Xp11.1-q11.1CNV Type: Duplication
Largest CNV size: 3359541 bp
Statistics Box:
Number of Reports: 2
Number of Reports: 2
Summary Information
Summary statement in development
Additional Locus Information
References
Major Reports
Title
Author, Year
Report Class
CNV Type
No Major Reports
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.
Duplication
Amino-Terminal Microdeletion within the CNTNAP2 Gene Associated with Variable Expressivity of Speech Delay.
Unknown
Cases
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
al-murrani_12_DD_discovery_cases
Second child born to non-consanguineous European couple with normal langauge development
1
Speech delay, mild motor delay, and behavioral problems resulting from communication difficulties
3 yrs.
Male
3830856
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
3359541
0
195
195
Controls
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
sanders_11_ASD_discovery_controls
Matched siblings of autistic probands from the Simons Simplex Collection (SSC).
872
Controls
Mean, 10.0 yrs.
3406595
0
97
97
Cases
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
al-murrani_12_DD_discovery_cases
European
Array SNP
Affymetrix 2.7M
Affymetrix ChAS v.1.0.1
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
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
al-murrani_12_DD_discovery_cases-case1
3 yrs.
M
Speech delay
Case referred to genetic service for opinion regarding an abnormal molecular karyotpye result. Birth/neonatal history: uneventful perinatal history, born at term. Developmental milestones: mild motor delay (walking at around 18-20 months), speech late to develop; able to pronounce six words at age of 2.5 years. Language and communication evaluation: uses up to 3 words in sentences; speech difficult to understand. Motor and musculoskeletal evaluation: speech therapist notd presence of reduced tone of orofacial musculature with associated tendency to dribble. Behavioral/psychiatric evaluation: behavioral problems resulting from communication difficulties. Auditory evaluation: normal hearing. Dysmorphic features: none. Growth parameters: normal growth. Family history: second child born to non-consanguineous European couple with normal language development; mother not affected by any learning or speech difficulties; 5-year-old brother with normal language development for his age, but reported to have difficulties in comprehension and following instructions. Mother and brother both carry 7q35/CNTNAP2 deletion.
NA
58060821
62798641
4737821
GRCh38
Unknown
No
sanders_11_ASD_discovery_cases-11009.p1
9
M
Autism
NA
Full-scale IQ, 93; non-verbal IQ, 93; verbal IQ, 96
58537604
62563261
4025658
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11017.p1
4.3
M
Autism
NA
Full-scale IQ, 132; non-verbal IQ, 136; verbal IQ, 116
58537604
62651758
4114155
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11033.p1
6.8
M
Autism
NA
Full-scale IQ, 59; non-verbal IQ, 69; verbal IQ, 56
58537604
62563261
4025658
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11037.p1
9.3
M
Autism
NA
Full-scale IQ, 83; non-verbal IQ, 86; verbal IQ, 83
58405466
62651758
4246293
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11038.p1
7.6
M
Autism
NA
Full-scale IQ, 74; non-verbal IQ, 82; verbal IQ, 67
58405466
62615736
4210271
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11047.p1
10.4
M
Autism
NA
Full-scale IQ, 60; non-verbal IQ, 74; verbal IQ, 36
58405466
62563261
4157796
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11051.p1
12.2
M
Autism
NA
Full-scale IQ, 106; non-verbal IQ, 102; verbal IQ, 114
58405466
62665165
4259700
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11057.p1
8.7
M
Autism
NA
Full-scale IQ, 89; non-verbal IQ, 89; verbal IQ, 95
58519376
62563261
4043886
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11064.p1
8.1
M
Autism
NA
Full-scale IQ, 106; non-verbal IQ, 129; verbal IQ, 86
58537604
62563261
4025658
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
58537604
62651758
4114155
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11073.p1
9.7
M
Autism
NA
Full-scale IQ, 100; non-verbal IQ, 100; verbal IQ, 101
58479863
62651758
4171896
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11077.p1
12.2
M
Autism
NA
Full-scale IQ, 33; non-verbal IQ, 36; verbal IQ, 26
58405466
62651758
4246293
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11087.p1
6.1
M
Autism
NA
Full-scale IQ, 88; non-verbal IQ, 86; verbal IQ 99
58458095
62511015
4052921
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11132.p1
4.3
M
Autism
NA
Full-scale IQ, 47; non-verbal IQ, 49; verbal IQ, 32
58405466
62665165
4259700
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11148.p1
5.7
M
Autism
NA
Full-scale IQ, 86; non-verbal IQ, 82; verbal IQ, 99
58537604
62651758
4114155
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11150.p1
7.6
M
Autism
NA
Full-scale IQ, 61; non-verbal IQ, 64; verbal IQ, 67
58405466
62563261
4157796
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11152.p1
6.7
M
Autism
NA
Full-scale IQ, 57; non-verbal IQ, 61; verbal IQ, 57
58405466
62651758
4246293
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11154.p1
12.8
M
Autism
NA
Full-scale IQ, 90; non-verbal IQ, 86; verbal IQ, 102
58537604
62651758
4114155
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11158.p1
10.7
M
Autism
NA
Full-scale IQ, 55; non-verbal IQ, 71; verbal IQ, 39
58405466
62651758
4246293
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11172.p1
15.9
M
Autism
NA
Full-scale IQ, 63; non-verbal IQ, 60; verbal IQ, 70
58537604
62651758
4114155
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11181.p1
6.3
M
ASD
NA
Full-scale IQ, 86; non-verbal IQ, 81; verbal IQ, 101
58405466
62615736
4210271
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11195.p1
8.1
M
Autism
NA
Full-scale IQ, 89; non-verbal IQ, 93; verbal IQ, 86
58405466
62563261
4157796
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11200.p1
6.8
M
Autism
NA
Full-scale IQ, 135; non-verbal IQ, 128; verbal IQ, 134
58537604
62563261
4025658
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11201.p1
8.3
M
Autism
NA
Full-scale IQ, 62; non-verbal IQ, 78; verbal IQ, 44
58405466
62665165
4259700
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11218.p1
10.5
M
Autism
NA
Full-scale IQ, 109; non-verbal IQ, 119; verbal IQ, 98
58405466
62615736
4210271
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11227.p1
9.7
M
Autism
NA
Full-scale IQ, 80; non-verbal IQ, 93; verbal IQ, 63
58537604
62651758
4114155
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11242.p1
5.8
M
Autism
NA
Full-scale IQ, 94; non-verbal IQ, 97; verbal IQ, 93
58405466
62615736
4210271
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11249.p1
5.6
M
Autism
NA
Full-scale IQ, 80; non-verbal IQ, 87; verbal IQ 74
58458095
62651758
4193664
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11252.p1
6.3
M
Autism
NA
Full-scale IQ, 78; non-verbal IQ, 72; verbal IQ, 96
58537604
62651758
4114155
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11265.p1
14.3
M
Aspergers
NA
Full-scale IQ, 106; non-verbal IQ, 98; verbal IQ, 120
58537604
62615736
4078133
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11276.p1
7.7
M
Autism
NA
Full-scale IQ, 63; non-verbal IQ, 81; verbal IQ 59
58405466
62615736
4210271
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11289.p1
6
M
Autism
NA
Full-scale IQ, 82; non-verbal IQ, 98; verbal IQ, 62
58506044
62665165
4159122
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
58405466
62651758
4246293
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11343.p1
8.3
M
ASD
NA
Full-scale IQ, 87; non-verbal IQ, 90; verbal IQ 87
58458095
62511015
4052921
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11346.p1
11
M
Autism
NA
Full-scale IQ, 133; non-verbal IQ, 132; verbal IQ, 121
58405466
62665165
4259700
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11350.p1
9.1
M
Autism
NA
Full-scale IQ, 80; non-verbal IQ, 92; verbal IQ, 93
58537604
62563261
4025658
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11355.p1
