252
10
28
38
Controls
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
coe_14_ASD/DD/ID_discovery_controls
Adult population controls (cohort consists of 11,255 new controls and 8329 controls originally published in Cooper et al., Nature Genetics 2011); annotated CNVs extracted from Table 1 ("New CNVs") and Supplementary Table 2 ("Newly Significant Genomic Disorders").
19584
Control
N/A
N/A
2080000
0
0
0
engchuan_15_ASD_discovery_controls
Platform-matched controls from three large studies: SAGE (Study of Addiction Genetics and Environment), Ontario Colorectal Cancer study, and HABC (Health Aging and Body Composition)
2342
Controls; subjects had no previous psychiatric history
N/A
46.67% Male
443392
1
5
6
kaminsky_11_DD/ID/ASD_discovery_controls
Controls from the International Standards for Cytogenomic Arrays (ISCA) consortium
10118
Controls
NA
NA
NA
NA
NA
NA
krumm_13_ASD_discovery_controls
Unaffected siblings of ASD probands from quad families ascertained as part of the Simons Simplex Collection (SSC); CNVs detected using data from four previously published exome sequencing studies (O'Roak et al., 2011; Iossifov et al., 2012; O'Roak et al., 2012; Sanders et al., 2012)
411
Control (unaffected siblings of ASD probands). Social Responsiveness Scale (SRS) used as a quantitative measure of social deficits
N/A
46.47% Male
0
0
0
0
krumm_15_ASD_discovery_controls
Unaffected siblings from quad families from the Simons Simplex Collection
1786
Control
N/A
N/A
0
0
0
0
nguyen_13_DD/ID/MCA/ASD_discovery_controls
Control data from the Database of Genomic Variants (DGV, n=12,145) and a published dataset of 8,329 individuals from Moriarty et al., 1998.
20474
Control
N/A
N/A
N/A
N/A
N/A
N/A
poultney_13_ASD_discovery_controls
Controls matched for European ancestry from NIMH and CEPH retained after filtering (original cohort size of 379 controls)
260
Control
N/A
47.49% Male (before filtering)
67996
4
1
5
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)
79106
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.
118713
6
17
23
Cases
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
brandler_18_ASD_replication_cases
N/A
WGS
Illumina HiSeq X10
ForestSV, Lumpy, Manta, Mobster, SV2
None
coe_14_ASD/DD/ID_discovery_cases
N/A
aCGH
N/A
None
engchuan_15_ASD_discovery_cases
Caucasian
Solid phase hybridization
Illumina 1M
None
gannon_11_ASD/DD_discovery_cases
Gulf Coast of Alabama, Mississippi, & Florida
aCGH
Genome-wide oligo array with 44K platform
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
kaminsky_11_DD/ID/ASD_discovery_cases
NA
aCGH
Agilent 44K, Agilent 105K
Feature Extraction, DNA Analytics
FISH, qPCR, MLPA, aCGH, standard G-banded chromosome analysis
krumm_13_ASD_discovery_cases
N/A
WES
Whole exome sequencing platforms used in four recent publications (O'Roak et al., 2011; Sanders et al., 2012; O'Roak et al., 2012, and Iossifov et al., 2012)
DNACopy, CGHCall
CoNIFER
None
krumm_15_ASD_discovery_cases
N/A
WES
CoNIFER, XHMM
Solid phase hybridization (Illumina 1M, 1 M Duo, or Omni 2.5)
leppa_16_ASD_discovery_cases
N/A
Solid phase hybridization
Illumina 550v1 and 550v3, Omni-1.0-B and -H, Omni 2.5
PennCNV, QuantiSNP, GNOSIS
GenomeStudio, CNVision
None
mak_17_ASD_discovery_cases
Chinese
aCGH
NimbleGen CGX-135K or Agilent-CGX 60K
None
moreira_14_ASD/EP_discovery_cases
Ethnically-mixed Brazilian
Array SNP
Various Affymetrix platforms
None
nguyen_13_DD/ID/MCA/ASD_discovery_cases
N/A
aCGH
SignatureChip BACs aCGH, SignatureChip Oligo whole-genome microarray
FISH
poultney_13_ASD_discovery_cases
European
WES
Agilent SureSelect Human All Exon v.2
XHMM
None
prasad_12_ASD_discovery_cases
Canada
aCGH
Agilent 1M
ADM-2, DNAcopy (R Bioconductor)
DNA Analytics v4.0.85 (Agilent), DNAcopy
None
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
coe_14_ASD/DD/ID_discovery_controls
N/A
aCGH, solid phase hybridization
Multiple platforms used (including HumanHap, Illumina, and Human610-Quad)
None
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_13_ASD_discovery_controls
N/A
WES
Whole exome sequencing platforms used in four recent publications (O'Roak et al., 2011; Sanders et al., 2012; O'Roak et al., 2012, and Iossifov et al., 2012)
DNACopy, CGHCall
CoNIFER
None
krumm_15_ASD_discovery_controls
N/A
WES
CoNIFER, XHMM
None
nguyen_13_DD/ID/MCA/ASD_discovery_controls
