12p11.1CNV Type: Deletion-Duplication
Largest CNV size: 1308923 bp
Statistics Box:
Number of Reports: 11
Number of Reports: 11
Summary Information
Summary statement in development
Additional Locus Information
References
Major Reports
Title
Author, Year
Report Class
CNV Type
Novel submicroscopic chromosomal abnormalities detected in autism spectrum disorder.
Duplication
An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabili...
Duplication
High resolution analysis of rare copy number variants in patients with autism spectrum disorder from Taiwan.
Duplication
Minor Reports
Title
Author, Year
Report Class
CNV Type
Rare structural variation of synapse and neurotransmission genes in autism.
Deletion-Duplication
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
Global increases in both common and rare copy number load associated with autism.
Deletion-Duplication
Identification of small exonic CNV from whole-exome sequence data and application to autism spectrum disorder.
Duplication
Performance of case-control rare copy number variation annotation in classification of autism.
Duplication
Rare Inherited and De Novo CNVs Reveal Complex Contributions to ASD Risk in Multiplex Families.
Duplication
Cases
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
chen_17_ASD_discovery_cases
Patients recruited from the Children's Mental Health Center, National Taiwan University Hospital, Taipei, Taiwan and Department of Psychiatry, Chang-Gung Memorial Hospital, Kuei-Shan, Taiwan.
335
All cases met the clinical diagnosis of autistic disorder as defined by DSM-IV; diagnosis was confirmed by interviewing parents using the Chinese version of ADI-R, and all cases received further clincial evaluation according to DSM-5 diagnostic criteria for ASD. Intelligence was measured using the Wechsler Primary and Preschool Scale of Intelligence-Revised (WPPSI-R), the Wechsler Intelligence Scale for Children-3rd Edition (WISC-III), or the Wechsler Adult Intelligence Scale (WAIS). Autistic-like social deficits were assessed using the Social Responsiveness Scale (SRS); symptoms of inattention, hyperactivity, and oppositional behavior were assessed using the Swanson, Nolan and Pelham Quest
Mean age, 9.4 4.0 years
89.25% Male
780000
0
2
2
christian_08_ASD_discovery_cases
Subset of unrelated AGRE subjects (362 from multiplex families, 35 from simplex families)
397
ASD
58.4% Male
1200000
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
1313494
0
5
5
gai_11_ASD_replication_cases
Replication case samples derived from AGRE sets 1-3
593
Idiopathic autism; cases designated as 'spectrum' and 'not quite autism' excluded, as were cases with known genetic syndromes or other non-idiopathic causes
1254634
1
2
3
girirajan_13b_ASD_discovery_cases
Children with autism ascertained from the Childhood Autism Risks from Genetics and Environment (CHARGE) study conducted through the Medical Investigation of Neurodevelopmental Disorders (MIND) Institute at UC-Davis after passing QC criteria (274 initial cases)
243
Diagnosis of autism confirmed by ADOS and ADI-R. Exclusion criteria: children with developmental delay but lacking symptoms and autism, as well as children with ASD as defined by the CHARGE protocol
N/A
N/A
568776
2
8
10
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
1211060
0
1
1
krumm_15_ASD_discovery_cases
Probands from the Simons Simplex Collection
2377
Diagnosis of ASD
N/A
N/A
62693
0
1
1
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
1300000
0
1
1
levy_11_ASD_discovery_cases
Autistic probands from 887 families from the Simons Simplex Collection (SSC)
858
ASD
87.06% Male
728927
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)
650090
0
1
1
sanders_11_ASD_discovery_cases
Autistic probands from the Simons Simplex Collection (SSC). 872 probands in quartet families, 272 probands in trios.
1124
ASD diagnosis: 89.5% autism; 8.5% PDD-NOS, 2% Asperger syndrome. Mean full-scale IQ 85.1 1.5 (mean verbal IQ, 81.9 1.7; mean non-verbal IQ, 88.4 1.4)
Mean, 9.1 yrs.
86.1% Male
1308923
22
38
60
wang_10_ASD_discovery_cases
ASD patients recruited from Centers for Autism in Zagreb, Rijeka, and Split (Croatia)
103
ASD (according to DSM-IV criteria)
Mean, 21.5 10.3
78.6% Male
1286000
0
0
0
Controls
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
chen_17_ASD_discovery_controls1
Control subjects chosen from the Han Chinese Cell and Genome Bank (HCCGB) in Taiwan
1093
Subjects received physical check-up and questionnaire screening to ensure that they did not have any abnormal physical condition and mental illness
Mean age, 68.1 10.1 years
48.03% Male
780000
0
1
1
christian_08_ASD_discovery_controls
Control subjects from NIMH Genetics Initiative Control sample set, characterized for Axis I disorders
372
Controls
1200000
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
1277189
0
3
3
girirajan_13b_ASD_discovery_controls
Controls ascertained from the Childhood Autism Risks from Genetics and Environment (CHARGE) study conducted through the Medical Investigation of Neurodevelopmental Disorders (MIND) Institute at UC-Davis after passing QC criteria (242 initial controls)
223
Control
N/A
N/A
1323103
0
13
13
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
647330
0
3
3
levy_11_ASD_discovery_controls
Unaffected siblings of autistic probands from 887 families from the Simons Simplex Collection (SSC)
863
Control
47.97% Male
0
0
0
0
nord_11_ASD_discovery_controls
Samples from 367 total control individuals (319 European American, 48 African American) used to test for differences in rare CNV prevalence compared with autism cases
123
Controls (no history of psychiatric symptoms by self-report)
30 yrs.