8.8
M
ASD
NA
Full-scale IQ, 69; non-verbal IQ, 73; verbal IQ, 67
58405466
62651758
4246293
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11359.p1
5.5
M
ASD
NA
Full-scale IQ, 88; non-verbal IQ, 96; verbal IQ, 81
58405466
62651758
4246293
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11424.p1
6.8
M
Autism
NA
Full-scale IQ, 92; non-verbal IQ, 97; verbal IQ, 90
58537604
62651758
4114155
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11429.p1
11.3
M
Autism
NA
Full-scale IQ, 99; non-verbal IQ, 97; verbal IQ, 102
58519376
62563261
4043886
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11439.p1
6.8
M
Autism
NA
Full-scale IQ, 98; non-verbal IQ, 94; verbal IQ, 108
58405466
62651758
4246293
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11445.p1
8.1
M
Autism
NA
Full-scale IQ, 90; non-verbal IQ, 90; verbal IQ, 67
58405466
62615736
4210271
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11447.p1
6.6
M
Autism
NA
Full-scale IQ, 89; non-verbal IQ, 97; verbal IQ, 82
58405466
62651758
4246293
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11452.p1
8.5
M
Autism
NA
Full-scale IQ, 80; non-verbal IQ, 80; verbal IQ, 85
58405466
62615736
4210271
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11453.p1
8.8
M
ASD
NA
Full-scale IQ, 111; non-verbal IQ, 111; verbal IQ, 109
58405466
62615736
4210271
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
58405466
62651758
4246293
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11465.p1
11.4
M
Autism
NA
Full-scale IQ, 87; non-verbal IQ, 73; verbal IQ, 95
58405466
62651758
4246293
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11466.p1
9.2
M
Aspergers
NA
Full-scale IQ, 121; non-verbal IQ, 121; verbal IQ, 113
58405466
62563261
4157796
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11494.p1
17.3
M
Autism
NA
Full-scale IQ, 108; non-verbal IQ, 107; verbal IQ, 109
58405466
62651758
4246293
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11495.p1
5.2
M
Autism
NA
Full-scale IQ, 118; non-verbal IQ, 113; verbal IQ, 120
58537604
62563261
4025658
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11498.p1
7.3
M
Autism
NA
Full-scale IQ, 113; non-verbal IQ, 102; verbal IQ, 110
58405466
62651758
4246293
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11509.p1
16.8
M
Autism
NA
Full-scale IQ, 80; non-verbal IQ, 83; verbal IQ, 80
58537604
62665165
4127562
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11544.p1
15.5
M
Autism
NA
Full-scale IQ, 115; non-verbal IQ, 112; verbal IQ, 113
58537604
62651758
4114155
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11551.p1
15.5
M
Autism
NA
Full-scale IQ, 98; non-verbal IQ, 101; verbal IQ, 95
58405466
62651758
4246293
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
58405466
62615736
4210271
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
58426161
62615736
4189576
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11597.p1
12.3
M
Autism
NA
Full-scale IQ, 130; non-verbal IQ, 118; verbal IQ, 128
58537604
62651758
4114155
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11609.p1
5.3
M
Autism
NA
Full-scale IQ, 78; non-verbal IQ, 79; verbal IQ, 83
58529272
62511015
3981744
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11612.p1
10.6
M
Autism
NA
Full-scale IQ, 84; non-verbal IQ, 90; verbal IQ, 79
58458095
62579125
4121031
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11627.p1
5.7
M
ASD
NA
Full-scale IQ, 92; non-verbal IQ, 100; verbal IQ, 83
58455891
62579125
4123235
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11642.p1
5.3
M
ASD
NA
Full-scale IQ, 77; non-verbal IQ, 71; verbal IQ, 88
58470201
62651758
4181558
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11645.p1
8.7
M
Autism
NA
Full-scale IQ, 94; non-verbal IQ, 105; verbal IQ, 77
58405466
62651758
4246293
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11657.p1
4.9
M
Autism
NA
Full-scale IQ, 71; non-verbal IQ, 75; verbal IQ, 73
58405466
62651758
4246293
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11665.p1
9.9
M
Autism
NA
Full-scale IQ, 72; non-verbal IQ, 79; verbal IQ, 65
58405466
62671970
4266505
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11666.p1
7.7
M
Autism
NA
Full-scale IQ, 49; non-verbal IQ, 51; verbal IQ, 51
58455891
62651758
4195868
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11667.p1
5
M
Autism
NA
Full-scale IQ, 53; non-verbal IQ, 56; verbal IQ, 51
58405466
62651758
4246293
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11673.p1
6.3
M
Aspergers
NA
Full-scale IQ, 83; non-verbal IQ, 81; verbal IQ, 92
58405466
62651758
4246293
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11677.p1
7.9
M
Autism
NA
Full-scale IQ, 101; non-verbal IQ, 100; verbal IQ, 103
58405466
62651758
4246293
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
58455891
62615736
4159846
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11680.p1
8
M
Autism
NA
Full-scale IQ, 71; non-verbal IQ, 82; verbal IQ, 54
58458095
62651758
4193664
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11685.p1
5.3
M
ASD
NA
Full-scale IQ, 98; non-verbal IQ, 96; verbal IQ, 104
58405466
62579125
4173660
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11691.p1
14.7
M
Autism
NA
Full-scale IQ, 59; non-verbal IQ, 62; verbal IQ, 54
58405466
62651758
4246293
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11694.p1
8.8
M
Autism
NA
Full-scale IQ, 99; non-verbal IQ, 89; verbal IQ, 116
58529272
62511015
3981744
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11710.p1
6.1
M
Autism
NA
Full-scale IQ, 74; non-verbal IQ, 79; verbal IQ, 73
58493019
62511015
4017997
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11753.p1
17.3
M
Autism
NA
Full-scale IQ, 111; non-verbal IQ, 100; verbal IQ, 128
58458095
62511015
4052921
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
58405466
62651758
4246293
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11825.p1
6.6
M
Autism
NA
Full-scale IQ, 131; non-verbal IQ, 135; verbal IQ, 115
58426161
62651758
4225598
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
58458095
62511015
4052921
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11892.p1
6.9
M
Autism
NA
Full-scale IQ, 55; non-verbal IQ, 51; verbal IQ, 70
58405466
62651758
4246293
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11919.p1
4.1
M
ASD
NA
Full-scale IQ, 84; non-verbal IQ, 77; verbal IQ, 104
58458095
62511015
4052921
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11920.p1
10.8
M
Aspergers
NA
Full-scale IQ, 96; non-verbal IQ, 91; verbal IQ, 106
58455891
62579125
4123235
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11922.p1
11.2
M
Autism
NA
Full-scale IQ, 85; non-verbal IQ, 84; verbal IQ, 90
58455891
62651758
4195868
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11931.p1
6.6
M
Autism
NA
Full-scale IQ, 58; non-verbal IQ, 69; verbal IQ, 51
58405466
62651758
4246293
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11933.p1
8.7
M
Autism
NA
Full-scale IQ, 105; non-verbal IQ, 100; verbal IQ, 108
58405466
62651758
4246293
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
58405466
62651758
4246293
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11942.p1
10.3
M
Autism
NA
Full-scale IQ, 50; non-verbal IQ, 44; verbal IQ, 62
58405466
62651758
4246293
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11959.p1
7.9
M
Autism
NA
Full-scale IQ, 64; non-verbal IQ, 79; verbal IQ, 49
58394680
62651758
4257079
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11977.p1
10.2
M
ASD
NA
Full-scale IQ, 74; non-verbal IQ, 74; verbal IQ, 80
58455891
62511015
4055125
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11984.p1
5
M
Autism
NA
Full-scale IQ, 94; non-verbal IQ, 100; verbal IQ, 88
58405466
62651758
4246293
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11986.p1
10.5
M
Autism
NA
Full-scale IQ, 109; non-verbal IQ, 101; verbal IQ, 123
58455891
62651758
4195868
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11990.p1
11.4
M
Autism
NA
Full-scale IQ, 79; non-verbal IQ, 81; verbal IQ, 78
58405466
62651758
4246293