N/A
N/A
N/A
N/A
poultney_13_ASD_discovery_controls
European
WES
Agilent SureSelect Human All Exon v.2
XHMM
None
prasad_12_ASD_discovery_controls
NA
aCGH
Agilent 1M
ADM-2, DNAcopy (R Bioconductor)
DNA Analytics v4.0.85 (Agilent), DNAcopy
sanders_11_ASD_discovery_controls
Solid phase hybridization
Illumina 1M v1 or Illumina 1M v3
PennCNV, QuantiSNP, GNOSIS
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_replication_cases-case3-0070-000
N/A
F
ASD
Case from MSSNG cohort
46105965
46109980
4016
GRCh38
Deletion
No
coe_14_ASD/DD/ID_discovery_cases-case22
N/A
N/A
Intellectual disability, developmental delay, and/or ASD
N/A
N/A
43961874
46041873
2080000
GRCh38
Deletion
No
coe_14_ASD/DD/ID_discovery_cases-case23
N/A
N/A
Intellectual disability, developmental delay, and/or ASD
N/A
N/A
43961874
46041873
2080000
GRCh38
Deletion
No
coe_14_ASD/DD/ID_discovery_cases-case24
N/A
N/A
Intellectual disability, developmental delay, and/or ASD
N/A
N/A
43961874
46041873
2080000
GRCh38
Deletion
No
coe_14_ASD/DD/ID_discovery_cases-case25
N/A
N/A
Intellectual disability, developmental delay, and/or ASD
N/A
N/A
43961874
46041873
2080000
GRCh38
Deletion
No
coe_14_ASD/DD/ID_discovery_cases-case26
N/A
N/A
Intellectual disability, developmental delay, and/or ASD
N/A
N/A
43961874
46041873
2080000
GRCh38
Deletion
No
coe_14_ASD/DD/ID_discovery_cases-case27
N/A
N/A
Intellectual disability, developmental delay, and/or ASD
N/A
N/A
43961874
46041873
2080000
GRCh38
Deletion
No
coe_14_ASD/DD/ID_discovery_cases-case28
N/A
N/A
Intellectual disability, developmental delay, and/or ASD
N/A
N/A
43961874
46041873
2080000
GRCh38
Duplication
No
coe_14_ASD/DD/ID_discovery_cases-case29
N/A
N/A
Intellectual disability, developmental delay, and/or ASD
N/A
N/A
43961874
46041873
2080000
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case14273_3960
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
48658729
48778788
120060
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case3586_3
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
48711661
48807717
96057
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case4154_1
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
44689275
44800371
111097
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case4236_1
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
47110330
47637583
527254
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case6047_4
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
47679976
47719831
39856
GRCh38
Deletion
No
gannon_11_ASD/DD_discovery_cases-patientK
ASD and/or DD
Dysmorphic features: unknown
IQ unknown
NA
NA
NA
Unknown
Deletion
No
girirajan_13a_ASD_discovery_cases-14270.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
45941873
47081873
1140001
GRCh38
Deletion
No
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000981
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
46840454
48643003
1802550
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00003788
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
44114130
44171722
57593
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004009
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
45272625
45532378
259754
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004320
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
47743903
48643003
899101
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004451
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
44197767
44660566
462800
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005174
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
44136593
46121139
1984547
GRCh38
Deletion
Yes
krumm_13_ASD_discovery_cases-case13843.p1
N/A
F
ASD
ASD proband from SSC quad family 13843. SRS score of 90.
Full-scale IQ (FSIQ) score of 66.
43750910
43754121
3212
GRCh38
Deletion
No (not tested)
krumm_15_ASD_discovery_cases-case11554.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
44071235
44075611
4377
GRCh38
Deletion
Yes
krumm_15_ASD_discovery_cases-case14270.p1
N/A
Female
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
45927314
47052518
1125205
GRCh38
Deletion
Yes
leppa_16_ASD_discovery_cases-AU001804
N/A
M
ASD
Raven's non-verbal IQ 131, PPVT 74
48084448
48744448
660001
GRCh38
Duplication
No
mak_17_ASD_discovery_cases-case9
29 mos.