574377
0
1
1
poultney_13_ASD_discovery_controls
Controls matched for European ancestry from NIMH and CEPH retained after filtering (original cohort size of 379 controls)
260
Control
N/A
47.49% Male (before filtering)
650090
0
1
1
sanders_11_ASD_discovery_controls
Matched siblings of autistic probands from the Simons Simplex Collection (SSC).
872
Controls
Mean, 10.0 yrs.
445913
17
27
44
wang_10_ASD_discovery_controls
Healthy blood donors with no history of mental illness, behavioral disorders, or substance abuse
203
Controls
Mean, 32.5 8.06
71.9% Male
1286000
0
1
1
Cases
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
chen_17_ASD_discovery_cases
Han Chinese
Array SNP
Affymetrix 6.0
Affymetrix Genotyping Console v.4.1
RT-qPCR
christian_08_ASD_discovery_cases
235 White/Not Hispanic, 28 White/Hispanic, 9 Asians, 4 Blacks, 14 Mixed/Not Hispanic, 7 Mixed/Hispanic, 98 Unknown
aCGH
RPCI 19K BAC microarray
FISH, microsatellite, qPCR
engchuan_15_ASD_discovery_cases
Caucasian
Solid phase hybridization
Illumina 1M
None
gai_11_ASD_replication_cases
European
Solid phase hybridization
Illumina Infinium II HumanHap550 BeadChip
BeadStudio 3.0
None
girirajan_13b_ASD_discovery_cases
133 European, 57 Hispanic, 27 Mixed Race, 20 Asian, 6 African-American
aCGH
Roche NimbleGen custom targeted hotspot array comprised of 135,000 probes with higher density probe coverage in genomic hotspots (regions flanked by segmental duplications)
DNA Copy Number v1.6
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)
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
levy_11_ASD_discovery_cases
aCGH
NimbleGen HD2
HMM
poultney_13_ASD_discovery_cases
European
WES
Agilent SureSelect Human All Exon v.2
XHMM
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
wang_10_ASD_discovery_cases
Croatian
Solid phase hybridization
Illumina HumanHap550 BeadChip
PennCNV
BeadStudio
None
Controls
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
chen_17_ASD_discovery_controls1
Han Chinese
Array SNP
Affymetrix 6.0
Affymetrix Genotyping Console v.4.1
christian_08_ASD_discovery_controls
262 Caucasians, 100 African-Americans
aCGH
RPCI 19K BAC microarray
engchuan_15_ASD_discovery_controls
Caucasian
Solid phase hybridization
Illumina 1M
None
girirajan_13b_ASD_discovery_controls
116 European, 70 Hispanic, 27 Mixed Race, 7 Asian, 3 African-American
aCGH
Roche NimbleGen custom targeted hotspot array comprised of 135,000 probes with higher density probe coverage in genomic hotspots (regions flanked by segmental duplications)
DNA Copy Number v1.6
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
poultney_13_ASD_discovery_controls
European
WES
Agilent SureSelect Human All Exon v.2
XHMM
None
sanders_11_ASD_discovery_controls
Solid phase hybridization
Illumina 1M v1 or Illumina 1M v3
PennCNV, QuantiSNP, GNOSIS
wang_10_ASD_discovery_controls
Croatian
Solid phase hybridization
Illumina HumanHap550 BeadChip
PennCNV
BeadStudio
None
Cases
Patient ID
Author, Year
Age
Gender
Primary Diagnosis
Clinical Profile
Cognitive Profile
CNV Start
CNV End
CNV Size
Genome Build
Type Method
Validation
chen_17_ASD_discovery_cases-caseU-1230
N/A
M
ASD
Case met the clinical diagnosis of autistic disorder as defined by DSM-IV, which was confirmed by interviewing parents using the Chinese version of ADI-R; case also received further clincial evaluation according to DSM-5 diagnostic criteria for ASD. ADI-R evaluation results: Qualitative abnormalities in reciprocal social interaction, current score 16 (past score 26); Qualitative abnormalities in verbal and nonverbal communication, current score 12 (past score 17); Qualitative abnormalities in nonverbal communication, current score 6 (past score 8); Restricted, repetitive, and stereotyped patterns of behaviour, current score 9 (past score 10); Abnormality of development evident at or before 36 months, past score 5. Behavioral/psychiatric evaluation: Social Responsiveness Scale (SRS) score 111; Swanson, Nolan and Pelham Questionnaire (SNAP-IV) score 20. Epilepsy: no history of epilepsy.
Performance IQ 97, Verbal IQ 73, Full-scale IQ 81
33599395
34379787
780393
GRCh38
Duplication
Yes
chen_17_ASD_discovery_cases-caseU-1691
N/A
M
ASD
Case met the clinical diagnosis of autistic disorder as defined by DSM-IV, which was confirmed by interviewing parents using the Chinese version of ADI-R; case also received further clincial evaluation according to DSM-5 diagnostic criteria for ASD. ADI-R evaluation results: Qualitative abnormalities in reciprocal social interaction, current score 7 (past score 18); Qualitative abnormalities in verbal and nonverbal communication, current score 5 (past score 10); Qualitative abnormalities in nonverbal communication, current score 2 (past score 6); Restricted, repetitive, and stereotyped patterns of behaviour, current score 1 (past score 1); Abnormality of development evident at or before 36 months, past score 5. Behavioral/psychiatric evaluation: Social Responsiveness Scale (SRS) score 51; Swanson, Nolan and Pelham Questionnaire (SNAP-IV) score 42. Epilepsy: no history of epilepsy.