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12009.p1
6.8
M
Autism
NA
Full-scale IQ, 78; non-verbal IQ, 87; verbal IQ, 69
58458095
62651758
4193664
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12019.p1
9.1
M
ASD
NA
Full-scale IQ, 67; non-verbal IQ, 74; verbal IQ, 54
58470201
62511015
4040815
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12020.p1
17.3
M
Autism
NA
Full-scale IQ, 116; non-verbal IQ, 115; verbal IQ, 114
58405466
62651758
4246293
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
58470201
62579125
4108925
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12041.p1
6.7
M
Autism
NA
Full-scale IQ, 108; non-verbal IQ, 119; verbal IQ, 87
58458095
62511015
4052921
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12048.p1
7.2
M
Autism
NA
Full-scale IQ, 67; non-verbal IQ, 87; verbal IQ, 40
58455891
62651758
4195868
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12050.p1
5.5
M
Autism
NA
Full-scale IQ, 58; non-verbal IQ, 60; verbal IQ, 64
58458095
62651758
4193664
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12052.p1
7.4
M
Autism
NA
Full-scale IQ, 85; non-verbal IQ, 100; verbal IQ, 64
58455891
62651758
4195868
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12053.p1
4.1
M
Autism
NA
Full-scale IQ, 78; non-verbal IQ, 90; verbal IQ, 71
58458095
62651758
4193664
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12060.p1
8.5
M
Autism
NA
Full-scale IQ, 128; non-verbal IQ, 129; verbal IQ, 115
58405466
62651758
4246293
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12066.p1
7.5
M
Autism
NA
Full-scale IQ, 121; non-verbal IQ, 131; verbal IQ, 95
58405466
62651758
4246293
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12077.p1
10.9
M
Autism
NA
Full-scale IQ, 63; non-verbal IQ, 70; verbal IQ, 52
58405466
62615736
4210271
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12078.p1
9.2
M
ASD
NA
Full-scale IQ, 106; non-verbal IQ, 102; verbal IQ, 113
58470201
62651758
4181558
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12083.p1
7.9
M
Autism
NA
Full-scale IQ, 114; non-verbal IQ, 111; verbal IQ, 117
58455891
62615736
4159846
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12087.p1
5.3
M
Autism
NA
Full-scale IQ, 108; non-verbal IQ, 106; verbal IQ, 108
58458095
62651758
4193664
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12102.p1
5.1
M
Autism
NA
Full-scale IQ, 45; non-verbal IQ, 52; verbal IQ, 38
58458095
62651758
4193664
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12113.p1
4.1
M
Autism
NA
Full-scale IQ, 66; non-verbal IQ, 73; verbal IQ, 69
58463112
62511015
4047904
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12119.p1
5.2
M
Autism
NA
Full-scale IQ, 48; non-verbal IQ, 55; verbal IQ, 41
58405466
62651758
4246293
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12139.p1
4.3
M
ASD
NA
Full-scale IQ, 98; non-verbal IQ, 106; verbal IQ, 86
58455891
62579125
4123235
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12180.p1
16.3
M
Autism
NA
Full-scale IQ, 88; non-verbal IQ, 92; verbal IQ, 86
58426161
62651758
4225598
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12194.p1
5.7
M
Autism
NA
Full-scale IQ, 88; non-verbal IQ, 97; verbal IQ, 78
58405466
62651758
4246293
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12206.p1
17.1
M
Aspergers
NA
Full-scale IQ, 130; non-verbal IQ, 141; verbal IQ, 113
58458095
62651758
4193664
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
58405466
62651758
4246293
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12279.p1
4.1
M
Autism
NA
Full-scale IQ, 61; non-verbal IQ, 64; verbal IQ, 58
58455891
62651758
4195868
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
58405466
62651758
4246293
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
58405466
62651758
4246293
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12320.p1
8.5
M
Autism
NA
Full-scale IQ, 104; non-verbal IQ, 107; verbal IQ, 100
58455891
62651758
4195868
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12323.p1
10.1
M
Autism
NA
Full-scale IQ, 90; non-verbal IQ, 90; verbal IQ, 92
58458095
62651758
4193664
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12329.p1
8.1
M
Autism
NA
Full-scale IQ, 75; non-verbal IQ, 74; verbal IQ, 82
58455891
62651758
4195868
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12330.p1
4.5
M
Autism
NA
Full-scale IQ, 59; non-verbal IQ, 62; verbal IQ, 62
58405466
62651758
4246293
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12355.p1
4.6
M
Autism
NA
Full-scale IQ, 59; non-verbal IQ, 63; verbal IQ, 55
58458095
62651758
4193664
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12379.p1
7.1
M
Autism
NA
Full-scale IQ, 88; non-verbal IQ, 93; verbal IQ, 86
58405466
62651758
4246293
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12392.p1
7
M
ASD
NA
Full-scale IQ, 103; non-verbal IQ, 102; verbal IQ, 105
58458095
62511015
4052921
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12424.p1
4.2
M
ASD
NA
Full-scale IQ, 69; non-verbal IQ, 77; verbal IQ, 65
58455891
62651758
4195868
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12440.p1
7.3
M
Autism
NA
Full-scale IQ, 58; non-verbal IQ, 55; verbal IQ, 75
58458095
62579125
4121031
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12532.p1
11.8
M
Autism
NA
Full-scale IQ, 121; non-verbal IQ, 110; verbal IQ, 135
58458095
62651758
4193664
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12558.p1
10.5
M
Autism
NA
Full-scale IQ, 81; non-verbal IQ, 95; verbal IQ, 51
58405466
62651758
4246293
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12610.p1
5.4
M
ASD
NA
Full-scale IQ, 86; non-verbal IQ, 99; verbal IQ, 71
58458095
62511015
4052921
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12741.p1
7.8
M
Autism
NA
Full-scale IQ, 74; non-verbal IQ, 87; verbal IQ, 60
58458095
62651758
4193664
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12749.p1
7.3
M
Autism
NA
Full-scale IQ, 73; non-verbal IQ, 86; verbal IQ, 59
58458095
62651758
4193664
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12757.p1
5.3
M
Autism
NA
Full-scale IQ, 57; non-verbal IQ, 62; verbal IQ, 55
58405466
62651758
4246293
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12784.p1
4.4
M
Autism
NA
Full-scale IQ, 99; non-verbal IQ, 106; verbal IQ, 87
58455891
62651758
4195868
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12787.p1
7.8
M
Autism
NA
Full-scale IQ, 101; non-verbal IQ, 130; verbal IQ, 88
58405466
62579125
4173660
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12790.p1
7.9
M
Autism
NA
Full-scale IQ, 31; non-verbal IQ, 44; verbal IQ, 18
58405466
62651758
4246293
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12798.p1
4.8
M
Autism
NA
Full-scale IQ, 67; non-verbal IQ, 73; verbal IQ, 65
58463112
62651758
4188647
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12809.p1
5.6
M
ASD
NA
Full-scale IQ, 86; non-verbal IQ, 88; verbal IQ, 88
58529272
62511015
3981744
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12838.p1
4.7
M
Autism
NA
Full-scale IQ, 78; non-verbal IQ, 93; verbal IQ, 50
58455891
62579125
4123235
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12852.p1
5.1
M
Autism
NA
Full-scale IQ, 77; non-verbal IQ, 78; verbal IQ, 83
58426161
62579125
4152965
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12853.p1
9.8
M
Autism
NA
Full-scale IQ, 96; non-verbal IQ, 97; verbal IQ, 94
58458095
62579125
4121031
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12859.p1
4.3
M
Autism
NA
Full-scale IQ, 30; non-verbal IQ, 56; verbal IQ, 40
58455891
62579125
4123235
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12871.p1
16.5
M
Autism
NA
Full-scale IQ, 87; non-verbal IQ, 98; verbal IQ, 59
58405466
62615736
4210271
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12892.p1
6.3
M
ASD
NA
Full-scale IQ, 69; non-verbal IQ, 79; verbal IQ, 63
58405466
62615736
4210271
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12916.p1
7.6
M
Autism
NA
Full-scale IQ, 83; non-verbal IQ, 78; verbal IQ, 97
58458095
62579125
4121031
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12921.p1
11.4
M
Autism
NA