M
ASD
ASD
48082117
48367204
285088
GRCh38
Duplication (mosaic)
No
moreira_14_ASD/EP_discovery_cases-case4
21 yrs.
F
ASD
Language and communication evaluation: few words. Motor and musculoskeletal evaluation: restriction of extension, elbows and knees. Epilepsy/seizures: none. Other features: hyperlordosis. Dysmorphic features: epicanthus, short philtrum, thick lips. Growth parameters: height of 166 cm (50th-75th %ile), weight of 52 kg (10th-25th %ile), and head circumference of 54 cm (25th-50th %ile).
48359351
48946475
587125
GRCh38
Deletion
No
nguyen_13_DD/ID/MCA/ASD_discovery_cases-GC48384
N/A
F
Developmental delay
Database: Signature. Indication for study: Developmental Delay
Developmental delay
48062642
48551531
488890
GRCh38
Duplication
Yes
poultney_13_ASD_discovery_cases-case04HI2755A
N/A
M
ASD
ASD case from AGRE (AGRE ID AU1172301; NDAR ID NDAR_INVKH996HE1)
43750909
43754886
3978
GRCh38
Deletion
No
poultney_13_ASD_discovery_cases-case99HI0798
N/A
M
ASD
ASD case from AGRE (AGRE ID AU056203; NDAR ID NDAR_INVWU852MLK)
43750909
43754886
3978
GRCh38
Deletion
No
poultney_13_ASD_discovery_cases-case99HI0807A
N/A
M
ASD
ASD case from AGRE (AGRE ID AU055105; NDAR ID NDAR_INVME794HY9)
47424044
47441214
17171
GRCh38
Duplication
No
prasad_12_ASD_discovery_cases-case155493L
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
43728776
43739172
10397
Unknown
Deletion
No
prasad_12_ASD_discovery_cases-case170300
NA
F
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
43728776
43739172
10397
Unknown
Deletion
No
prasad_12_ASD_discovery_cases-case61171-L
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
47627341
47639598
12258
Unknown
Deletion
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
46960674
47039779
79106
Unknown
Duplication
No
sanders_11_ASD_discovery_cases-11049.p1
7.6
M
Autism
NA
Full-scale IQ, 129; non-verbal IQ, 134; verbal IQ, 107
48368286
48473129
104844
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11069.p1
9.5
M
Autism
NA
Full-scale IQ, 77; non-verbal IQ, 96; verbal IQ, 83
48534780
48538019
3240
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11069.p1
9.5
M
Autism
NA
Full-scale IQ, 77; non-verbal IQ, 96; verbal IQ, 83
48697853
48738812
40960
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11079.p1
11.8
M
Autism
NA
Full-scale IQ, 53; non-verbal IQ, 48; verbal IQ, 63
48711661
48714400
2740
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11092.p1
13.1
M
Autism
NA
Full-scale IQ, 109; non-verbal IQ, 125; verbal IQ, 108
48534780
48548573
13794
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11229.p1
9.4
M
Autism
NA
Full-scale IQ, 63; non-verbal IQ, 68; verbal IQ, 56
48684906
48732982
48077
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11266.p1
4.3
F
Autism
NA
Full-scale IQ, 71; non-verbal IQ, 73; verbal IQ, 78
48711661
48766265
54605
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11393.p1
8.2
M
Autism
NA
Full-scale IQ, 28; non-verbal IQ, 37; verbal IQ, 17
48711661
48766265
54605
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11552.p1
9.6
M
Autism
NA
Full-scale IQ, 87; non-verbal IQ, 85; verbal IQ, 92
48534780
48538019
3240
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11554.p1
6.5
M
Autism
NA
Full-scale IQ, 105; non-verbal IQ, 104; verbal IQ, 104
44069849
44073071
3223
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11617.p1
15.3
M
Autism
NA
Full-scale IQ, 35; non-verbal IQ, 39; verbal IQ, 27
45095620
45096381
762
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11627.p1
5.7
M
ASD
NA
Full-scale IQ, 92; non-verbal IQ, 100; verbal IQ, 83
48691133
48744042
52910
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11679.p1
6.4
M
Autism
NA
Full-scale IQ, 97; non-verbal IQ, 106; verbal IQ, 84
48691133
48744042
52910
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11827.p1
17.8
M
Autism
NA
Full-scale IQ, 107; non-verbal IQ, 125; verbal IQ, 73
43754184
43759003
4820