Performance IQ 97, Verbal IQ 99, Full-scale IQ 97
33599395
34379787
780393
GRCh38
Duplication
Yes
christian_08_ASD_discovery_cases-AU048703
NA
F
ASD
NA
NA
33529142
34696524
1167383
GRCh38
Duplication
Yes
engchuan_15_ASD_discovery_cases-case16044_1571088001
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
33371147
34680070
1308924
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case17017_1
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
33371147
34283456
912310
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case20127_4014001
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
33532940
33608227
75288
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case3101_4
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
33366576
34680070
1313495
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case5059_4
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
33371147
34648336
1277190
GRCh38
Duplication
No
gai_11_ASD_replication_cases-AU020803
Autism
34466271
34711193
244923
Unknown
Deletion
No
gai_11_ASD_replication_cases-AU048703
Autism
33415349
34669982
1254634
Unknown
Duplication
No
gai_11_ASD_replication_cases-AU048704
Autism
33415349
34669982
1254634
Unknown
Duplication
No
girirajan_13b_ASD_discovery_cases-16909111203
N/A
N/A
Autism
Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Caucasian
N/A
34336032
34391126
55095
GRCh38
Duplication
No
girirajan_13b_ASD_discovery_cases-17609111227
N/A
N/A
Autism
Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Caucasian
N/A
34336032
34391131
55100
GRCh38
Duplication
No
girirajan_13b_ASD_discovery_cases-25504100812
N/A
N/A
Autism
Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Hispanic
N/A
34275671
34427434
151764
GRCh38
Duplication
No
girirajan_13b_ASD_discovery_cases-25807108397
N/A
N/A
Autism
Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Asian
N/A
34312606
34392801
80196
GRCh38
Duplication
No
girirajan_13b_ASD_discovery_cases-28309111551
N/A
N/A
Autism
Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Hispanic
N/A
34427434
34595386
167953
GRCh38
Deletion
No
girirajan_13b_ASD_discovery_cases-40906106831
N/A
N/A
Autism
Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Caucasian
N/A
33813096
33981827
168732
GRCh38
Duplication
No
girirajan_13b_ASD_discovery_cases-40906106831
N/A
N/A
Autism
Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Caucasian
N/A
34060337
34629113
568777
GRCh38
Duplication
No
girirajan_13b_ASD_discovery_cases-45805103809
N/A
N/A
Autism
Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Caucasian
N/A
34342326
34392801
50476
GRCh38
Duplication
No
girirajan_13b_ASD_discovery_cases-57105104492
N/A
N/A
Autism
Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Caucasian
N/A
34292532
34391131
98600
GRCh38
Deletion
No
girirajan_13b_ASD_discovery_cases-9106105625
N/A
N/A
Autism
Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Caucasian
N/A
34337102
34392801
55700
GRCh38
Duplication
No
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005241
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
33392214
34603274
1211061
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_cases-case13180.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
33376829
33439522
62694
GRCh38
Duplication
Yes
leppa_16_ASD_discovery_cases-AU048704
N/A
F
ASD
33371065
34648065
1277001
GRCh38
Duplication
No
levy_11_ASD_discovery_cases-11463.p1
NA
M
ASD
NA
NA
33370639
34099565
728927
GRCh38
Duplication
No
poultney_13_ASD_discovery_cases-case99HI0999B
N/A
F
ASD
ASD case from AGRE (AGRE ID AU048704; NDAR ID NDAR_INVHR102FNK)
33376828
34026917
650090
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11014.p1
9.6
M
Autism
NA
Full-scale IQ, 148; non-verbal IQ, 158; verbal IQ, 113
34103275
34113759
10485
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11066.p1
8.9
M
Autism
NA
Full-scale IQ, 88; non-verbal IQ, 92; verbal IQ 86
34103275
34113759
10485
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11090.p1
11.7
M
Autism
NA
Full-scale IQ, 56; non-verbal IQ, 67; verbal IQ, 53
34680070
34700076
20007
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11093.p1
8.1
M
Autism
NA
Full-scale IQ, 84; non-verbal IQ, 91; verbal IQ, 76
34103275
34113759
10485
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11108.p1
8.1
M
Autism
NA
Full-scale IQ, 104; non-verbal IQ, 114; verbal IQ, 85
34103275
34113759
10485
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11161.p1
7
M
Autism
NA
Full-scale IQ, 65; non-verbal IQ, 74; verbal IQ, 59
34680070
34700076
20007
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11179.p1
13.3
M
Autism
NA
Full-scale IQ, 57; non-verbal IQ, 65; verbal IQ, 41
34402311
34680070
277760
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11223.p1
12.1
M
Autism
NA
Full-scale IQ, 104; non-verbal IQ, 106; verbal IQ 102
34103275
34124007
20733
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11276.p1
7.7
M
Autism
NA
Full-scale IQ, 63; non-verbal IQ, 81; verbal IQ 59
34680070
34700076
20007
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11333.p1
9.8
M
Autism
NA
Full-scale IQ, 63; non-verbal IQ, 70; verbal IQ, 53
34158310
34189417
31108
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11333.p1
9.8
M
Autism
NA
Full-scale IQ, 63; non-verbal IQ, 70; verbal IQ, 53
34110199
34141764
31566
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11400.p1
8.3
M
Autism
NA
Full-scale IQ, 111; non-verbal IQ, 114; verbal IQ, 103
34103275
34117435
14161
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11422.p1
6.1
M
Autism
NA
Full-scale IQ, 101; non-verbal IQ, 96; verbal IQ, 106
34103275
34113759
