7p15.1CNV Type: Deletion-Duplication
Largest CNV size: 327356 bp
Statistics Box:
Number of Reports: 9
Number of Reports: 9
Summary Information
Summary statement in development
Additional Locus Information
References
Major Reports
Title
Author, Year
Report Class
CNV Type
Functional impact of global rare copy number variation in autism spectrum disorders.
Duplication
An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabili...
Deletion
Minor Reports
Title
Author, Year
Report Class
CNV Type
Rare structural variation of synapse and neurotransmission genes in autism.
Deletion
Multiple recurrent de novo CNVs, including duplications of the 7q11.23 Williams syndrome region, are strongly associated with autism.
Deletion-Duplication
Rare de novo and transmitted copy-number variation in autistic spectrum disorders.
Duplication
Relative burden of large CNVs on a range of neurodevelopmental phenotypes.
Duplication
Refinement and discovery of new hotspots of copy-number variation associated with autism spectrum disorder.
Duplication
Both rare and de novo copy number variants are prevalent in agenesis of the corpus callosum but not in cerebellar hypoplasia or polymicrogyria.
Duplication
Performance of case-control rare copy number variation annotation in classification of autism.
Deletion-Duplication
Cases
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
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
327355
3
2
5
gai_11_ASD_discovery_cases
Discovery case samples derived from AGRE set 4 (most recent patient recruitment)
631
Idiopathic autism; cases designated as 'spectrum' and 'not quite autism' excluded, as were cases with known genetic syndromes or other non-idiopathic causes
45492
2
0
2
girirajan_11_ASD_discovery_cases
ASD cases with sporadic autism from the Simons Simplex Collection (SSC)
336
Diagnosis of ASD based on meeting criteria on ADOS, ADI-R, and expert clinical judgment. 246 cases with no intellectual disability, 90 cases with intellectual disability. Exclusion criteria: significant hearing, vision, or motor problems; significant birth complications; a diagnosis of ASD-related disorders, such as Fragile X; or having a relative (up to 3rd degree) with ASD or sibling showing ASD-related symptoms.
118699
0
1
1
girirajan_13a_ASD_discovery_cases
1979 simplex cases from the Simons Simplex Collection (SSC), 579 multiplex cases from AGRE.
2588
Diagnosis of ASD based on meeting criteria on the Autism Diagnostic Observation Schedule (ADOS) and on the Autism Diagnostic Interview, Revised (ADI-R)
NA
NA
327000
0
1
1
kaminsky_11_DD/ID/ASD_discovery_cases
Cases from the International Standards for Cytogenomic Arrays (ISCA) consortium
15749
Unexplained developmental delay, intellectual disability, dysmorphic features, multiple congenital anomalies, autism spectrum disorders, or clinical features suggestive of a chromosomal syndrome
NA
NA
428029
1
0
1
levy_11_ASD_discovery_cases
Autistic probands from 887 families from the Simons Simplex Collection (SSC)
858
ASD
87.06% Male
126119
0
1
1
pinto_10_ASD_discovery_cases
Autism Genome Project (AGP) consortium patient cohort from families with at least two ASD individuals
996
ASD (ADI-R and ADOS): strict, broad, or spectrum ASD
327356
0
1
1
sajan_13_ACC/CBLH/PMG_discovery_cases
Individuals with severe congenital brain malformations [agenesis of the corpus callosum (ACC), cerebellar hypoplasia (CBLH), and/or polymicrogyria (PMG)] and additional neurodevelopmental phenotypes
487
Diagnosis of agenesis of the corpus callosum (ACC), cerebellar hypoplasia (CBLH), and/or polymicrogyria (PMG); additional diagnoses of autism spectrum disorder (ASD), developmental delay (DD), intellectual disability (ID) and/or seizures in some patients
N/A
N/A
83116
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
121094
40
4
44
Controls
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
engchuan_15_ASD_discovery_controls
Platform-matched controls from three large studies: SAGE (Study of Addiction Genetics and Environment), Ontario Colorectal Cancer study, and HABC (Health Aging and Body Composition)
2342
Controls; subjects had no previous psychiatric history
N/A
46.67% Male
108661
1
0
1
girirajan_11_ASD_discovery_controls
Control individuals ascertained by NIMH Genetics Initiative. DNA samples from these individuals were obtained from the Rutgers Univ. Cell & DNA Repository.