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11843.p1
14.3
F
Autism
NA
Full-scale IQ, 115; non-verbal IQ, 113; verbal IQ, 117
48711661
48744042
32382
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11911.p1
9.9
F
Autism
NA
Full-scale IQ, 82; non-verbal IQ, 86; verbal IQ, 79
48519965
48569126
49162
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11933.p1
8.7
M
Autism
NA
Full-scale IQ, 105; non-verbal IQ, 100; verbal IQ, 108
48697853
48744042
46190
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12106.p1
9.3
M
Autism
NA
Full-scale IQ, 112; non-verbal IQ, 110; verbal IQ, 113
45095620
45096381
762
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12115.p1
12.1
M
Autism
NA
Full-scale IQ, 102; non-verbal IQ, 107; verbal IQ, 94
48646700
48652435
5736
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12265.p1
6.8
M
Autism
NA
Full-scale IQ, 87; non-verbal IQ, 96; verbal IQ, 78
44470474
44494425
23952
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12265.p1
6.8
M
Autism
NA
Full-scale IQ, 87; non-verbal IQ, 96; verbal IQ, 78
44295369
44323084
27716
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12274.p1
5.4
M
Autism
NA
Full-scale IQ, 39; non-verbal IQ, 48; verbal IQ, 30
48691133
48744042
52910
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12297.p1
15
M
Autism
NA
Full-scale IQ, 97; non-verbal IQ, 102; verbal IQ, 89
48697853
48766265
68413
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12312.p1
5.5
M
Autism
NA
Full-scale IQ, 73; non-verbal IQ, 80; verbal IQ, 70
48697853
48744042
46190
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12315.p1
5.8
M
ASD
NA
Full-scale IQ, 53; non-verbal IQ, 54; verbal IQ, 61
48711661
48766265
54605
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12340.p1
15.5
F
Autism
NA
Full-scale IQ, 26; non-verbal IQ, 29; verbal IQ, 19
46622593
46633916
11324
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12424.p1
4.2
M
ASD
NA
Full-scale IQ, 69; non-verbal IQ, 77; verbal IQ, 65
48697853
48744042
46190
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12517.p1
13.4
M
Autism
NA
Full-scale IQ, 34; non-verbal IQ, 41; verbal IQ, 20
48691133
48766265
75133
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12637.p1
7.3
M
ASD
NA
Full-scale IQ, 105; non-verbal IQ, 110; verbal IQ, 96
48453719
48609971
156253
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12796.p1
5.2
M
Autism
NA
Full-scale IQ, 68; non-verbal IQ, 72; verbal IQ, 68
48697853
48744042
46190
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12925.p1
13.5
M
Autism
NA
Full-scale IQ, 114; non-verbal IQ, 101; verbal IQ, 136
48711661
48744042
32382
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12939.p1
12.8
M
Autism
NA
Full-scale IQ, 20; non-verbal IQ, 28; verbal IQ, 11
48711661
48744042
32382
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12944.p1
7.9
M
ASD
NA
Full-scale IQ, 77; non-verbal IQ, 84; verbal IQ, 60
48711661
48744042
32382
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12955.p1
13.1
M
Autism
NA
Full-scale IQ, 65; non-verbal IQ, 66; verbal IQ, 67
48711661
48766265
54605
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12969.p1
12.2
M
Autism
NA
Full-scale IQ, 73; non-verbal IQ, 78; verbal IQ, 70
48711661
48766265
54605
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-13001.p1
6.3
M
Autism
NA
Full-scale IQ, 72; non-verbal IQ, 91; verbal IQ, 46
48711661
48766265
54605
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-13015.p1
5.3
M
Autism
NA
Full-scale IQ, 78; non-verbal IQ, 80; verbal IQ, 81
48697853
48766265
68413
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-13195.p1
8.3
M
Autism
NA
Full-scale IQ, 76; non-verbal IQ, 88; verbal IQ, 63
48711661
48766265
54605
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-controlB944304_1007853858
N/A
N/A
Control
No previous psychiatric history
47309565
47359042
49478
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlB974175_1007875270
N/A
N/A
Control