Full-scale IQ, 80; non-verbal IQ, 74; verbal IQ, 100
58405466
62579125
4173660
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12923.p1
4.4
M
Autism
NA
Full-scale IQ, 94; non-verbal IQ, 100; verbal IQ, 87
58405466
62651758
4246293
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12930.p1
12.2
M
Autism
NA
Full-scale IQ, 68; non-verbal IQ, 76; verbal IQ, 57
58493019
62651758
4158740
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
58405466
62579125
4173660
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
58405466
62651758
4246293
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12951.p1
15.3
M
Autism
NA
Full-scale IQ, 57; non-verbal IQ, 64; verbal IQ, 44
58470201
62651758
4181558
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
58458095
62651758
4193664
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12956.p1
5.1
M
Autism
NA
Full-scale IQ, 84; non-verbal IQ, 91; verbal IQ, 80
58458095
62651758
4193664
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12962.p1
11.3
M
Autism
NA
Full-scale IQ, 79; non-verbal IQ, 82; verbal IQ, 78
58470201
62651758
4181558
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12964.p1
6.9
M
Autism
NA
Full-scale IQ, 38; non-verbal IQ, 48; verbal IQ, 28
58470201
62651758
4181558
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
58394680
62651758
4257079
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12972.p1
10.8
M
Autism
NA
Full-scale IQ, 72; non-verbal IQ, 79; verbal IQ, 63
58394680
62651758
4257079
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12975.p1
10.4
M
ASD
NA
Full-scale IQ, 89; non-verbal IQ, 97; verbal IQ, 78
58455891
62651758
4195868
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12976.p1
4.9
M
Autism
NA
Full-scale IQ, 81; non-verbal IQ, 85; verbal IQ, 82
58458095
62651758
4193664
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12979.p1
4.7
M
Autism
NA
Full-scale IQ, 64; non-verbal IQ, 68; verbal IQ, 65
58470201
62651758
4181558
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12984.p1
10.1
M
Autism
NA
Full-scale IQ, 100; non-verbal IQ, 102; verbal IQ, 96
58405466
62651758
4246293
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12989.p1
7.1
M
Autism
NA
Full-scale IQ, 82; non-verbal IQ, 83; verbal IQ, 88
58455891
62651758
4195868
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
58405466
62651758
4246293
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-13005.p1
4.4
M
Autism
NA
Full-scale IQ, 117; non-verbal IQ, 116; verbal IQ, 114
58455891
62651758
4195868
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-13007.p1
13.6
M
Autism
NA
Full-scale IQ, 91; non-verbal IQ, 107; verbal IQ, 67
58455891
62651758
4195868
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-13010.p1
7.9
M
Autism
NA
Full-scale IQ, 115; non-verbal IQ, 122; verbal IQ, 99
58405466
62651758
4246293
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-13016.p1
5.5
M
Aspergers
NA
Full-scale IQ, 98; non-verbal IQ, 102; verbal IQ, 93
58455891
62651758
4195868
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-13038.p1
8.8
M
Autism
NA
Full-scale IQ, 96; non-verbal IQ, 94; verbal IQ, 100
58458095
62579125
4121031
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-13039.p1
6.3
M
Autism
NA
Full-scale IQ, 121; non-verbal IQ, 135; verbal IQ, 93
58458095
62579125
4121031
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-13042.p1
6.4
M
Autism
NA
Full-scale IQ, 79; non-verbal IQ, 79; verbal IQ, 85
58458095
62651758
4193664
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-13043.p1
6.2
M
Autism
NA
Full-scale IQ, 125; non-verbal IQ, 127; verbal IQ, 111
58458095
62615736
4157642
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-13050.p1
4.4
M
Autism
NA
Full-scale IQ, 98; non-verbal IQ, 93; verbal IQ, 108
58405466
62579125
4173660
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-13051.p1
6.9
M
Autism
NA
Full-scale IQ, 105; non-verbal IQ, 105; verbal IQ, 104
58426161
62579125
4152965
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-13053.p1
4.6
M
Autism
NA
Full-scale IQ, 43; non-verbal IQ, 49; verbal IQ, 25
58493019
62579125
4086107
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-13057.p1
4.2
M
Autism
NA
Full-scale IQ, 108; non-verbal IQ, 118; verbal IQ, 87
58455891
62651758
4195868
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-13076.p1
6.7
M
ASD
NA
Full-scale IQ, 89; non-verbal IQ, 85; verbal IQ, 102
58458095
62511015
4052921
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-13077.p1
11.4
M
Autism
NA
Full-scale IQ, 107; non-verbal IQ, 109; verbal IQ, 105
58458095
62651758
4193664
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-13082.p1
6
M
Autism
NA
Full-scale IQ, 61; non-verbal IQ, 67; verbal IQ, 61
58455891
62579125
4123235
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-13088.p1
6
M
Autism
NA
Full-scale IQ, 79; non-verbal IQ, 91; verbal IQ, 67
58493019
62511015
4017997
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-13093.p1
13.9
M
Autism
NA
Full-scale IQ, 167; non-verbal IQ, 161; verbal IQ, 153
58463112
62511015
4047904
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-13095.p1
9.8
M
Autism
NA
Full-scale IQ, 29; non-verbal IQ, 32; verbal IQ, 25
58426161
62579125
4152965
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-13096.p1
5.6
M
Autism
NA
Full-scale IQ, 107; non-verbal IQ, 111; verbal IQ, 99
58493019
62511015
4017997
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-13097.p1
9.9
M
Autism
NA
Full-scale IQ, 34; non-verbal IQ, 37; verbal IQ, 27
58458095
62511015
4052921
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-13169.p1
13.4
M
Autism
NA
Full-scale IQ, 45; non-verbal IQ, 62; verbal IQ, 37
58426161
62579125
4152965
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-13174.p1
10
M
Aspergers
NA
Full-scale IQ, 106; non-verbal IQ, 93; verbal IQ, 126
58455891
62651758
4195868
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-13183.p1
5.8
M
Autism
NA
Full-scale IQ, 60; non-verbal IQ, 69; verbal IQ, 56
58394680
62651758
4257079
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
58405466
62651758
4246293
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-13193.p1
6.3
M
Autism
NA
Full-scale IQ, 81; non-verbal IQ, 86; verbal IQ, 81
58426161
62524233
4098073
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
58455891
62615736
4159846
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-13196.p1
8.8
M
Autism
NA
Full-scale IQ, 92; non-verbal IQ, 91; verbal IQ, 95
58463112
62579125
4116014
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-13216.p1
4.8
M
Autism
NA
Full-scale IQ, 105; non-verbal IQ, 110; verbal IQ, 93
58405466
62579125
4173660
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-13226.p1
8.7
M
ASD
NA
Full-scale IQ, 85; non-verbal IQ, 87; verbal IQ, 85
58455891
62651758
4195868
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-13233.p1
13.6
M
Autism
NA
Full-scale IQ, 90; non-verbal IQ, 95; verbal IQ, 84
58455891
62579125
4123235
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-13294.p1
5.8
M
Autism
NA
Full-scale IQ, 87; non-verbal IQ, 92; verbal IQ, 83
58529272
62651758
4122487
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-13296.p1
5.9
M
Autism
NA
Full-scale IQ, 30; non-verbal IQ, 44; verbal IQ, 15
58479863
62511015
4031153
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-13327.p1
12.6
M
Aspergers
NA
Full-scale IQ, 103; non-verbal IQ, 95; verbal IQ, 118
58458095
62651758
4193664
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
sanders_11_ASD_discovery_controls-11002.s1
10.4
M
Control (matched sibling)
NA
NA
58537604
62563261
4025658
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11009.s1
7.6
M
Control (matched sibling)
NA
NA
58537604
62651758
4114155
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11010.s1
7.7
M
Control (matched sibling)
NA
NA
58405466
62651758
4246293
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11041.s1
15.7
M
Control (matched sibling)
NA
NA
58506044
62679626
4173583
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11043.s1
11.5
M
Control (matched sibling)
NA
NA
58405466
62665165
4259700