337
Control. Individuals screened specifically for eight mental health disorders.
118699
0
0
0
kaminsky_11_DD/ID/ASD_discovery_controls
Controls from the International Standards for Cytogenomic Arrays (ISCA) consortium
10118
Controls
NA
NA
NA
NA
NA
NA
levy_11_ASD_discovery_controls
Unaffected siblings of autistic probands from 887 families from the Simons Simplex Collection (SSC)
863
Control
47.97% Male
126119
0
1
1
nord_11_ASD_discovery_controls
Samples from 367 total control individuals (319 European American, 48 African American) used to test for differences in rare CNV prevalence compared with autism cases
123
Controls (no history of psychiatric symptoms by self-report)
30 yrs.
12146
1
0
1
sanders_11_ASD_discovery_controls
Matched siblings of autistic probands from the Simons Simplex Collection (SSC).
872
Controls
Mean, 10.0 yrs.
121094
29
3
32
Cases
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
engchuan_15_ASD_discovery_cases
Caucasian
Solid phase hybridization
Illumina 1M
None
gai_11_ASD_discovery_cases
European
Solid phase hybridization
Illumina Infinium II HumanHap550 BeadChip
BeadStudio 3.0
None
girirajan_11_ASD_discovery_cases
aCGH
Custom microarray targeting 107 genomic hotspot regions (Roche NimbleGen Hotspot v1.0 array; 12 x 135K)
HMM
None
girirajan_13a_ASD_discovery_cases
NA
aCGH
Custom microarray with a high density of probes targeted to 1,367 regions with a susceptible genomic architecture
ADM-2
Agilent Genomic Workbench
None
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
levy_11_ASD_discovery_cases
aCGH
NimbleGen HD2
HMM
pinto_10_ASD_discovery_cases
European
Solid phase hybridization
Illumina Infinium 1M SNP microarray
QuantiSNP, iPattern
qPCR, long-range PCR (LR-PCR), MLPA, FISH, aCGH (Agilent 1M), array SNP (Affymetrix 500K)
sajan_13_ACC/CBLH/PMG_discovery_cases
81.31% Caucasian
Solid phase hybridization
Illumina InfiniumII HumanHap610
PennCNV
None (not tested or failure to confirm by qPCR)
sanders_11_ASD_discovery_cases
White non-Hispanic, 74.5%; mixed, 9.3%, Asian, 4.3%, White Hispanic, 4.0%, African-American, 3.8%; other, 4.2&
Solid phase hybridization
Illumina 1M v1, Illumina 1M v3
PennCNV, QuantiSNP, GNOSIS
Controls
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
engchuan_15_ASD_discovery_controls
Caucasian
Solid phase hybridization
Illumina 1M
None
girirajan_11_ASD_discovery_controls
aCGH
Custom microarray targeting 107 genomic hotspot regions (Roche NimbleGen Hotspot v1.0 array; 12 x 135K)
HMM
kaminsky_11_DD/ID/ASD_discovery_controls
NA
aCGH
Agilent 44K, Agilent 105K
Feature Extraction, DNA Analytics
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
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
engchuan_15_ASD_discovery_cases-case13022_293
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
30786146
30878748
92603
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case16064_1571160001
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
29634201
29738635
104435
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case3581_3
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
29777033
29859259
82227
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case6127_3
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
29169736
29497091
327356
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case6162_4
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
30438440
30587241
148802
GRCh38
Deletion
No
gai_11_ASD_discovery_cases-AU1296301
Autism
28630355
28675381
45027
Unknown
Deletion
No
gai_11_ASD_discovery_cases-AU1296302
Autism
28630355
28675846
45492
Unknown
Deletion
No
girirajan_13a_ASD_discovery_cases-14237.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
29173859
29503859
330001
GRCh38
Duplication
No
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005310
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
29368207
29796236
428030
GRCh38
Deletion
Yes
levy_11_ASD_discovery_cases-11106.p1
NA
M
ASD
NA
NA
31576698
31702816
126119
GRCh38
Duplication
No
pinto_10_ASD_discovery_cases-case6127_3
NA
F
Autism
Language delay, normal physical exam, no epilepsy
Severe MR
29169736
29497091
327356
GRCh38
Duplication
Yes
sajan_13_ACC/CBLH/PMG_discovery_cases-caseLR04-371
N/A
N/A
CBLH
Diagnosis of cerebellar hypoplasia (CBLH).