No previous psychiatric history
48363079
48778788
415710
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlHABC_900412_900412
N/A
N/A
Control
No previous psychiatric history
44265016
44708408
443393
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlHABC_900585_900585
N/A
N/A
Control
No previous psychiatric history
44538651
44708204
169554
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlHABC_900585_900585
N/A
N/A
Control
No previous psychiatric history
44316705
44528497
211793
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlHABC_902758_902758
N/A
N/A
Control
No previous psychiatric history
48099384
48422359
322976
GRCh38
Duplication
No
poultney_13_ASD_discovery_controls-control04C29640A
N/A
M
Control
NIMH Control (NIMH ID 89524)
43750909
43754886
3978
GRCh38
Deletion
No
poultney_13_ASD_discovery_controls-control04C32540A
N/A
M
Control
NIMH Control (NIMH ID 54799)
43750909
43754886
3978
GRCh38
Deletion
No
poultney_13_ASD_discovery_controls-control05C42640A
N/A
M
Control
NIMH Control (NIMH ID 51990)
43750909
43798429
47521
GRCh38
Deletion
No
poultney_13_ASD_discovery_controls-control05C44015
N/A
F
Control
NIMH Control (NIMH ID 60055)
43750909
43754886
3978
GRCh38
Deletion
No
poultney_13_ASD_discovery_controls-control05C44633
N/A
F
Control
NIMH Control (NIMH ID 59719)
46548244
46616239
67996
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11079.s1
13.4
F
Control (matched sibling)
NA
NA
48684906
48732982
48077
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11245.s1
14.1
M
Control (matched sibling)
NA
NA
44280604
44285332
4729
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11552.s1
6
F
Control (matched sibling)
NA
NA
48534780
48538019
3240
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11707.s1
15.1
F
Control (matched sibling)
NA
NA
48691133
48766265
75133
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11722.s1
9.8
M
Control (matched sibling)
NA
NA
48711661
48715621
3961
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-12051.s1
7.5
M
Control (matched sibling)
NA
NA
48691133
48744042
52910
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-12106.s1
10.9
F
Control (matched sibling)
NA
NA
45095620
45096381
762
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12115.s1
8.5
M
Control (matched sibling)
NA
NA
48646700
48652435
5736
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12274.s1
7.6
F
Control (matched sibling)
NA
NA
48711661
48766265
54605
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-12361.s1
7.3
M
Control (matched sibling)
NA
NA
48711661
48807717
96057
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-12518.s1
4.7
F
Control (matched sibling)
NA
NA
48711661
48766265
54605
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-12572.s1
6.6
F
Control (matched sibling)
NA
NA
48711661
48766265
54605
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-12610.s1
8.8
F
Control (matched sibling)
NA
NA
48711661
48766265
54605
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-12637.s1
5
M
Control (matched sibling)
NA
NA
48491258
48609971
118714
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-12852.s1
6.3
M
Control (matched sibling)
NA
NA
48711661
48766265
54605
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-12957.s1
13.3
F
Control (matched sibling)
NA
NA
48711661
48766265
54605
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-12969.s1
5.8
M
Control (matched sibling)
NA
NA
48711661
48766265
54605
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-12977.s1
5.3
M
Control (matched sibling)
NA
NA
48577939
48578417
479
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-13012.s1
4.3
F
Control (matched sibling)
NA
NA
48711661
48766265
54605
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-13039.s1
4.5
M
Control (matched sibling)
NA
NA
48711661
48766265
54605
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-13048.s1
15.6
F
Control (matched sibling)
NA
NA
48711661
48766265