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11063.s1
7.3
M
Control (matched sibling)
NA
NA
58537604
62563261
4025658
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11077.s1
14.8
M
Control (matched sibling)
NA
NA
58405466
62665165
4259700
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11093.s1
9.8
M
Control (matched sibling)
NA
NA
58537604
62665165
4127562
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11107.s1
3.7
M
Control (matched sibling)
NA
NA
58537604
62615736
4078133
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11124.s1
13.3
M
Control (matched sibling)
NA
NA
58537604
62651758
4114155
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11150.s1
6.5
M
Control (matched sibling)
NA
NA
58405466
62665165
4259700
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11197.s1
7.8
M
Control (matched sibling)
NA
NA
58537604
62563261
4025658
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11218.s1
8.5
M
Control (matched sibling)
NA
NA
58537604
62563261
4025658
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11229.s1
6.1
M
Control (matched sibling)
NA
NA
58537604
62665165
4127562
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11256.s1
14
M
Control (matched sibling)
NA
NA
58405466
62651758
4246293
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11274.s1
9.1
M
Control (matched sibling)
NA
NA
58405466
62615736
4210271
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11333.s1
6.9
M
Control (matched sibling)
NA
NA
58383317
62651758
4268442
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11381.s1
7.4
M
Control (matched sibling)
NA
NA
58537604
62651758
4114155
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11439.s1
4.8
M
Control (matched sibling)
NA
NA
58405466
62651758
4246293
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11456.s1
11.3
M
Control (matched sibling)
NA
NA
58529272
62526467
3997196
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11484.s1
14.4
M
Control (matched sibling)
NA
NA
58537604
62651758
4114155
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11494.s1
19.3
M
Control (matched sibling)
NA
NA
58405466
62615736
4210271
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11495.s1
7.5
M
Control (matched sibling)
NA
NA
58405466
62563261
4157796
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11546.s1
11.2
M
Control (matched sibling)
NA
NA
58537604
62615736
4078133
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11561.s1
8.9
M
Control (matched sibling)
NA
NA
58405466
62651758
4246293
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11600.s1
19.2
M
Control (matched sibling)
NA
NA
58394680
62651758
4257079
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11634.s1
9.9
M
Control (matched sibling)
NA
NA
58432662
62579125
4146464
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11638.s1
14.4
M
Control (matched sibling)
NA
NA
58458095
62511015
4052921
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11644.s1
14.2
F
Control (matched sibling)
NA
NA
58405466
62651758
4246293
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11665.s1
12.9
M
Control (matched sibling)
NA
NA
58405466
62671970
4266505
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11666.s1
9.1
M
Control (matched sibling)
NA
NA
58405466
62651758
4246293
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11667.s1
8.3
M
Control (matched sibling)
NA
NA
58405466
62651758
4246293
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11673.s1
7.9
M
Control (matched sibling)
NA
NA
58405466
62579125
4173660
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11679.s1
4
M
Control (matched sibling)
NA
NA
58405466
62579125
4173660
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11691.s1
16.3
M
Control (matched sibling)
NA
NA
58405466
62651758
4246293
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11714.s1
4.3
M
Control (matched sibling)
NA
NA
58519376
62544594
4025219
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11722.s1
9.8
M
Control (matched sibling)
NA
NA
58458095
62511015
4052921
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11888.s1
9.6
M
Control (matched sibling)
NA
NA
58458095
62511015
4052921
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11895.s1
4
M
Control (matched sibling)
NA
NA
58463112
62511015
4047904
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11920.s1
18.3
M
Control (matched sibling)
NA
NA
58405466
62651758
4246293
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11922.s1
13.4
M
Control (matched sibling)
NA
NA
58455891
62615736
4159846
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11940.s1
6.5
M
Control (matched sibling)
NA
NA
58458095
62651758
4193664
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11942.s1
14.6
M
Control (matched sibling)
NA
NA
58405466
62651758
4246293
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11947.s1
14.5
M
Control (matched sibling)
NA
NA
58537604
62579125
4041522
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11948.s1
11.8
M
Control (matched sibling)
NA
NA
58405466
62651758
4246293
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11990.s1
13.4
M
Control (matched sibling)
NA
NA
58426161
62651758
4225598
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-12007.s1
10.9
M
Control (matched sibling)
NA
NA
58455891
62579125
4123235
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-12020.s1
13.8
M
Control (matched sibling)
NA
NA
58405466
62651758
4246293
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-12044.s1
8.8
M
Control (matched sibling)
NA
NA
58531179
62651758
4120580
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-12051.s1
7.5
M
Control (matched sibling)
NA
NA
58458095
62511015
4052921
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-12061.s1
8.4
M
Control (matched sibling)
NA
NA
58458095
62651758
4193664
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-12068.s1
14.1
M
Control (matched sibling)
NA
NA
58537604
62563261
4025658
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-12071.s1
19.6
M
Control (matched sibling)
NA
NA
58405466
62615736
4210271
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-12198.s1
11.3
M
Control (matched sibling)
NA
NA
58458095
62651758
4193664
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-12206.s1
13.1
M
Control (matched sibling)
NA
NA
58458095
62579125
4121031
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-12220.s1
16.1
M
Control (matched sibling)
NA
NA
58455891
62511015
4055125
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-12334.s1
4.2
M
Control (matched sibling)
NA
NA
58529272
62511015
3981744
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-12361.s1
7.3
M
Control (matched sibling)
NA
NA
58458095
62579125
4121031
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-12456.s1
12
M
Control (matched sibling)
NA
NA
58506044
62526467
4020424
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-12595.s1
10.4
M
Control (matched sibling)
NA
NA
58463112
62511015
4047904
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-12616.s1
7.6
M
Control (matched sibling)
NA
NA
58458095
62651758
4193664
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-12741.s1
5.9
M
Control (matched sibling)
NA
NA
58458095
62651758
4193664
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-12780.s1
5.9
M
Control (matched sibling)
NA
NA
58458095
62651758
4193664
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-12784.s1
8.4
M
Control (matched sibling)
NA
NA
58426161
62651758
4225598
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-12836.s1
4.2
M
Control (matched sibling)
NA
NA
58455891
62579125
4123235
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-12852.s1
6.3
M
Control (matched sibling)
NA
NA
58405466
62579125
4173660
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-12879.s1
6.3
M
Control (matched sibling)
NA
NA
58458095
62651758
4193664
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-12902.s1
14.3
M
Control (matched sibling)
NA
NA
58493019
62651758
4158740
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-12908.s1
7.6
M
Control (matched sibling)