29650873
29733988
83116
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11055.p1
12.2
M
Autism
NA
Full-scale IQ, 28; non-verbal IQ, 32; verbal IQ, 19
29649211
29650119
909
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11106.p1
6.3
M
Autism
NA
Full-scale IQ, 57; non-verbal IQ, 65; verbal IQ, 51
31578923
31700017
121095
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11131.p1
7.6
M
Autism
NA
Full-scale IQ, 80; non-verbal IQ, 75; verbal IQ 96
29649211
29649402
192
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11252.p1
6.3
M
Autism
NA
Full-scale IQ, 78; non-verbal IQ, 72; verbal IQ, 96
29646867
29649402
2536
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11262.p1
6.2
M
Autism
NA
Full-scale IQ, 84; non-verbal IQ, 85; verbal IQ, 89
29634201
29733988
99788
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11283.p1
12
M
Autism
NA
Full-scale IQ, 117; non-verbal IQ, 132; verbal IQ 84
29649211
29650119
909
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11480.p1
7.9
M
Autism
NA
Full-scale IQ, 35; non-verbal IQ, 41; verbal IQ, 24
29649211
29650119
909
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11625.p1
11.6
M
Autism
NA
Full-scale IQ, 34; non-verbal IQ, 44; verbal IQ, 14
29649211
29650119
909
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
29649211
29650119
909
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11689.p1
13.8
M
Autism
NA
Full-scale IQ, 94; non-verbal IQ, 87; verbal IQ, 107
29649211
29650119
909
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11723.p1
6.9
M
ASD
NA
Full-scale IQ, 104; non-verbal IQ, 103; verbal IQ, 105
29649211
29650119
909
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11753.p1
17.3
M
Autism
NA
Full-scale IQ, 111; non-verbal IQ, 100; verbal IQ, 128
29646867
29650119
3253
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11878.p1
9.5
M
Autism
NA
Full-scale IQ, 78; non-verbal IQ, 72; verbal IQ, 94
29649211
29650119
909
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11942.p1
10.3
M
Autism
NA
Full-scale IQ, 50; non-verbal IQ, 44; verbal IQ, 62
29649211
29650119
909
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
29649211
29650119
909
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11999.p1
5.8
F
Autism
NA
Full-scale IQ, 58; non-verbal IQ, 55; verbal IQ, 75
29650873
29738635
87763
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12057.p1
12.1
M
Autism
NA
Full-scale IQ, 43; non-verbal IQ, 50; verbal IQ, 29
29649211
29650119
909
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12130.p1
8.4
F
Autism
NA
Full-scale IQ, 54; non-verbal IQ, 55; verbal IQ, 62
29649211
29650119
909
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12170.p1
7.8
F
ASD
NA
Full-scale IQ, 80; non-verbal IQ, 85; verbal IQ, 77
29649211
29650873
1663
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12184.p1
12.9
F
Autism
NA
Full-scale IQ, 28; non-verbal IQ, 31; verbal IQ, 21
30403619
30425808
22190
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12225.p1
15.3
M
Autism
NA
Full-scale IQ, 81; non-verbal IQ, 89; verbal IQ, 77
29649211
29650119
909
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12229.p1
10.1
M
Autism
NA
Full-scale IQ, 84; non-verbal IQ, 89; verbal IQ, 80