54605
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-13080.s1
6.8
F
Control (matched sibling)
NA
NA
48697853
48766265
68413
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-13233.s1
10.5
F
Control (matched sibling)
NA
NA
48547234
48551125
3892
GRCh38
Deletion
No
Cases
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
brandler_18_ASD_replication_cases-case3-0070-000
No validation step reported
Paternal
PHF21A
coe_14_ASD/DD/ID_discovery_cases-case22
Unknown
Unknown
RPL34P22,MIR7154,DKFZp779M0652,C11orf94,PEX16,ACCSL,ACCS,TP53I11,SYT13,CHST1,SLC35C1,MAPK8IP1,LARGE2,EXT2,ALX4,CD82,TSPAN18,PRDM11,CRY2,PHF21A
coe_14_ASD/DD/ID_discovery_cases-case23
Unknown
Unknown
RPL34P22,MIR7154,DKFZp779M0652,C11orf94,PEX16,ACCSL,ACCS,TP53I11,SYT13,CHST1,SLC35C1,MAPK8IP1,LARGE2,EXT2,ALX4,CD82,TSPAN18,PRDM11,CRY2,PHF21A
coe_14_ASD/DD/ID_discovery_cases-case24
Unknown
Unknown
RPL34P22,MIR7154,DKFZp779M0652,C11orf94,PEX16,ACCSL,ACCS,TP53I11,SYT13,CHST1,SLC35C1,MAPK8IP1,LARGE2,EXT2,ALX4,CD82,TSPAN18,PRDM11,CRY2,PHF21A
coe_14_ASD/DD/ID_discovery_cases-case25
Unknown
Unknown
RPL34P22,MIR7154,DKFZp779M0652,C11orf94,PEX16,ACCSL,ACCS,TP53I11,SYT13,CHST1,SLC35C1,MAPK8IP1,LARGE2,EXT2,ALX4,CD82,TSPAN18,PRDM11,CRY2,PHF21A
coe_14_ASD/DD/ID_discovery_cases-case26
Unknown
Unknown
RPL34P22,MIR7154,DKFZp779M0652,C11orf94,PEX16,ACCSL,ACCS,TP53I11,SYT13,CHST1,SLC35C1,MAPK8IP1,LARGE2,EXT2,ALX4,CD82,TSPAN18,PRDM11,CRY2,PHF21A
coe_14_ASD/DD/ID_discovery_cases-case27
Unknown
Unknown
RPL34P22,MIR7154,DKFZp779M0652,C11orf94,PEX16,ACCSL,ACCS,TP53I11,SYT13,CHST1,SLC35C1,MAPK8IP1,LARGE2,EXT2,ALX4,CD82,TSPAN18,PRDM11,CRY2,PHF21A
coe_14_ASD/DD/ID_discovery_cases-case28
Unknown
Unknown
RPL34P22,MIR7154,DKFZp779M0652,C11orf94,PEX16,ACCSL,ACCS,TP53I11,SYT13,CHST1,SLC35C1,MAPK8IP1,LARGE2,EXT2,ALX4,CD82,TSPAN18,PRDM11,CRY2,PHF21A
coe_14_ASD/DD/ID_discovery_cases-case29
Unknown
Unknown
RPL34P22,MIR7154,DKFZp779M0652,C11orf94,PEX16,ACCSL,ACCS,TP53I11,SYT13,CHST1,SLC35C1,MAPK8IP1,LARGE2,EXT2,ALX4,CD82,TSPAN18,PRDM11,CRY2,PHF21A
engchuan_15_ASD_discovery_cases-case14273_3960
Unknown
engchuan_15_ASD_discovery_cases-case3586_3
Unknown
engchuan_15_ASD_discovery_cases-case4154_1
Unknown
TSPAN18
engchuan_15_ASD_discovery_cases-case4236_1
Unknown
MIR6745,ACP2,MIR4487,PSMC3,RN7SL652P,PTPMT1,KBTBD4,RNU5E-10P,FAM180B,C1QTNF4,ARFGAP2,DDB2,NR1H3,MYBPC3,SPI1,SLC39A13,CELF1,MTCH2,C11orf49,MADD,RAPSN,NDUFS3,PACSIN3
engchuan_15_ASD_discovery_cases-case6047_4
Unknown
FNBP4,AGBL2
gannon_11_ASD/DD_discovery_cases-patientK
Unknown
Unknown
NA
girirajan_13a_ASD_discovery_cases-14270.p1
Unknown
Simplex
Unknown
MIR4688,CHRM4,MIR3160-1,MIR3160-2,ZNF408,MIR5582,SNORD67,CREB3L1,DGKZ,MDK,HARBI1,ARHGAP1,F2,LRP4-AS1,LRP4,PHF21A,LINC02489,AMBRA1,ATG13,CKAP5,C11orf49
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000981
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Paternal
Unknown
Unknown
MIR6745,ACP2,MIR4487,PSMC3,RN7SL652P,PTPMT1,KBTBD4,RNU5E-10P,FAM180B,C1QTNF4,RNA5SP340,YPEL5P2,PTPRJ-AS1,MIR3161,OR4B1,OR4B2P,OR4X2,OR4X1,OR4S1,OR4C3,OR4C2P,OR4C10P,OR4C9P,OR4R1P,OR4A47,OR4A48P,OR4A43P,OR4A45P,OR4A41P,OR4A42P,LRP4-AS1,LRP4,ARFGAP2,DDB2,NR1H3,MYBPC3,SPI1,SLC39A13,CELF1,MTCH2,FNBP4,OR4C4P,OR4A40P,CKAP5,C11orf49,MADD,RAPSN,NDUFS3,AGBL2,NUP160,PTPRJ,OR4C5,OR4A46P,OR4A44P,PACSIN3
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00003788
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
EXT2
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004009
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Paternal
Unknown
Unknown
SYT13
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004320
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
RNA5SP340,YPEL5P2,PTPRJ-AS1,MIR3161,OR4B1,OR4B2P,OR4X2,OR4X1,OR4S1,OR4C3,OR4C2P,OR4C10P,OR4C9P,OR4R1P,OR4A47,OR4A48P,OR4A43P,OR4A45P,OR4A41P,OR4A42P,FNBP4,OR4C4P,OR4A40P,NUP160,PTPRJ,OR4C5,OR4A46P,OR4A44P
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004451