10485
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11435.p1
17.7
M
Autism
NA
Full-scale IQ, 65; non-verbal IQ, 63; verbal IQ, 70
34103275
34113759
10485
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11453.p1
8.8
M
ASD
NA
Full-scale IQ, 111; non-verbal IQ, 111; verbal IQ, 109
34158310
34240384
82075
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11463.p1
7.6
M
Autism
NA
Full-scale IQ, 88; non-verbal IQ, 98; verbal IQ, 79
33371147
34680070
1308924
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11491.p1
7.8
M
Autism
NA
Full-scale IQ, 53; non-verbal IQ, 63; verbal IQ, 44
34680070
34700076
20007
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11584.p1
11.5
M
Autism
NA
Full-scale IQ, 73; non-verbal IQ, 75; verbal IQ, 73
34103275
34680070
576796
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11592.p1
10.1
M
Autism
NA
Full-scale IQ, 115; non-verbal IQ, 109; verbal IQ, 122
34680070
34700076
20007
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11653.p1
4.5
M
Autism
NA
Full-scale IQ, 36; non-verbal IQ, 44; verbal IQ, 28
34103275
34113932
10658
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11665.p1
9.9
M
Autism
NA
Full-scale IQ, 72; non-verbal IQ, 79; verbal IQ, 65
34680070
34700076
20007
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11715.p1
6.6
M
Autism
NA
Full-scale IQ, 96; non-verbal IQ, 95; verbal IQ, 101
34158310
34194205
35896
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11718.p1
10.8
M
Autism
NA
Full-scale IQ, 97; non-verbal IQ, 93; verbal IQ, 108
34151981
34194205
42225
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11781.p1
7
M
Autism
NA
Full-scale IQ, 85; non-verbal IQ, 86; verbal IQ, 88
34680070
34700076
20007
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11792.p1
10.5
M
Autism
NA
Full-scale IQ, 107; non-verbal IQ, 100; verbal IQ, 119
34680070
34700076
20007
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11808.p1
8.8
F
Autism
NA
Full-scale IQ, 84; non-verbal IQ, 81; verbal IQ, 95
34103275
34113932
10658
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11909.p1
5.7
M
Autism
NA
Full-scale IQ, 101; non-verbal IQ, 93; verbal IQ, 115
34103275
34113932
10658
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11928.p1
12.6
F
Autism
NA
Full-scale IQ, 53; non-verbal IQ, 66; verbal IQ, 47
34158310
34189417
31108
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11935.p1
5.3
M
Autism
NA
Full-scale IQ, 83; non-verbal IQ, 90; verbal IQ, 77
34103275
34250639
147365
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11939.p1
7.2
M
Autism
NA
Full-scale IQ, 89; non-verbal IQ, 91; verbal IQ, 88
34110199
34113932
3734
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11946.p1
11
M
Autism
NA
Full-scale IQ, 52; non-verbal IQ, 59; verbal IQ, 37
34103275
34113932
10658
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11981.p1
6.6
F
Aspergers
NA
Full-scale IQ, 99; non-verbal IQ, 99; verbal IQ, 100
34412081
34700076
287996
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11986.p1
10.5
M
Autism
NA
Full-scale IQ, 109; non-verbal IQ, 101; verbal IQ, 123
34110199
34206105
95907
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12032.p1
10.3
M
Autism
NA
Full-scale IQ, 75; non-verbal IQ, 71; verbal IQ, 84
34141764
34209817
68054
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12037.p1
10.3
M
Autism
NA
Full-scale IQ, 88; non-verbal IQ, 90; verbal IQ, 88
34103275
34113932
10658
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12066.p1
7.5
M
Autism
NA
Full-scale IQ, 121; non-verbal IQ, 131; verbal IQ, 95
34132236
34189417
57182
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12101.p1
5.1
M
Autism
NA
Full-scale IQ, 61; non-verbal IQ, 73; verbal IQ, 38
34680070
34700076
20007
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12103.p1
6.6
M
Autism
NA
Full-scale IQ, 38; non-verbal IQ, 44; verbal IQ, 31
34333997
34379787
45791
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12117.p1
9.6
M
Autism
NA
Full-scale IQ, 68; non-verbal IQ, 76; verbal IQ, 56
34680070
34700076
20007
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12121.p1
8.5
M
Autism
NA
Full-scale IQ, 130; non-verbal IQ, 134; verbal IQ, 110
34680070
34700076
20007
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12212.p1
12.3
M
Autism
NA
Full-scale IQ, 26; non-verbal IQ, 29; verbal IQ, 20
34680070
34700076
20007
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12215.p1
4.5
M
Autism
NA
Full-scale IQ, 108; non-verbal IQ, 113; verbal IQ, 96
34680070
34700076
20007
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
34103275
34117435
14161
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12343.p1
6.2
F
Autism
NA
Full-scale IQ, 30; non-verbal IQ, 42; verbal IQ, 18
34132236
34189417
57182
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12360.p1
6.8
M
Autism
NA
Full-scale IQ, 104; non-verbal IQ, 104; verbal IQ, 101
34359832
34700076
340245
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12373.p1
9.8
M
Autism
NA
Full-scale IQ, 0; non-verbal IQ, 77; verbal IQ, 40
34103275
34113932
10658
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12377.p1
17.8
M
Autism
NA
Full-scale IQ, 76; non-verbal IQ, 67; verbal IQ, 93
34103275
34113932
10658
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12555.p1
16.9
M
Autism
NA
Full-scale IQ, 119; non-verbal IQ, 113; verbal IQ, 126
34103275
34113932
10658
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12622.p1
15.1
M
Autism
NA
Full-scale IQ, 85; non-verbal IQ, 97; verbal IQ, 70
34158310
34176657
18348
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12690.p1
11.6
M
Autism
NA