29650873
29744895
94023
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
29649211
29650119
909
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12310.p1
9.5
M
Autism
NA
Full-scale IQ, 59; non-verbal IQ, 71; verbal IQ, 35
29649211
29650119
909
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
29649211
29650119
909
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12350.p1
11.8
M
Autism
NA
Full-scale IQ, 86; non-verbal IQ, 102; verbal IQ, 61
29649211
29650119
909
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12361.p1
4.8
M
ASD
NA
Full-scale IQ, 115; non-verbal IQ, 123; verbal IQ, 98
30356515
30369230
12716
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12405.p1
6.3
M
Autism
NA
Full-scale IQ, 101; non-verbal IQ, 102; verbal IQ, 99
29646867
29650119
3253
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12423.p1
10.1
M
Autism
NA
Full-scale IQ, 104; non-verbal IQ, 115; verbal IQ, 82
29646867
29650119
3253
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12437.p1
10.1
M
Autism
NA
Full-scale IQ, 75; non-verbal IQ, 78; verbal IQ, 72
29649211
29650119
909
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12505.p1
5.3
M
ASD
NA
Full-scale IQ, 75; non-verbal IQ, 87; verbal IQ, 48
29649211
29650119
909
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12532.p1
11.8
M
Autism
NA
Full-scale IQ, 121; non-verbal IQ, 110; verbal IQ, 135
29649211
29650119
909
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12540.p1
6.9
F
Autism
NA
Full-scale IQ, 104; non-verbal IQ, 104; verbal IQ, 105
29649211
29650119
909
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12674.p1
6.5
M
Autism
NA
Full-scale IQ, 87; non-verbal IQ, 92; verbal IQ, 86
29649211
29650119
909
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12685.p1
16
M
Autism
NA
Full-scale IQ, 100; non-verbal IQ, 99; verbal IQ, 102
30356515
30369230
12716
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12695.p1
12.3
M
Autism
NA
Full-scale IQ, 49; non-verbal IQ, 56; verbal IQ, 35
29649211
29650119
909
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12805.p1
8.5
F
Autism
NA
Full-scale IQ, 100; non-verbal IQ, 104; verbal IQ, 93
29649211
29650119
909
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12817.p1
9.4
M
Autism
NA
Full-scale IQ, 36; non-verbal IQ, 34; verbal IQ, 37
29649211
29650119
909
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12944.p1
7.9
M
ASD
NA
Full-scale IQ, 77; non-verbal IQ, 84; verbal IQ, 60
29649211
29650119
909
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12976.p1
4.9
M
Autism
NA
Full-scale IQ, 81; non-verbal IQ, 85; verbal IQ, 82
29649211
29650119
909
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-13070.p1
8.9
M
Autism
NA
Full-scale IQ, 86; non-verbal IQ, 96; verbal IQ, 85
29649211
29650119
909
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-13153.p1
9.3
M
Autism
NA
Full-scale IQ, 75; non-verbal IQ, 86; verbal IQ, 59
29649211
29650119
909
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-13251.p1
7.7
F
Autism
NA
Full-scale IQ, 95; non-verbal IQ, 93; verbal IQ, 102
30356515
30369230
12716
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-13304.p1
6.9
M
Autism
NA
Full-scale IQ, 74; non-verbal IQ, 61; verbal IQ, 111