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
RPL34P22,EXT2,ALX4,CD82
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005174
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
De novo
Unknown
Unknown
RPL34P22,MIR7154,DKFZp779M0652,C11orf94,PEX16,TP53I11,SYT13,CHST1,SLC35C1,MAPK8IP1,LARGE2,EXT2,ALX4,CD82,TSPAN18,PRDM11,CRY2,PHF21A
krumm_13_ASD_discovery_cases-case13843.p1
Paternal
Simplex
Segregated
HSD17B12
krumm_15_ASD_discovery_cases-case11554.p1
Illumina 1M
Paternal
Simplex
Segregated
ACCS
krumm_15_ASD_discovery_cases-case14270.p1
Omni2.5-4v1
De novo
Simplex
Segregated
MIR4688,CHRM4,MIR3160-1,MIR3160-2,ZNF408,MIR5582,SNORD67,LARGE2,CREB3L1,DGKZ,MDK,HARBI1,ARHGAP1,F2,LRP4-AS1,LRP4,PHF21A,LINC02489,AMBRA1,ATG13,CKAP5,C11orf49
leppa_16_ASD_discovery_cases-AU001804
Paternal
Multiplex
Not segregated (CNV not present in affected sibling)
MIR3161,OR4B1,OR4B2P,OR4X2,OR4X1,OR4S1,OR4C3,OR4C2P,OR4C10P,OR4C9P,OR4R1P,OR4A47,OR4A48P,OR4A43P,OR4A45P,OR4A41P,OR4A42P,OR4C4P,OR4A40P,PTPRJ,OR4C5,OR4A46P,OR4A44P
mak_17_ASD_discovery_cases-case9
Unknown
MIR3161,OR4B1,OR4B2P,OR4X2,OR4X1,OR4S1,OR4C3,OR4C4P,PTPRJ,OR4C5
moreira_14_ASD/EP_discovery_cases-case4
Paternal
Unknown
Unknown
OR4C2P,OR4C10P,OR4C9P,OR4R1P,OR4A47,OR4A48P,OR4A43P,OR4A45P,OR4A41P,OR4A42P,TRIM51CP,OR4A40P,OR4C5,OR4A46P,OR4A44P
nguyen_13_DD/ID/MCA/ASD_discovery_cases-GC48384
FISH
Unknown
Unknown
Unknown
MIR3161,OR4B1,OR4B2P,OR4X2,OR4X1,OR4S1,OR4C3,OR4C2P,OR4C10P,OR4C9P,OR4R1P,OR4A47,OR4A48P,OR4A43P,OR4C4P,OR4A40P,PTPRJ,OR4C5,OR4A46P
poultney_13_ASD_discovery_cases-case04HI2755A
Unknown
Unknown (likely multiplex/AGRE)
Unknown
HSD17B12
poultney_13_ASD_discovery_cases-case99HI0798
Unknown
Unknown (likely multiplex/AGRE)
Unknown
HSD17B12
poultney_13_ASD_discovery_cases-case99HI0807A
Unknown
Unknown (likely multiplex/AGRE)
Unknown
PSMC3,RAPSN
prasad_12_ASD_discovery_cases-case155493L
Unknown
Unknown
Unknown
HSD17B12
prasad_12_ASD_discovery_cases-case170300
Unknown
Unknown
Unknown
HSD17B12
prasad_12_ASD_discovery_cases-case61171-L
Unknown
Unknown
Unknown
AGBL2
prasad_12_ASD_discovery_cases-case62083
Unknown
Unknown
Unknown
C11orf49
sanders_11_ASD_discovery_cases-11049.p1
Unknown
Simplex (quad-proband matched)
Segregated
OR4C2P,OR4C10P,OR4C9P
sanders_11_ASD_discovery_cases-11069.p1
Paternal
Simplex (quad-proband matched)
Segregated
sanders_11_ASD_discovery_cases-11069.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11079.p1
Both parents
Simplex (quad-proband matched)
Segregated
sanders_11_ASD_discovery_cases-11092.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11229.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11266.p1
Both parents
Simplex (quad-proband matched)
Segregated
sanders_11_ASD_discovery_cases-11393.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11552.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11554.p1
Paternal
Simplex (quad-proband matched)
Segregated
ACCS
sanders_11_ASD_discovery_cases-11617.p1
Unknown
Simplex (trio)
NA
PRDM11
sanders_11_ASD_discovery_cases-11627.p1
Unknown
Simplex (quad-proband matched)
Segregated
sanders_11_ASD_discovery_cases-11679.p1
Both parents
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11827.p1
Paternal
Simplex (quad-proband matched)
Not segregated
HSD17B12
sanders_11_ASD_discovery_cases-11843.p1
Both parents
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11911.p1
Paternal
Simplex (quad-proband matched)
Not segregated
OR4A43P
sanders_11_ASD_discovery_cases-11933.p1
Both parents
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12106.p1
Unknown
Simplex (quad-proband matched)
Not segregated
PRDM11
sanders_11_ASD_discovery_cases-12115.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12265.p1
Maternal
Simplex (trio)
NA
sanders_11_ASD_discovery_cases-12265.p1
Maternal
Simplex (trio)
NA
ALX4
sanders_11_ASD_discovery_cases-12274.p1
Both parents
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12297.p1
Both parents