Full-scale IQ, 110; non-verbal IQ, 112; verbal IQ, 103
34099935
34153924
53990
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12787.p1
7.8
M
Autism
NA
Full-scale IQ, 101; non-verbal IQ, 130; verbal IQ, 88
34680070
34700076
20007
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
34680070
34700076
20007
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
34558751
34592043
33293
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12997.p1
9.6
M
Autism
NA
Full-scale IQ, 97; non-verbal IQ, 94; verbal IQ, 103
34110199
34141764
31566
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12997.p1
9.6
M
Autism
NA
Full-scale IQ, 97; non-verbal IQ, 94; verbal IQ, 103
34150174
34194205
44032
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-13012.p1
5.8
M
Autism
NA
Full-scale IQ, 39; non-verbal IQ, 60; verbal IQ, 21
34110199
34206105
95907
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-13036.p1
11.9
M
Autism
NA
Full-scale IQ, 27; non-verbal IQ, 36; verbal IQ, 19
34103275
34113932
10658
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
34103275
34117435
14161
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-13082.p1
6
M
Autism
NA
Full-scale IQ, 61; non-verbal IQ, 67; verbal IQ, 61
34110199
34206105
95907
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-13187.p1
9.5
M
Autism
NA
Full-scale IQ, 84; non-verbal IQ, 83; verbal IQ, 86
34113401
34132236
18836
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
chen_17_ASD_discovery_controls1-control19
N/A
N/A
Control
Subject received physical check-up and questionnaire screening to ensure that he/she did not have any abnormal physical condition and mental illness.
33599395
34379787
780393
GRCh38
Duplication
engchuan_15_ASD_discovery_controls-controlHABC_900267_900267
N/A
N/A
Control
No previous psychiatric history
33368785
34103275
734491
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlHABC_900493_900493
N/A
N/A
Control
No previous psychiatric history
33744546
33834779
90234
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlHABC_902846_902846
N/A
N/A
Control
No previous psychiatric history
33371147
34648336
1277190
GRCh38
Duplication
No
girirajan_13b_ASD_discovery_controls-11408109472
N/A
N/A
Control
Ethnicity: Caucasian
N/A
34043243
34111901
68659
GRCh38
Duplication
No
girirajan_13b_ASD_discovery_controls-11806105859
N/A
N/A
Control
Ethnicity: Mixed Race
N/A
34321968
34392801
70834
GRCh38
Duplication
No
girirajan_13b_ASD_discovery_controls-12110113024
N/A
N/A
Control
Ethnicity: Caucasian
N/A
34312181
34392801
80621
GRCh38
Duplication
No
girirajan_13b_ASD_discovery_controls-12907107979
N/A
N/A
Control
Ethnicity: Caucasian
N/A
33328311
34651414
1323104
GRCh38
Duplication
No
girirajan_13b_ASD_discovery_controls-12907107979
N/A
N/A
Control
Ethnicity: Caucasian
N/A
34164840
34629113
464274
GRCh38
Duplication
No
girirajan_13b_ASD_discovery_controls-12907107979
N/A
N/A
Control
Ethnicity: Caucasian
N/A
33371541
34111901
740361
GRCh38
Duplication
No
girirajan_13b_ASD_discovery_controls-13703100328
N/A
N/A
Control
Ethnicity: Hispanic
N/A
34325399
34392801
67403
GRCh38
Duplication
No
girirajan_13b_ASD_discovery_controls-17203100441
N/A
N/A
Control
Ethnicity: Caucasian
N/A
34275571
34427434
151864
GRCh38
Duplication
No
girirajan_13b_ASD_discovery_controls-25204100801
N/A
N/A
Control
Ethnicity: Caucasian
N/A
34275616
34391131
115516
GRCh38
Duplication
No
girirajan_13b_ASD_discovery_controls-27309111520
N/A
N/A
Control
Ethnicity: Caucasian
N/A
34275137
34392801
117665
GRCh38
Duplication
No
girirajan_13b_ASD_discovery_controls-27309111520
N/A
N/A
Control
Ethnicity: Caucasian
N/A
33371541
34112331
740791
GRCh38
Duplication
No
girirajan_13b_ASD_discovery_controls-3208108937
N/A
N/A
Control
Ethnicity: Mixed Race
N/A
34330103
34392801
62699
GRCh38
Duplication
No
girirajan_13b_ASD_discovery_controls-60105104570
N/A
N/A
Control
Ethnicity: Caucasian
N/A
34597035
34696396
99362
GRCh38
Duplication
No
krumm_15_ASD_discovery_controls-control13180.s1
N/A
Male
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
33376829
33439522
62694
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_controls-control13697.s1
N/A
Female
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
33376829
34024159
647331
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_controls-control13739.s1
N/A
Male
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
33376829
33439522
62694
GRCh38
Duplication
Yes
nord_11_ASD_discovery_controls-04C28249
Control
33416721
33991097
574377
Unknown
Duplication
poultney_13_ASD_discovery_controls-control05C45248
N/A
M
Control
NIMH Control (NIMH ID 26029)
33376828
34026917
650090
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11011.s1
5.9
M
Control (matched sibling)
NA
NA
34103275
34113759
10485
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11055.s1
11.3
F
Control (matched sibling)
NA
NA
34680070
34700076
20007
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11057.s1
5.9
M
Control (matched sibling)
NA
NA
34103275
34113759
10485
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11108.s1
10.3
M
Control (matched sibling)
NA
NA
34103275
34113759
10485
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11277.s1
7.2
F
Control (matched sibling)
NA
NA
34680070
34700076
20007
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11422.s1
8.5
F
Control (matched sibling)
NA
NA
34103275
34113759
10485
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11435.s1
23.3
M
Control (matched sibling)
NA
NA
34103275
34113759
10485
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11472.s1
10.6
F
Control (matched sibling)
NA
NA
34680070