29649211
29650119
909
GRCh38
Deletion
No
Controls
Patient ID
Author, Year
Age
Gender
Primary Diagnosis
Clinical Profile
Cognitive Profile
CNV Start
CNV End
CNV Size
Genome Build
Type Method
Validation
engchuan_15_ASD_discovery_controls-controlB368961_1007872308
N/A
N/A
Control
No previous psychiatric history
29634201
29742862
108662
GRCh38
Deletion
No
levy_11_ASD_discovery_controls-11106.s1
NA
M
Control
NA
NA
31576698
31702816
126119
GRCh38
Duplication
No
nord_11_ASD_discovery_controls-04C27219
Control
28933907
28946052
12146
Unknown
Deletion
sanders_11_ASD_discovery_controls-11106.s1
7.2
M
Control (matched sibling)
NA
NA
31578923
31700017
121095
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11262.s1
4.8
M
Control (matched sibling)
NA
NA
29634201
29733988
99788
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11318.s1
5.7
M
Control (matched sibling)
NA
NA
28932341
28940469
8129
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11398.s1
13.8
M
Control (matched sibling)
NA
NA
29649211
29649402
192
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11567.s1
7.7
M
Control (matched sibling)
NA
NA
30403619
30425808
22190
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11567.s1
7.7
M
Control (matched sibling)
NA
NA
30359999
30366855
6857
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11600.s1
19.2
M
Control (matched sibling)
NA
NA
29649211
29650119
909
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11620.s1
15.1
F
Control (matched sibling)
NA
NA
29649211
29650119
909
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11645.s1
11.2
F
Control (matched sibling)
NA
NA
29649211
29650119
909
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11677.s1
11.8
F
Control (matched sibling)
NA
NA
29649211
29650119
909
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11691.s1
16.3
M
Control (matched sibling)
NA
NA
29649211
29650119
909
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11711.s1
7
M
Control (matched sibling)
NA
NA
29649211
29650119
909
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11808.s1
12.2
F
Control (matched sibling)
NA
NA
29649211
29650119
909
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11810.s1
4.4
F
Control (matched sibling)
NA
NA
29649211
29650119
909
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11977.s1
13.3
F
Control (matched sibling)
NA
NA
29649211
29650119
909
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11986.s1
9
F
Control (matched sibling)
NA
NA
29649211
29650119
909
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11999.s1
4.3
F
Control (matched sibling)
NA
NA
29650873
29738635
87763
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-12308.s1
9.6
M
Control (matched sibling)
NA
NA
29649211
29650119
909
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12334.s1
4.2
M
Control (matched sibling)
NA
NA
29649211
29650119
909
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12361.s1
7.3
M
Control (matched sibling)
NA
NA
30356515
30369230
12716
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12418.s1
11.7
M
Control (matched sibling)
NA
NA
29649211
29650119
909
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12613.s1
12.6
M
