15q15.3CNV Type: Deletion-Duplication
Largest CNV size: 167549 bp
Statistics Box:
Number of Reports: 10
Number of Reports: 10
Summary Information
Summary statement in development
Additional Locus Information
References
Major Reports
Title
Author, Year
Report Class
CNV Type
Functional impact of global rare copy number variation in autism spectrum disorders.
Deletion
Detection of clinically relevant copy-number variants by exome sequencing in a large cohort of genetic disorders.
Deletion
Minor Reports
Title
Author, Year
Report Class
CNV Type
Multiple recurrent de novo CNVs, including duplications of the 7q11.23 Williams syndrome region, are strongly associated with autism.
Deletion-Duplication
A discovery resource of rare copy number variations in individuals with autism spectrum disorder.
Deletion
Transmission disequilibrium of small CNVs in simplex autism.
Duplication
Performance of case-control rare copy number variation annotation in classification of autism.
Deletion
RYR2, PTDSS1 and AREG genes are implicated in a Lebanese population-based study of copy number variation in autism.
Duplication
Recurrent 15q11.2 BP1-BP2 microdeletions and microduplications in the etiology of neurodevelopmental disorders.
Duplication
Copy Number Variations independently induce Autism Spectrum Disorder.
Deletion
Paternally inherited cis-regulatory structural variants are associated with autism.
Deletion
Cases
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
brandler_18_ASD_replication_cases
Affected individuals from MSSNG cohort (1395 cases from 1187 families) and the Simons Simplex 2 (SSC2) cohort (584 cases from simplex quad families)
1979
Cases diagnosed with ASD
N/A
N/A
6670
2
0
2
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
81469
6
0
6
krumm_13_ASD_discovery_cases
Probands from quad families ascertained as part of the Simons Simplex Collection (SSC); CNVs detected using data from four previously published exome sequencing studies (O'Roak et al., 2011; Iossifov et al., 2012; O'Roak et al., 2012; Sanders et al., 2012)
411
Diagnosis of ASD. Social Responsiveness Scale (SRS) used as a quantitative measure of social deficits
N/A
81.265% Male
16250
0
2
2
pfundt_16_nonNDD_discovery_cases
Subset of a cohort of 2,603 patients affected by genetic disorders for which exome seqeuncing was performed in a diagnostic setting
1430
Craniofacial anomalies (n=31), disorders of sexual development (n=38), immunodeficiency (n=24), metabolic disorders (n=34), hereditary cancer (n=74), renal disorders (n=56), complex phenotypes (n=183), mitochondrial disorders (n=142), muscle disorders (n=171), deafness (n=223), movement disorders (n=217), or blindness (n=237)
N/A
N/A
160230
13
0
13
picinelli_16_ASD/ADHD/DD/ID_discovery_cases
Patients with 15q11.2 CNVs assessed in the Child and Adolescent Neuropsychiatry Unit of Campus Bio-Medico University Hospital in Rome, Italy, from an original cohort of 243 subjects affected by neurodevelopmental disorders and their first-degree relatives
6
Neuropsychiatric diagnosis made according to DSM-IV criteria. Instruments used for data collection were Leiter International Performance Scale-Revised (Leiter-R), Wechsler Intelligence Scale for Children-3rd Revision (WISC III), Wechsler Adult Intelligence Scale-3rd edition (WAIS-III), Autism Diagnostic Observation Schedule (ADOS), Autism and Asperger Diagnostic Scale-Revised (RAADS-R), Autism Diagnostic Interview-Revised (ADI-R), Vineland Adaptive Behavior Scales (VABS), and the Child Behavior Checklist (CBCL/6-18)
Range, 8-19 yrs.
83.33% Male
71862
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
66880
3
0
3
prasad_12_ASD_discovery_cases
Unrelated ASD cases recruited from three Canadian sites (Hospital for Sick Children, McMaster University, and Memorial University of Newfoundland); the majority of cases had been previously genotyped with results published in Marshall et al., 2008 and Pinto et al., 2010. 20 cases from initial cohort of 696 were excluded from further analysis (due to CNVs > 5 Mb).
676
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS
NA
82.84% Male
14233
1
0
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
167549
24
7
31
soueid_16_ASD_discovery_cases
Autistic children; 37/41 from 35 fully analyzed families (33 simplex, 2 multiplex)
41
All cases fulfilled DSM-V criteria for autism
Range, 3-18 yrs.