34700076
20007
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11473.s1
9.3
F
Control (matched sibling)
NA
NA
34103275
34124007
20733
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11494.s1
19.3
M
Control (matched sibling)
NA
NA
34680070
34700076
20007
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11556.s1
7.3
F
Control (matched sibling)
NA
NA
34103275
34113759
10485
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11584.s1
13.5
M
Control (matched sibling)
NA
NA
34234157
34680070
445914
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11711.s1
7
M
Control (matched sibling)
NA
NA
34680070
34700076
20007
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11714.s1
4.3
M
Control (matched sibling)
NA
NA
34680070
34700076
20007
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11716.s1
11.6
M
Control (matched sibling)
NA
NA
34680070
34700076
20007
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11792.s1
8.6
M
Control (matched sibling)
NA
NA
34680070
34700076
20007
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11798.s1
7.2
F
Control (matched sibling)
NA
NA
34103275
34113932
10658
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11808.s1
12.2
F
Control (matched sibling)
NA
NA
34103275
34113932
10658
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11843.s1
16.9
F
Control (matched sibling)
NA
NA
34680070
34700076
20007
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11909.s1
5.7
M
Control (matched sibling)
NA
NA
34103275
34113932
10658
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11933.s1
6.8
M
Control (matched sibling)
NA
NA
34158310
34176657
18348
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11959.s1
9.7
F
Control (matched sibling)
NA
NA
34132236
34194205
61970
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11981.s1
8.6
F
Control (matched sibling)
NA
NA
34412081
34700076
287996
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12015.s1
9
F
Control (matched sibling)
NA
NA
34099935
34121838
21904
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12037.s1
16.8
M
Control (matched sibling)
NA
NA
34103275
34113932
10658
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12062.s1
7.8
F
Control (matched sibling)
NA
NA
34099935
34113759
13825
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12073.s1
7.3
F
Control (matched sibling)
NA
NA
34680070
34700076
20007
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-12101.s1
5.1
M
Control (matched sibling)
NA
NA
34680070
34700076
20007
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-12130.s1
8.4
M
Control (matched sibling)
NA
NA
34680070
34700076
20007
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-12153.s1
16.5
F
Control (matched sibling)
NA
NA
34680070
34700076
20007
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-12154.s1
9.1
F
Control (matched sibling)
NA
NA
34680070
34700076
20007
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-12228.s1
8.8
F
Control (matched sibling)
NA
NA
34103275
34117435
14161
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12360.s1
7.9
F
Control (matched sibling)
NA
NA
34359832
34673639
313808
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-12445.s1
6.6
M
Control (matched sibling)
NA
NA
34680070
34700076
20007
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12690.s1
10.6
M
Control (matched sibling)
NA
NA
34099935
34153924
53990
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12784.s1
8.4
M
Control (matched sibling)
NA
NA
34158310
34194205
35896
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-12859.s1
6.6
M
Control (matched sibling)
NA
NA
34132236
34222895
90660
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-12867.s1
18.8
M
Control (matched sibling)
NA
NA
34680070
34700076
20007
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-12867.s1
18.8
M
Control (matched sibling)
NA
NA
34110199
34189417
79219
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-12939.s1
5.7
M
Control (matched sibling)
NA
NA
34680070
34700076
20007
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-12944.s1
4.8
M
Control (matched sibling)
NA
NA
34680070
34700076
20007
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-12977.s1
5.3
M
Control (matched sibling)
NA
NA
34158310
34201990
43681
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-12997.s1
5.7
F
Control (matched sibling)
NA
NA
34680070
34700076
20007
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-13175.s1
13.7
F
Control (matched sibling)
NA
NA
34680070
34700076
20007
GRCh38
Duplication
No
wang_10_ASD_discovery_controls-Aut39
23
M
Control
NA
NA
33371147
34657268
1286122
GRCh38
Duplication
No
Cases
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
chen_17_ASD_discovery_cases-caseU-1230
RT-qPCR
Paternal
RNU6-472P,TUBB8P4,RNA5SP357,DUX4L27,AK6P1,ALG10
chen_17_ASD_discovery_cases-caseU-1691
RT-qPCR
Paternal
RNU6-472P,TUBB8P4,RNA5SP357,DUX4L27,AK6P1,ALG10
christian_08_ASD_discovery_cases-AU048703
FISH, microsatellite
inherited
Multiplex
NA
RNU6-400P,RNU6-472P,TUBB8P4,RNA5SP357,DUX4L27,AK6P1,ALG10
engchuan_15_ASD_discovery_cases-case16044_1571088001
Unknown
RNU6-400P,RNU6-472P,TUBB8P4,RNA5SP357,DUX4L27,AK6P1,ALG10,SYT10
engchuan_15_ASD_discovery_cases-case17017_1
Unknown
RNU6-400P,RNU6-472P,TUBB8P4,RNA5SP357,DUX4L27,AK6P1,ALG10,SYT10
engchuan_15_ASD_discovery_cases-case20127_4014001
Unknown
RNU6-400P
engchuan_15_ASD_discovery_cases-case3101_4
Unknown
RNU6-400P,RNU6-472P,TUBB8P4,RNA5SP357,DUX4L27,AK6P1,ALG10,SYT10
engchuan_15_ASD_discovery_cases-case5059_4
Unknown
RNU6-400P,RNU6-472P,TUBB8P4,RNA5SP357,DUX4L27,AK6P1,ALG10,SYT10
gai_11_ASD_replication_cases-AU020803