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12312.p1
Both parents
Simplex (trio)
NA
sanders_11_ASD_discovery_cases-12315.p1
Paternal
Simplex (trio)
NA
sanders_11_ASD_discovery_cases-12340.p1
Unknown
Simplex (quad-proband matched)
Not segregated
ATG13
sanders_11_ASD_discovery_cases-12424.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12517.p1
Both parents
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12637.p1
Paternal
Simplex (quad-proband matched)
Not segregated
OR4C9P,OR4R1P,OR4A47,OR4A48P,OR4A43P,OR4A45P,OR4A41P,OR4A40P,OR4A46P
sanders_11_ASD_discovery_cases-12796.p1
Both parents
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12925.p1
Both parents
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12939.p1
Both parents
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12944.p1
Both parents
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12955.p1
Both parents
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12969.p1
Both parents
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-13001.p1
Both parents
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-13015.p1
Both parents
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-13195.p1
Both parents
Simplex (quad-proband matched)
Not segregated
Controls
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
engchuan_15_ASD_discovery_controls-controlB944304_1007853858
Unknown
MYBPC3,SPI1,MADD
engchuan_15_ASD_discovery_controls-controlB974175_1007875270
Unknown
OR4C2P,OR4C10P,OR4C9P,OR4R1P,OR4A47,OR4A48P,OR4A43P,OR4A45P,OR4A41P,OR4A42P,OR4A40P,OR4C5,OR4A46P,OR4A44P
engchuan_15_ASD_discovery_controls-controlHABC_900412_900412
Unknown
RPL34P22,ALX4,CD82
engchuan_15_ASD_discovery_controls-controlHABC_900585_900585
Unknown
RPL34P22,CD82
engchuan_15_ASD_discovery_controls-controlHABC_900585_900585
Unknown
engchuan_15_ASD_discovery_controls-controlHABC_902758_902758
Unknown
OR4B1,OR4B2P,OR4X2,OR4X1,OR4S1,OR4C3,OR4C2P,OR4C4P,PTPRJ,OR4C5
poultney_13_ASD_discovery_controls-control04C29640A
Unknown
HSD17B12
poultney_13_ASD_discovery_controls-control04C32540A
Unknown
HSD17B12
poultney_13_ASD_discovery_controls-control05C42640A
Unknown
HSD17B12
poultney_13_ASD_discovery_controls-control05C44015
Unknown
HSD17B12
poultney_13_ASD_discovery_controls-control05C44633
Unknown
HARBI1,AMBRA1
sanders_11_ASD_discovery_controls-11079.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11245.s1
Maternal
Simplex (quad)
NA
ALX4
sanders_11_ASD_discovery_controls-11552.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11707.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11722.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12051.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12106.s1
Unknown
Simplex (quad)
NA
PRDM11
sanders_11_ASD_discovery_controls-12115.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12274.s1
Both parents
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12361.s1
Unknown
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12518.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12572.s1
Both parents
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12610.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12637.s1
Paternal
Simplex (quad)
NA
OR4A48P,OR4A43P,OR4A45P,OR4A41P,OR4A40P,OR4A46P
sanders_11_ASD_discovery_controls-12852.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12957.s1
Both parents
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12969.s1
Both parents
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12977.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-13012.s1
Both parents
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-13039.s1
Both parents
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-13048.s1
Both parents
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-13080.s1
Both parents
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-13233.s1
Paternal
Simplex (quad)
NA
No Animal Model Data Available