Control (matched sibling)
NA
NA
29649211
29650119
909
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12621.s1
8.8
M
Control (matched sibling)
NA
NA
30355272
30371349
16078
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12645.s1
11.3
M
Control (matched sibling)
NA
NA
29649211
29650119
909
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12695.s1
14.1
M
Control (matched sibling)
NA
NA
29649211
29650119
909
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12865.s1
5.8
M
Control (matched sibling)
NA
NA
30356515
30367151
10637
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12944.s1
4.8
M
Control (matched sibling)
NA
NA
29649211
29650119
909
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12964.s1
8.5
M
Control (matched sibling)
NA
NA
30407404
30425419
18016
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12976.s1
8.5
M
Control (matched sibling)
NA
NA
29649211
29650119
909
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-13012.s1
4.3
F
Control (matched sibling)
NA
NA
29649211
29650119
909
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-13016.s1
9.5
F
Control (matched sibling)
NA
NA
29649211
29650119
909
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-13296.s1
4.3
F
Control (matched sibling)
NA
NA
30407404
30425419
18016
GRCh38
Deletion
No
Cases
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
engchuan_15_ASD_discovery_cases-case13022_293
Unknown
INMT-MINDY4,MINDY4
engchuan_15_ASD_discovery_cases-case16064_1571160001
Unknown
MIR550A3,DPY19L2P3,ZNRF2P2
engchuan_15_ASD_discovery_cases-case3581_3
Unknown
WIPF3
engchuan_15_ASD_discovery_cases-case6127_3
Unknown
NANOGP4,CPVL,CHN2
engchuan_15_ASD_discovery_cases-case6162_4
Unknown
GGCT,NOD1,GARS-DT
gai_11_ASD_discovery_cases-AU1296301
Inherited
CREB5 (intronic)
gai_11_ASD_discovery_cases-AU1296302
Inherited
CREB5 (intronic)
girirajan_13a_ASD_discovery_cases-14237.p1
Unknown
Simplex
Unknown
NANOGP4,CPVL,CHN2
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005310
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
PRR15,TMSB4XP3,MIR550A3,DPY19L2P3,ZNRF2P2,CHN2
levy_11_ASD_discovery_cases-11106.p1
Maternal
Simplex
Not segregated
PPP1R17,ITPRID1
pinto_10_ASD_discovery_cases-case6127_3
qPCR-Paternal
paternal
Simplex
NA
NANOGP4,CPVL,CHN2
sajan_13_ACC/CBLH/PMG_discovery_cases-caseLR04-371
Not tested by qPCR
Unknown
Unknown
Unknown
MIR550A3,DPY19L2P3,ZNRF2P2
sanders_11_ASD_discovery_cases-11055.p1
Paternal
Simplex (quad-proband matched)
Segregated
ZNRF2P2
sanders_11_ASD_discovery_cases-11106.p1
Maternal
Simplex (quad-proband matched)
Not segregated
PPP1R17,ITPRID1
sanders_11_ASD_discovery_cases-11131.p1
Maternal
Simplex (trio)
NA
ZNRF2P2
sanders_11_ASD_discovery_cases-11252.p1
Maternal
Simplex (quad-proband matched)
Segregated
ZNRF2P2
sanders_11_ASD_discovery_cases-11262.p1
Paternal
Simplex (quad-proband matched)
Not segregated
MIR550A3,DPY19L2P3,ZNRF2P2
sanders_11_ASD_discovery_cases-11283.p1
Both parents
Simplex (quad-proband unmatched)
Unknown
ZNRF2P2
sanders_11_ASD_discovery_cases-11480.p1
Paternal
Simplex (quad-proband matched)
Not segregated
ZNRF2P2
sanders_11_ASD_discovery_cases-11625.p1
Both parents
Simplex (quad-proband matched)
Segregated
ZNRF2P2