92.68% Male
183000
0
1
1
soueid_16_DD/ID_discovery_cases
Individuals referred to clinical neurogenetics service with non-syndromic developmental delay and intellectual disabilities (DD/ID) or rare neurological syndromes
35
Cases present with non-syndromic developmental delay and intellectual disabilities (DD/ID) or rare neurological syndromes
N/A
N/A
183000
0
1
1
yingjun_17_ASD_discovery_cases
ASD probands referred to the Clinical Genetics Service for genetic testing
64
Diagnosis of ASD based on Autism Behavior Checklist (ABC) and Childhood Autism Rating Scale (CARS)
N/A
N/A
165560
2
0
2
Controls
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
brandler_18_ASD_replication_controls
Unaffected individuals from the Simons Simplex 2 (SSC2) cohort (584 controls from simplex quad families)
584
Control (unaffected siblings from simplex quad families)
N/A
N/A
500
1
0
1
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
0
0
0
0
kanduri_15_ASD_discovery_controls
Unrelated Finnish samples from the cohort of Health 2000 survey from an initial sample of 288 individuals following quality control
269
Controls screened for DSM-IV mental disorders using the Composite International Diagnostic Interview and psychotic disorders using the research version of the Structured Clinical Interview for DSM-IV
N/A
N/A
50667
1
0
1
krumm_13_ASD_discovery_controls
Unaffected siblings of ASD probands from quad families ascertained as part of the Simons Simplex Collection (SSC); CNVs detected using data from four previously published exome sequencing studies (O'Roak et al., 2011; Iossifov et al., 2012; O'Roak et al., 2012; Sanders et al., 2012)
411
Control (unaffected siblings of ASD probands). Social Responsiveness Scale (SRS) used as a quantitative measure of social deficits
N/A
46.47% Male
0
0
0
0
prasad_12_ASD_discovery_controls
PDx controls [1000 DNA samples from reportedly healthy donors (50.2% male) from BioServe (Beltsville, MD)] and 4139 in-house controls previously reported in Krawcak et al. 2006, Stewart et al. 2009, and Bierut et al. 2010. CNVs identified in controls were used to define rare ASD-specific CNVs.
5139
Control
NA
NA (PDx controls 50.2% male)
14233
0
0
0
sanders_11_ASD_discovery_controls
Matched siblings of autistic probands from the Simons Simplex Collection (SSC).
872
Controls
Mean, 10.0 yrs.
106761
14
9
23
soueid_16_ASD_discovery_controls
Control cohort of normal participants
37
Control
N/A
51.35% Male
183000
0
1
1
Cases
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
brandler_18_ASD_replication_cases
N/A
WGS
Illumina HiSeq X10
ForestSV, Lumpy, Manta, Mobster, SV2
None
engchuan_15_ASD_discovery_cases
Caucasian
Solid phase hybridization
Illumina 1M
None
krumm_13_ASD_discovery_cases
N/A
WES
Whole exome sequencing platforms used in four recent publications (O'Roak et al., 2011; Sanders et al., 2012; O'Roak et al., 2012, and Iossifov et al., 2012)
DNACopy, CGHCall
CoNIFER
None
pfundt_16_nonNDD_discovery_cases
N/A
WES
Solid5500xl, IlluminaHiSeq2000
CoNIFER
MLPA, MAQ
picinelli_16_ASD/ADHD/DD/ID_discovery_cases
Italy
aCGH
Agilent SurePrint G3 4x180K
ADM-2
Agilent Cytogenomic Software v2.7
None
pinto_10_ASD_discovery_cases
European
Solid phase hybridization
Illumina Infinium 1M SNP microarray
QuantiSNP, iPattern
qPCR, long-range PCR (LR-PCR), MLPA, FISH, aCGH (Agilent 1M), array SNP (Affymetrix 500K)
prasad_12_ASD_discovery_cases
Canada
aCGH
Agilent 1M
ADM-2, DNAcopy (R Bioconductor)
DNA Analytics v4.0.85 (Agilent), DNAcopy
None
sanders_11_ASD_discovery_cases
White non-Hispanic, 74.5%; mixed, 9.3%, Asian, 4.3%, White Hispanic, 4.0%, African-American, 3.8%; other, 4.2&
Solid phase hybridization
Illumina 1M v1, Illumina 1M v3
PennCNV, QuantiSNP, GNOSIS
soueid_16_ASD_discovery_cases
Lebanon
Array SNP
Affymetrix 2.7M, Affymetrix CytoScan
Affymetrix ChAS
None
soueid_16_DD/ID_discovery_cases
Lebanon
Array SNP
Affymetrix 2.7M, Affymetrix CytoScan
Affymetrix ChAS
None
yingjun_17_ASD_discovery_cases
Chinese
Array SNP
Affymetrix CytoScan HD
Affymetrix ChAS