NA
NA
58493019
62511015
4017997
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-12916.s1
12.3
M
Control (matched sibling)
NA
NA
58493019
62511015
4017997
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-12923.s1
5.8
M
Control (matched sibling)
NA
NA
58405466
62651758
4246293
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-12930.s1
14.8
M
Control (matched sibling)
NA
NA
58493019
62651758
4158740
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-12938.s1
17.3
M
Control (matched sibling)
NA
NA
58458095
62511015
4052921
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-12939.s1
5.7
M
Control (matched sibling)
NA
NA
58426161
62651758
4225598
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-12955.s1
9.5
M
Control (matched sibling)
NA
NA
58458095
62651758
4193664
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-12964.s1
8.5
M
Control (matched sibling)
NA
NA
58455891
62651758
4195868
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-12969.s1
5.8
M
Control (matched sibling)
NA
NA
58405466
62579125
4173660
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-12972.s1
7.2
F
Control (matched sibling)
NA
NA
58338200
62651758
4313559
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-12975.s1
7.3
F
Control (matched sibling)
NA
NA
58338200
62651758
4313559
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-12976.s1
8.5
M
Control (matched sibling)
NA
NA
58405466
62651758
4246293
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-12997.s1
5.7
F
Control (matched sibling)
NA
NA
58338200
62615736
4277537
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-13001.s1
7.4
M
Control (matched sibling)
NA
NA
58455891
62579125
4123235
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-13010.s1
5.8
M
Control (matched sibling)
NA
NA
58405466
62651758
4246293
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-13023.s1
8.8
M
Control (matched sibling)
NA
NA
58455891
62651758
4195868
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-13038.s1
5.8
M
Control (matched sibling)
NA
NA
58458095
62651758
4193664
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-13039.s1
4.5
M
Control (matched sibling)
NA
NA
58458095
62651758
4193664
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-13041.s1
9
M
Control (matched sibling)
NA
NA
58426161
62579125
4152965
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-13050.s1
6.9
M
Control (matched sibling)
NA
NA
58405466
62615736
4210271
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-13053.s1
6.6
M
Control (matched sibling)
NA
NA
58470201
62579125
4108925
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-13073.s1
6.6
M
Control (matched sibling)
NA
NA
58458095
62651758
4193664
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-13082.s1
4
M
Control (matched sibling)
NA
NA
58493019
62579125
4086107
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-13153.s1
11.8
M
Control (matched sibling)
NA
NA
58456613
62579125
4122513
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-13169.s1
16
M
Control (matched sibling)
NA
NA
58455891
62579125
4123235
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-13187.s1
6
M
Control (matched sibling)
NA
NA
58405466
62526467
4121002
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-13195.s1
10.1
M
Control (matched sibling)
NA
NA
58405466
62579125
4173660
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-13196.s1
12.1
M
Control (matched sibling)
NA
NA
58463112
62579125
4116014
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-13216.s1
6
M
Control (matched sibling)
NA
NA
58405466
62651758
4246293
GRCh38
Duplication
No
Cases
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
al-murrani_12_DD_discovery_cases-case1
Possible de novo (not in mother)
Simplex
Segregated
sanders_11_ASD_discovery_cases-11009.p1
Unknown
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11017.p1
Unknown
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11033.p1
Unknown
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11037.p1
Unknown
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11038.p1
Maternal
Simplex (quad-proband matched)
Segregated
sanders_11_ASD_discovery_cases-11047.p1
Unknown
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11051.p1
Unknown
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11057.p1
Unknown
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11064.p1
Unknown
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11069.p1
Unknown
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11073.p1
Unknown
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11077.p1
Unknown
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11087.p1
Unknown
Simplex (trio)
NA
sanders_11_ASD_discovery_cases-11132.p1
Unknown
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11148.p1
Unknown
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11150.p1
Unknown
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11152.p1
Unknown
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11154.p1
Unknown
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11158.p1
Unknown
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11172.p1
Unknown
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11181.p1
Unknown
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11195.p1
Unknown
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11200.p1
Unknown
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11201.p1
Unknown
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11218.p1
Unknown
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11227.p1
Unknown
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11242.p1
Unknown
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11249.p1
Unknown
Simplex (trio)
NA
sanders_11_ASD_discovery_cases-11252.p1
Unknown
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11265.p1
Unknown
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11276.p1
Unknown
Simplex (quad-proband unmatched)
Unknown
sanders_11_ASD_discovery_cases-11289.p1
Unknown
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11333.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11343.p1
Unknown
Simplex (trio)
NA
sanders_11_ASD_discovery_cases-11346.p1
Unknown
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11350.p1
Unknown
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11355.p1
Unknown
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11359.p1
Unknown
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11424.p1
Unknown
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11429.p1
Unknown
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11439.p1
Unknown
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11445.p1
Unknown
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11447.p1
Unknown
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11452.p1
Unknown
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11453.p1
Unknown
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11463.p1
Unknown
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11465.p1
Unknown
Simplex (trio)
NA
sanders_11_ASD_discovery_cases-11466.p1
Unknown
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11494.p1
Unknown
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11495.p1
Unknown
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11498.p1
Unknown
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11509.p1
Unknown
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11544.p1
Unknown
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11551.p1
Unknown
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11584.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11592.p1
Unknown
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11597.p1
Unknown
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11609.p1
Unknown
Simplex (trio)
NA
sanders_11_ASD_discovery_cases-11612.p1
Unknown
Simplex (trio)
NA
sanders_11_ASD_discovery_cases-11627.p1
Unknown
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11642.p1
Unknown
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11645.p1