sanders_11_ASD_discovery_cases-11665.p1
Paternal
Simplex (quad-proband matched)
Not segregated
ZNRF2P2
sanders_11_ASD_discovery_cases-11689.p1
Maternal
Simplex (trio)
NA
ZNRF2P2
sanders_11_ASD_discovery_cases-11723.p1
Both parents
Simplex (quad-proband matched)
Not segregated
ZNRF2P2
sanders_11_ASD_discovery_cases-11753.p1
Maternal
Simplex (quad-proband matched)
Not segregated
ZNRF2P2
sanders_11_ASD_discovery_cases-11878.p1
Maternal
Simplex (trio)
NA
ZNRF2P2
sanders_11_ASD_discovery_cases-11942.p1
Maternal
Simplex (quad-proband matched)
Not segregated
ZNRF2P2
sanders_11_ASD_discovery_cases-11986.p1
Both parents
Simplex (quad-proband matched)
Not segregated
ZNRF2P2
sanders_11_ASD_discovery_cases-11999.p1
Paternal
Simplex (quad-proband matched)
Not segregated
MIR550A3,DPY19L2P3,ZNRF2P2
sanders_11_ASD_discovery_cases-12057.p1
Maternal
Simplex (quad-proband matched)
Not segregated
ZNRF2P2
sanders_11_ASD_discovery_cases-12130.p1
Maternal
Simplex (quad-proband matched)
Not segregated
ZNRF2P2
sanders_11_ASD_discovery_cases-12170.p1
Paternal
Simplex (quad-proband matched)
Not segregated
DPY19L2P3,ZNRF2P2
sanders_11_ASD_discovery_cases-12184.p1
Unknown
Simplex (quad-proband matched)
Not segregated
NOD1,LINC01176
sanders_11_ASD_discovery_cases-12225.p1
Unknown
Simplex (quad-proband matched)
Not segregated
ZNRF2P2
sanders_11_ASD_discovery_cases-12229.p1
Maternal
Simplex (quad-proband matched)
Not segregated
MIR550A3,DPY19L2P3,ZNRF2P2
sanders_11_ASD_discovery_cases-12274.p1
Paternal
Simplex (quad-proband matched)
Not segregated
ZNRF2P2
sanders_11_ASD_discovery_cases-12310.p1
Paternal
Simplex (trio)
NA
ZNRF2P2
sanders_11_ASD_discovery_cases-12343.p1
Maternal
Simplex (quad-proband matched)
Not segregated
ZNRF2P2
sanders_11_ASD_discovery_cases-12350.p1
Both parents
Simplex (trio)
NA
ZNRF2P2
sanders_11_ASD_discovery_cases-12361.p1
Unknown
Simplex (quad-proband matched)
Not segregated
ZNRF2
sanders_11_ASD_discovery_cases-12405.p1
Paternal
Simplex (trio)
NA
ZNRF2P2
sanders_11_ASD_discovery_cases-12423.p1
Maternal
Simplex (quad-proband unmatched)
Unknown
ZNRF2P2
sanders_11_ASD_discovery_cases-12437.p1
Maternal
Simplex (quad-proband matched)
Not segregated
ZNRF2P2
sanders_11_ASD_discovery_cases-12505.p1
Unknown
Simplex (trio)
NA
ZNRF2P2
sanders_11_ASD_discovery_cases-12532.p1
Maternal
Simplex (quad-proband matched)
Not segregated
ZNRF2P2
sanders_11_ASD_discovery_cases-12540.p1
Maternal
Simplex (quad-proband matched)
Not segregated
ZNRF2P2
sanders_11_ASD_discovery_cases-12674.p1
Paternal
Simplex (quad-proband matched)
Not segregated
ZNRF2P2
sanders_11_ASD_discovery_cases-12685.p1
Unknown
Simplex (quad-proband matched)
Not segregated
ZNRF2
sanders_11_ASD_discovery_cases-12695.p1
Paternal
Simplex (quad-proband matched)
Not segregated
ZNRF2P2
sanders_11_ASD_discovery_cases-12805.p1
Maternal
Simplex (trio)
NA
ZNRF2P2
sanders_11_ASD_discovery_cases-12817.p1
Paternal
Simplex (quad-proband matched)
Not segregated
ZNRF2P2
sanders_11_ASD_discovery_cases-12944.p1
Paternal
Simplex (quad-proband matched)
Not segregated
ZNRF2P2
sanders_11_ASD_discovery_cases-12976.p1
Paternal
Simplex (quad-proband matched)
Not segregated
ZNRF2P2
sanders_11_ASD_discovery_cases-13070.p1
Paternal