N/A (Validation of some CNVs by FISH, qPCR was described, but the identity of validated CNVs was not reported)
Controls
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
brandler_18_ASD_replication_controls
N/A
WGS
Illumina HiSeq X10
ForestSV, Lumpy, Manta, Mobster, SV2
None
engchuan_15_ASD_discovery_controls
Caucasian
Solid phase hybridization
Illumina 1M
None
kanduri_15_ASD_discovery_controls
Finnish
Solid phase hybridization
Illumina Infinium HD Human610-Quad BeadChip
QuantiSNP, PennCNV
Illumina BeadStudio
None
krumm_13_ASD_discovery_controls
N/A
WES
Whole exome sequencing platforms used in four recent publications (O'Roak et al., 2011; Sanders et al., 2012; O'Roak et al., 2012, and Iossifov et al., 2012)
DNACopy, CGHCall
CoNIFER
None
prasad_12_ASD_discovery_controls
NA
aCGH
Agilent 1M
ADM-2, DNAcopy (R Bioconductor)
DNA Analytics v4.0.85 (Agilent), DNAcopy
sanders_11_ASD_discovery_controls
Solid phase hybridization
Illumina 1M v1 or Illumina 1M v3
PennCNV, QuantiSNP, GNOSIS
soueid_16_ASD_discovery_controls
Lebanon
Array SNP
Affymetrix 2.7M, Affymetrix CytoScan
Affymetrix ChAS
None
Cases
Patient ID
Author, Year
Age
Gender
Primary Diagnosis
Clinical Profile
Cognitive Profile
CNV Start
CNV End
CNV Size
Genome Build
Type Method
Validation
brandler_18_ASD_replication_cases-case3-0183-000
N/A
M
ASD
Case from MSSNG cohort
43823107
43829776
6670
GRCh38
Deletion
No
brandler_18_ASD_replication_cases-caseSSC07470
N/A
M
ASD
Case from SSC_phase2 cohort
43508723
43509222
500
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case5091_4
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
44264176
44308522
44347
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case5114_3
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
44270688
44307088
36401
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case5330_3
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
44246462
44327931
81470
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case5335_3
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
44270688
44303244
32557
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case5347_3
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
44246462
44313341
66880
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case5349_3
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
44270688
44306444
35757
GRCh38
Deletion
No
krumm_13_ASD_discovery_cases-case11479.p1
N/A
M
ASD
ASD proband from SSC quad family 11479. SRS score of 79.
Full-scale IQ (FSIQ) score of 133.
43404412
43409096
4685
GRCh38
Duplication
No (not tested)
krumm_13_ASD_discovery_cases-case13018.p1
N/A
M
ASD
ASD proband from SSC quad family 13018. SRS score of 76.
Full-scale IQ (FSIQ) score of 78.
43335695
43351945
16251
GRCh38
Duplication
No
pfundt_16_nonNDD_discovery_cases-case101
N/A
N/A
Non-NDD
Disease cohort: deafness. Description: homozygous STRC deletion
43536134
43696364
160231
GRCh38
Deletion
Yes
pfundt_16_nonNDD_discovery_cases-case103
N/A
N/A
Non-NDD
Disease cohort: deafness. Description: heterozygous STRC deletion
43596206
43647468
51263
GRCh38
Deletion
Yes
pfundt_16_nonNDD_discovery_cases-case124
N/A
N/A
Non-NDD
Disease cohort: deafness. Description: STRC deletion
43581001
43648064
67064
GRCh38
Deletion
Yes
pfundt_16_nonNDD_discovery_cases-case126
N/A
N/A
Non-NDD
Disease cohort: deafness. Description: STRC deletion
43539469
43647468
108000
GRCh38
Deletion
No
pfundt_16_nonNDD_discovery_cases-case136
N/A
N/A
Non-NDD
Disease cohort: deafness. Description: Comp. heterozygous STRC deletion
43596407
43647468
51062
GRCh38
Deletion
Yes
pfundt_16_nonNDD_discovery_cases-case20
N/A
N/A
Non-NDD
Disease cohort: deafness. Description: STRC deletion
43539469
43696364
156896
GRCh38
Deletion
Yes
pfundt_16_nonNDD_discovery_cases-case29
N/A
N/A
Non-NDD
Disease cohort: deafness. Description: homozygous STRC deletion
43539469
43696364
156896
GRCh38
Deletion
Yes
pfundt_16_nonNDD_discovery_cases-case37
N/A
N/A
Non-NDD
Disease cohort: deafness. Description: compound heterozygous STRC deletion /mutation c.1934del (p.(Gly645fs)).