Unknown
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11657.p1
Unknown
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11665.p1
Unknown
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11666.p1
Unknown
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11667.p1
Unknown
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11673.p1
Unknown
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11677.p1
Unknown
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11679.p1
Unknown
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11680.p1
Maternal
Simplex (trio)
NA
sanders_11_ASD_discovery_cases-11685.p1
Unknown
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11691.p1
Unknown
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11694.p1
Unknown
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11710.p1
Unknown
Simplex (trio)
NA
sanders_11_ASD_discovery_cases-11753.p1
Unknown
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11781.p1
Unknown
Simplex (trio)
NA
sanders_11_ASD_discovery_cases-11825.p1
Unknown
Simplex (trio)
NA
sanders_11_ASD_discovery_cases-11827.p1
Unknown
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11892.p1
Unknown
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11919.p1
Unknown
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11920.p1
Unknown
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11922.p1
Unknown
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11931.p1
Unknown
Simplex (trio)
NA
sanders_11_ASD_discovery_cases-11933.p1
Unknown
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11935.p1
Unknown
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11942.p1
Unknown
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11959.p1
Unknown
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11977.p1
Unknown
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11984.p1
Unknown
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11986.p1
Unknown
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11990.p1
Unknown
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12009.p1
Paternal
Simplex (trio)
NA
sanders_11_ASD_discovery_cases-12019.p1
Unknown
Simplex (quad-proband unmatched)
Unknown
sanders_11_ASD_discovery_cases-12020.p1
Unknown
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12032.p1
Unknown
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12041.p1
Unknown
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12048.p1
Unknown
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12050.p1
Unknown
Simplex (trio)
NA
sanders_11_ASD_discovery_cases-12052.p1
Unknown
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12053.p1
Unknown
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12060.p1
Unknown
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12066.p1
Unknown
Simplex (quad-proband unmatched)
Unknown
sanders_11_ASD_discovery_cases-12077.p1
Unknown
Simplex (trio)
NA
sanders_11_ASD_discovery_cases-12078.p1
Unknown
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12083.p1
Unknown
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12087.p1
Unknown
Simplex (trio)
NA
sanders_11_ASD_discovery_cases-12102.p1
Unknown
Simplex (trio)
NA
sanders_11_ASD_discovery_cases-12113.p1
Unknown
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12119.p1
Maternal
Simplex (trio)
NA
sanders_11_ASD_discovery_cases-12139.p1
Unknown
Simplex (trio)
NA
sanders_11_ASD_discovery_cases-12180.p1
Unknown
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12194.p1
Unknown
Simplex (trio)
NA
sanders_11_ASD_discovery_cases-12206.p1
Unknown
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12215.p1
Unknown
Simplex (trio)
NA
sanders_11_ASD_discovery_cases-12279.p1
Unknown
Simplex (quad-proband unmatched)
Unknown
sanders_11_ASD_discovery_cases-12312.p1
Unknown
Simplex (trio)
NA
sanders_11_ASD_discovery_cases-12315.p1
Unknown
Simplex (trio)
NA
sanders_11_ASD_discovery_cases-12320.p1
Unknown
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12323.p1
Unknown
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12329.p1
Unknown
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12330.p1
Unknown
Simplex (trio)
NA
sanders_11_ASD_discovery_cases-12355.p1
Unknown
Simplex (trio)
NA
sanders_11_ASD_discovery_cases-12379.p1
Unknown
Simplex (trio)
NA
sanders_11_ASD_discovery_cases-12392.p1
Unknown
Simplex (trio)
NA
sanders_11_ASD_discovery_cases-12424.p1
Unknown
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12440.p1
Unknown
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12532.p1
Unknown
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12558.p1
Unknown
Simplex (trio)
NA
sanders_11_ASD_discovery_cases-12610.p1
Unknown
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12741.p1
Unknown
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12749.p1
Unknown
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12757.p1
Unknown
Simplex (trio)
NA
sanders_11_ASD_discovery_cases-12784.p1
Unknown
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12787.p1
Unknown
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12790.p1
Unknown
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12798.p1
Unknown
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12809.p1
Unknown
Simplex (trio)
NA
sanders_11_ASD_discovery_cases-12838.p1
Unknown
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12852.p1
Unknown
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12853.p1
Unknown
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12859.p1
Unknown
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12871.p1
Unknown
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12892.p1
Unknown
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12916.p1
Unknown
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12921.p1
Unknown
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12923.p1
Unknown
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12930.p1
Unknown
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12939.p1
Unknown
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12944.p1
Unknown
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12951.p1
Unknown
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12955.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12956.p1
Unknown
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12962.p1
Unknown
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12964.p1
Unknown
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12969.p1
Unknown
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12972.p1
Unknown
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12975.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12976.p1
Unknown
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12979.p1
Unknown
Simplex (trio)
NA
sanders_11_ASD_discovery_cases-12984.p1
Unknown
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12989.p1
Unknown
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-13005.p1
Unknown
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-13007.p1
Unknown
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-13010.p1
Unknown
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-13016.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-13038.p1
Unknown
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-13039.p1
Unknown
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-13042.p1
Unknown
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-13043.p1
Unknown
Simplex (quad-proband unmatched)
Unknown
sanders_11_ASD_discovery_cases-13050.p1
Unknown
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-13051.p1
Unknown
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-13053.p1
Unknown
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-13057.p1
Unknown
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-13076.p1
Unknown
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-13077.p1
Unknown
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-13082.p1
Unknown
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-13088.p1
Unknown
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-13093.p1