Inherited
0 genes
gai_11_ASD_replication_cases-AU048703
Inherited
SYT10, ALG10
gai_11_ASD_replication_cases-AU048704
Inherited
SYT10, ALG10
girirajan_13b_ASD_discovery_cases-16909111203
Unknown
Unknown
Unknown
girirajan_13b_ASD_discovery_cases-17609111227
Unknown
Unknown
Unknown
girirajan_13b_ASD_discovery_cases-25504100812
Unknown
Unknown
Unknown
girirajan_13b_ASD_discovery_cases-25807108397
Unknown
Unknown
Unknown
girirajan_13b_ASD_discovery_cases-28309111551
Unknown
Unknown
Unknown
girirajan_13b_ASD_discovery_cases-40906106831
Unknown
Unknown
Unknown
RNU6-472P
girirajan_13b_ASD_discovery_cases-40906106831
Unknown
Unknown
Unknown
TUBB8P4,RNA5SP357,DUX4L27,AK6P1
girirajan_13b_ASD_discovery_cases-45805103809
Unknown
Unknown
Unknown
girirajan_13b_ASD_discovery_cases-57105104492
Unknown
Unknown
Unknown
girirajan_13b_ASD_discovery_cases-9106105625
Unknown
Unknown
Unknown
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005241
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
RNU6-400P,RNU6-472P,TUBB8P4,RNA5SP357,DUX4L27,AK6P1,ALG10,SYT10
krumm_15_ASD_discovery_cases-case13180.p1
1M-Duov3
Maternal
Simplex
Not segregated (CNV in unaffected sibling)
SYT10
leppa_16_ASD_discovery_cases-AU048704
Maternal
Multiplex
Not segregated (CNV not present in affected sibling)
RNU6-400P,RNU6-472P,TUBB8P4,RNA5SP357,DUX4L27,AK6P1,ALG10,SYT10
levy_11_ASD_discovery_cases-11463.p1
Paternal
Simplex
Segregated
RNU6-400P,RNU6-472P,ALG10,SYT10
poultney_13_ASD_discovery_cases-case99HI0999B
Unknown
Unknown (likely multiplex/AGRE)
Unknown
RNU6-400P,RNU6-472P,ALG10,SYT10
sanders_11_ASD_discovery_cases-11014.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11066.p1
Maternal
Simplex (quad-proband unmatched)
Unknown
sanders_11_ASD_discovery_cases-11090.p1
Paternal
Simplex (quad-proband matched)
Segregated
sanders_11_ASD_discovery_cases-11093.p1
Both parents
Simplex (quad-proband matched)
Segregated
sanders_11_ASD_discovery_cases-11108.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11161.p1
Both parents
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11179.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11223.p1
Paternal
Simplex (trio)
NA
sanders_11_ASD_discovery_cases-11276.p1
Both parents
Simplex (quad-proband unmatched)
Unknown
sanders_11_ASD_discovery_cases-11333.p1
Both parents
Simplex (quad-proband matched)
Not segregated
TUBB8P4
sanders_11_ASD_discovery_cases-11333.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11400.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11422.p1
Both parents
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11435.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11453.p1
Unknown
Simplex (quad-proband matched)
Segregated
TUBB8P4,RNA5SP357,DUX4L27
sanders_11_ASD_discovery_cases-11463.p1
Paternal
Simplex (quad-proband matched)
Not segregated
RNU6-400P,RNU6-472P,TUBB8P4,RNA5SP357,DUX4L27,AK6P1,ALG10,SYT10
sanders_11_ASD_discovery_cases-11491.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11584.p1
Maternal
Simplex (quad-proband matched)
Segregated
TUBB8P4,RNA5SP357,DUX4L27,AK6P1
sanders_11_ASD_discovery_cases-11592.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11653.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11665.p1
Both parents
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11715.p1
Both parents
Simplex (quad-proband matched)
Not segregated
TUBB8P4
sanders_11_ASD_discovery_cases-11718.p1
Maternal
Simplex (quad-proband matched)
Not segregated
TUBB8P4
sanders_11_ASD_discovery_cases-11781.p1
Maternal
Simplex (trio)
NA
sanders_11_ASD_discovery_cases-11792.p1
Both parents
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11808.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11909.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11928.p1
Both parents
Simplex (quad-proband matched)
Not segregated
TUBB8P4
sanders_11_ASD_discovery_cases-11935.p1
Paternal
Simplex (quad-proband matched)
Not segregated
TUBB8P4,RNA5SP357,DUX4L27,AK6P1
sanders_11_ASD_discovery_cases-11939.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11946.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11981.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11986.p1
Unknown
Simplex (quad-proband matched)
Not segregated
TUBB8P4,RNA5SP357
sanders_11_ASD_discovery_cases-12032.p1
Unknown
Simplex (quad-proband matched)
Not segregated
TUBB8P4,RNA5SP357,DUX4L27
sanders_11_ASD_discovery_cases-12037.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12066.p1
Maternal
Simplex (quad-proband unmatched)
Unknown
TUBB8P4
sanders_11_ASD_discovery_cases-12101.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12103.p1
Maternal
Simplex (quad-proband unmatched)
Unknown
sanders_11_ASD_discovery_cases-12117.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12121.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12212.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12215.p1
Both parents
Simplex (trio)
NA
sanders_11_ASD_discovery_cases-12340.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12343.p1
Paternal
Simplex (quad-proband matched)
Not segregated
TUBB8P4
sanders_11_ASD_discovery_cases-12360.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12373.p1
Both parents
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12377.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12555.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12622.p1
Both parents
Simplex (quad-proband unmatched)
Unknown
TUBB8P4
sanders_11_ASD_discovery_cases-12690.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12787.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12939.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12939.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12997.p1