43581001
43648064
67064
GRCh38
Deletion
Yes
pfundt_16_nonNDD_discovery_cases-case44
N/A
N/A
Non-NDD
Disease cohort: deafness. Description: homozygous STRC deletion
43539469
43696364
156896
GRCh38
Deletion
Yes
pfundt_16_nonNDD_discovery_cases-case71
N/A
N/A
Non-NDD
Disease cohort: deafness. Description: homozgygous STRC deletion
43539469
43696364
156896
GRCh38
Deletion
Yes
pfundt_16_nonNDD_discovery_cases-case75
N/A
N/A
Non-NDD
Disease cohort: deafness. Description: heterozygous STRC deletion
43596206
43648064
51859
GRCh38
Deletion
No
pfundt_16_nonNDD_discovery_cases-case78
N/A
N/A
Non-NDD
Disease cohort: deafness. Description: heterozygous STRC deletion
43596206
43648064
51859
GRCh38
Deletion
No
pfundt_16_nonNDD_discovery_cases-case98
N/A
N/A
Non-NDD
Disease cohort: deafness. Description: STRC deletion
43536134
43648064
111931
GRCh38
Deletion
Yes
picinelli_16_ASD/ADHD/DD/ID_discovery_cases-patient3
N/A
M
Developmental delay
Birth/neonatal history: born after artificial insemination by ICSI. Developmental milestones: displayed neurodevelopmental delay at 1 year. Motor and musculoskeletal evaluation: hypotonia. Behavioral/psychiatric evaluation: self-injurious behavior. Family history: paternal uncle diagnosed with Asperger syndrome.
Developmental delay (TIQ score of 54)
43624758
43696620
71863
GRCh38
Duplication
No
pinto_10_ASD_discovery_cases-case5114_3
NA
M
Autism
No language delay, no epilepsy, no dysmorphic features
Low average IQ
44270688
44307088
36401
GRCh38
Deletion
Yes
pinto_10_ASD_discovery_cases-case5335_3
NA
M
Autism
Mental retardation
MR (IQ Leiter = 36)
44270688
44303244
32557
GRCh38
Deletion
Yes
pinto_10_ASD_discovery_cases-case5347_3
NA
M
Autism
Language delay, no epilepsy, no dysmorphic features
Average IQ
44246462
44313341
66880
GRCh38
Deletion
Yes
prasad_12_ASD_discovery_cases-caseL384
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
42357461
42371693
14233
Unknown
Deletion
No
sanders_11_ASD_discovery_cases-11038.p1
7.6
M
Autism
NA
Full-scale IQ, 74; non-verbal IQ, 82; verbal IQ, 67
43596778
43603445
6668
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11066.p1
8.9
M
Autism
NA
Full-scale IQ, 88; non-verbal IQ, 92; verbal IQ 86
43622175
43702333
80159
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11109.p1
4.5
F
Autism
NA
Full-scale IQ, 86; non-verbal IQ, 96; verbal IQ 71
43596778
43696375
99598
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11159.p1
12.9
M
Autism
NA
Full-scale IQ, 118; non-verbal IQ, 109; verbal IQ, 130
43622175
43648608
26434
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11322.p1
4.2
M
Autism
NA
Full-scale IQ, 117; non-verbal IQ, 115; verbal IQ 116
43596778
43669006
72229
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11381.p1
5.6
M
Autism
NA
Full-scale IQ, 79; non-verbal IQ, 89; verbal IQ, 68
43581291
43648608
67318
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11439.p1
6.8
M
Autism
NA
Full-scale IQ, 98; non-verbal IQ, 94; verbal IQ, 108
43559845
43727394
167550
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11473.p1
11.5
M
Autism
NA
Full-scale IQ, 108; non-verbal IQ, 109; verbal IQ, 105
43596778
43648608
51831
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11693.p1
5.3
M
Autism
NA
Full-scale IQ, 78; non-verbal IQ, 76; verbal IQ, 88
43622175
43647444
25270
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11794.p1
8.3
M
Autism
NA
Full-scale IQ, 36; non-verbal IQ, 40; verbal IQ, 33