Unknown
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-13095.p1
Unknown
Simplex (quad-proband unmatched)
Unknown
sanders_11_ASD_discovery_cases-13096.p1
Unknown
Simplex (quad-proband unmatched)
Unknown
sanders_11_ASD_discovery_cases-13097.p1
Unknown
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-13169.p1
Unknown
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-13174.p1
Unknown
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-13183.p1
Unknown
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-13187.p1
Unknown
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-13193.p1
Unknown
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-13195.p1
Unknown
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-13196.p1
Unknown
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-13216.p1
Unknown
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-13226.p1
Unknown
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-13233.p1
Unknown
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-13294.p1
Unknown
Simplex (trio)
NA
sanders_11_ASD_discovery_cases-13296.p1
Unknown
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-13327.p1
Unknown
Simplex (quad-proband matched)
Not segregated
Controls
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
sanders_11_ASD_discovery_controls-11002.s1
Unknown
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11009.s1
Unknown
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11010.s1
Unknown
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11041.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11043.s1
Unknown
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11063.s1
Unknown
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11077.s1
Unknown
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11093.s1
Unknown
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11107.s1
Unknown
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11124.s1
Unknown
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11150.s1
Unknown
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11197.s1
Unknown
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11218.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11229.s1
Unknown
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11256.s1
Unknown
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11274.s1
Unknown
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11333.s1
Unknown
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11381.s1
Unknown
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11439.s1
Unknown
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11456.s1
Unknown
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11484.s1
Unknown
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11494.s1
Unknown
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11495.s1
Unknown
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11546.s1
Unknown
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11561.s1
Unknown
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11600.s1
Unknown
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11634.s1
Unknown
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11638.s1
Unknown
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11644.s1
Both parents
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11665.s1
Unknown
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11666.s1
Unknown
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11667.s1
Unknown
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11673.s1
Unknown
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11679.s1
Unknown
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11691.s1
Unknown
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11714.s1
Unknown
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11722.s1
Unknown
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11888.s1
Unknown
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11895.s1
Unknown
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11920.s1
Unknown
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11922.s1
Unknown
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11940.s1
Unknown
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11942.s1
Unknown
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11947.s1
Unknown
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11948.s1
Unknown
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11990.s1
Unknown
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12007.s1
Unknown
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12020.s1
Unknown
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12044.s1
Unknown
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12051.s1
Unknown
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12061.s1
Unknown
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12068.s1
Unknown
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12071.s1
Unknown
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12198.s1
Unknown
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12206.s1
Unknown
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12220.s1
Unknown
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12334.s1
Unknown
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12361.s1
Unknown
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12456.s1
Unknown
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12595.s1
Unknown
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12616.s1
Unknown
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12741.s1
Unknown
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12780.s1
Unknown
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12784.s1
Unknown
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12836.s1
Unknown
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12852.s1
Unknown
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12879.s1
Unknown
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12902.s1
Unknown
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12908.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12916.s1
Unknown
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12923.s1
Unknown
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12930.s1
Unknown
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12938.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12939.s1
Unknown
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12955.s1
Unknown
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12964.s1
Unknown
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12969.s1
Unknown
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12972.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12975.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12976.s1
Unknown
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12997.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-13001.s1
Unknown
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-13010.s1
Unknown
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-13023.s1
Unknown
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-13038.s1
Unknown
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-13039.s1
Unknown
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-13041.s1
Unknown
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-13050.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-13053.s1
Unknown
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-13073.s1
Unknown
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-13082.s1
Unknown
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-13153.s1
Unknown
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-13169.s1
Unknown
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-13187.s1
Unknown
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-13195.s1
Unknown
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-13196.s1
Unknown
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-13216.s1
Unknown
Simplex (quad)
NA
No Animal Model Data Available