Simplex (quad-proband matched)
Not segregated
ZNRF2P2
sanders_11_ASD_discovery_cases-13153.p1
Paternal
Simplex (quad-proband matched)
Not segregated
ZNRF2P2
sanders_11_ASD_discovery_cases-13251.p1
Unknown
Simplex (quad-proband matched)
Not segregated
ZNRF2
sanders_11_ASD_discovery_cases-13304.p1
Both parents
Simplex (quad-proband unmatched)
Unknown
ZNRF2P2
Controls
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
engchuan_15_ASD_discovery_controls-controlB368961_1007872308
Unknown
MIR550A3,DPY19L2P3,ZNRF2P2
levy_11_ASD_discovery_controls-11106.s1
Maternal
Simplex
NA
PPP1R17,ITPRID1
nord_11_ASD_discovery_controls-04C27219
0 genes
sanders_11_ASD_discovery_controls-11106.s1
Maternal
Simplex (quad)
NA
PPP1R17,ITPRID1
sanders_11_ASD_discovery_controls-11262.s1
Paternal
Simplex (quad)
NA
MIR550A3,DPY19L2P3,ZNRF2P2
sanders_11_ASD_discovery_controls-11318.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11398.s1
Maternal
Simplex (quad)
NA
ZNRF2P2
sanders_11_ASD_discovery_controls-11567.s1
Unknown
Simplex (quad)
NA
NOD1,LINC01176
sanders_11_ASD_discovery_controls-11567.s1
Maternal
Simplex (quad)
NA
ZNRF2
sanders_11_ASD_discovery_controls-11600.s1
Paternal
Simplex (quad)
NA
ZNRF2P2
sanders_11_ASD_discovery_controls-11620.s1
Maternal
Simplex (quad)
NA
ZNRF2P2
sanders_11_ASD_discovery_controls-11645.s1
Paternal
Simplex (quad)
NA
ZNRF2P2
sanders_11_ASD_discovery_controls-11677.s1
Paternal
Simplex (quad)
NA
ZNRF2P2
sanders_11_ASD_discovery_controls-11691.s1
Maternal
Simplex (quad)
NA
ZNRF2P2
sanders_11_ASD_discovery_controls-11711.s1
Paternal
Simplex (quad)
NA
ZNRF2P2
sanders_11_ASD_discovery_controls-11808.s1
Maternal
Simplex (quad)
NA
ZNRF2P2
sanders_11_ASD_discovery_controls-11810.s1
Maternal
Simplex (quad)
NA
ZNRF2P2
sanders_11_ASD_discovery_controls-11977.s1
Paternal
Simplex (quad)
NA
ZNRF2P2
sanders_11_ASD_discovery_controls-11986.s1
Both parents
Simplex (quad)
NA
ZNRF2P2
sanders_11_ASD_discovery_controls-11999.s1
Paternal
Simplex (quad)
NA
MIR550A3,DPY19L2P3,ZNRF2P2
sanders_11_ASD_discovery_controls-12308.s1
Both parents
Simplex (quad)
NA
ZNRF2P2
sanders_11_ASD_discovery_controls-12334.s1
Maternal
Simplex (quad)
NA
ZNRF2P2
sanders_11_ASD_discovery_controls-12361.s1
Unknown
Simplex (quad)
NA
ZNRF2
sanders_11_ASD_discovery_controls-12418.s1
Maternal
Simplex (quad)
NA
ZNRF2P2
sanders_11_ASD_discovery_controls-12613.s1
Maternal
Simplex (quad)
NA
ZNRF2P2
sanders_11_ASD_discovery_controls-12621.s1
Unknown
Simplex (quad)
NA
ZNRF2
sanders_11_ASD_discovery_controls-12645.s1
Paternal
Simplex (quad)
NA
ZNRF2P2
sanders_11_ASD_discovery_controls-12695.s1
Paternal
Simplex (quad)
NA
ZNRF2P2
sanders_11_ASD_discovery_controls-12865.s1
Unknown
Simplex (quad)
NA
ZNRF2
sanders_11_ASD_discovery_controls-12944.s1
Paternal
Simplex (quad)
NA
ZNRF2P2
sanders_11_ASD_discovery_controls-12964.s1
Unknown
Simplex (quad)
NA
NOD1,LINC01176
sanders_11_ASD_discovery_controls-12976.s1
Paternal
Simplex (quad)
NA
ZNRF2P2
sanders_11_ASD_discovery_controls-13012.s1
Maternal
Simplex (quad)
NA
ZNRF2P2
sanders_11_ASD_discovery_controls-13016.s1
Maternal
Simplex (quad)
NA
ZNRF2P2
sanders_11_ASD_discovery_controls-13296.s1
Paternal
Simplex (quad)
NA
NOD1,LINC01176
No Animal Model Data Available