Unknown
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12997.p1
Both parents
Simplex (quad-proband matched)
Not segregated
TUBB8P4
sanders_11_ASD_discovery_cases-13012.p1
Paternal
Simplex (quad-proband matched)
Not segregated
TUBB8P4,RNA5SP357
sanders_11_ASD_discovery_cases-13036.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-13065.p1
Maternal
Simplex (trio)
NA
sanders_11_ASD_discovery_cases-13082.p1
Unknown
Simplex (quad-proband matched)
Not segregated
TUBB8P4,RNA5SP357
sanders_11_ASD_discovery_cases-13187.p1
Paternal
Simplex (quad-proband matched)
Not segregated
Controls
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
chen_17_ASD_discovery_controls1-control19
Unknown
RNU6-472P,TUBB8P4,RNA5SP357,DUX4L27,AK6P1,ALG10
engchuan_15_ASD_discovery_controls-controlHABC_900267_900267
Unknown
RNU6-400P,RNU6-472P,ALG10,SYT10
engchuan_15_ASD_discovery_controls-controlHABC_900493_900493
Unknown
engchuan_15_ASD_discovery_controls-controlHABC_902846_902846
Unknown
RNU6-400P,RNU6-472P,TUBB8P4,RNA5SP357,DUX4L27,AK6P1,ALG10,SYT10
girirajan_13b_ASD_discovery_controls-11408109472
Unknown
girirajan_13b_ASD_discovery_controls-11806105859
Unknown
girirajan_13b_ASD_discovery_controls-12110113024
Unknown
girirajan_13b_ASD_discovery_controls-12907107979
Unknown
RNU6-400P,RNU6-472P,TUBB8P4,RNA5SP357,DUX4L27,AK6P1,ALG10,SYT10
girirajan_13b_ASD_discovery_controls-12907107979
Unknown
TUBB8P4,RNA5SP357,DUX4L27,AK6P1
girirajan_13b_ASD_discovery_controls-12907107979
Unknown
RNU6-400P,RNU6-472P,ALG10,SYT10
girirajan_13b_ASD_discovery_controls-13703100328
Unknown
girirajan_13b_ASD_discovery_controls-17203100441
Unknown
girirajan_13b_ASD_discovery_controls-25204100801
Unknown
girirajan_13b_ASD_discovery_controls-27309111520
Unknown
girirajan_13b_ASD_discovery_controls-27309111520
Unknown
RNU6-400P,RNU6-472P,ALG10,SYT10
girirajan_13b_ASD_discovery_controls-3208108937
Unknown
girirajan_13b_ASD_discovery_controls-60105104570
Unknown
krumm_15_ASD_discovery_controls-control13180.s1
1M-Duov3
Maternal
SYT10
krumm_15_ASD_discovery_controls-control13697.s1
Omni2.5-4v1
Maternal
RNU6-400P,RNU6-472P,ALG10,SYT10
krumm_15_ASD_discovery_controls-control13739.s1
Omni2.5-4v1
Maternal
SYT10
nord_11_ASD_discovery_controls-04C28249
SYT10
poultney_13_ASD_discovery_controls-control05C45248
Unknown
RNU6-400P,RNU6-472P,ALG10,SYT10
sanders_11_ASD_discovery_controls-11011.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11055.s1
Both parents
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11057.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11108.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11277.s1
Both parents
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11422.s1
Both parents
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11435.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11472.s1
Both parents
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11473.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11494.s1
Both parents
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11556.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11584.s1
Paternal
Simplex (quad)
NA
AK6P1
sanders_11_ASD_discovery_controls-11711.s1
Both parents
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11714.s1
Both parents
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11716.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11792.s1
Both parents
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11798.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11808.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11843.s1
Both parents
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11909.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11933.s1
Both parents
Simplex (quad)
NA
TUBB8P4
sanders_11_ASD_discovery_controls-11959.s1
Unknown
Simplex (quad)
NA
TUBB8P4
sanders_11_ASD_discovery_controls-11981.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12015.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12037.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12062.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12073.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12101.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12130.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12153.s1
Both parents
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12154.s1
Both parents
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12228.s1
Both parents
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12360.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12445.s1
Unknown
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12690.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12784.s1
Both parents
Simplex (quad)
NA
TUBB8P4
sanders_11_ASD_discovery_controls-12859.s1
Unknown
Simplex (quad)
NA
TUBB8P4,RNA5SP357,DUX4L27
sanders_11_ASD_discovery_controls-12867.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12867.s1
Paternal
Simplex (quad)
NA
TUBB8P4
sanders_11_ASD_discovery_controls-12939.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12944.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12977.s1
Both parents
Simplex (quad)
NA
TUBB8P4
sanders_11_ASD_discovery_controls-12997.s1
Both parents
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-13175.s1
Both parents
Simplex (quad)
NA
wang_10_ASD_discovery_controls-Aut39
Unknown
NA
NA
RNU6-400P,RNU6-472P,TUBB8P4,RNA5SP357,DUX4L27,AK6P1,ALG10,SYT10
No Animal Model Data Available