44306346
44313341
6996
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11893.p1
8.3
F
Autism
NA
Full-scale IQ, 42; non-verbal IQ, 49; verbal IQ, 30
43622175
43646090
23916
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11914.p1
7.1
M
Autism
NA
Full-scale IQ, 83; non-verbal IQ, 81; verbal IQ, 91
43602295
43673233
70939
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11938.p1
4.5
M
Autism
NA
Full-scale IQ, 88; non-verbal IQ, 95; verbal IQ, 82
43596778
43648608
51831
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12020.p1
17.3
M
Autism
NA
Full-scale IQ, 116; non-verbal IQ, 115; verbal IQ, 114
43622175
43648608
26434
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12038.p1
4.7
M
Autism
NA
Full-scale IQ, 76; non-verbal IQ, 83; verbal IQ, 60
43596778
43648608
51831
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12083.p1
7.9
M
Autism
NA
Full-scale IQ, 114; non-verbal IQ, 111; verbal IQ, 117
43581291
43647444
66154
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12097.p1
4.8
M
Autism
NA
Full-scale IQ, 130; non-verbal IQ, 115; verbal IQ, 145
43596778
43647444
50667
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12101.p1
5.1
M
Autism
NA
Full-scale IQ, 61; non-verbal IQ, 73; verbal IQ, 38
43622175
43646090
23916
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12119.p1
5.2
M
Autism
NA
Full-scale IQ, 48; non-verbal IQ, 55; verbal IQ, 41
43623873
43647444
23572
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12289.p1
12.2
M
ASD
NA
Full-scale IQ, 101; non-verbal IQ, 109; verbal IQ, 86
43622175
43658920
36746
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12369.p1
7.3
M
Autism
NA
Full-scale IQ, 53; non-verbal IQ, 59; verbal IQ, 50
43622175
43646090
23916
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12372.p1
15.7
F
Autism
NA
Full-scale IQ, 75; non-verbal IQ, 74; verbal IQ, 80
43596778
43646090
49313
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12407.p1
9.4
M
ASD
NA
Full-scale IQ, 68; non-verbal IQ, 86; verbal IQ, 41
43596778
43647444
50667
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12494.p1
7.9
M
Autism
NA
Full-scale IQ, 59; non-verbal IQ, 67; verbal IQ, 56
43581291
43647444
66154
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12588.p1
9.4
M
Autism
NA
Full-scale IQ, 106; non-verbal IQ, 105; verbal IQ, 108
43596778
43648608
51831
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12742.p1
4.8
M
ASD
NA
Full-scale IQ, 105; non-verbal IQ, 103; verbal IQ, 106
43581291
43647444
66154
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12787.p1
7.8
M
Autism
NA
Full-scale IQ, 101; non-verbal IQ, 130; verbal IQ, 88
43622175
43630820
8646
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12788.p1
12.5
M
Autism
NA
Full-scale IQ, 93; non-verbal IQ, 94; verbal IQ, 95
43596778
43692767
95990
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
43623873
43647444
23572
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-13067.p1
5
M
Autism
NA
Full-scale IQ, 93; non-verbal IQ, 99; verbal IQ, 88
43622175
43658920
36746
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-13096.p1
5.6
M
Autism
NA
Full-scale IQ, 107; non-verbal IQ, 111; verbal IQ, 99
43622175
43648608
26434
GRCh38
Deletion
No
soueid_16_ASD_discovery_cases-caseCLIN19
N/A
M
Autism
Case fulfilled DSM-V criteria for autism; no other information available
43566859
43749434
182576
GRCh38
Duplication
No
soueid_16_DD/ID_discovery_cases-case4
N/A
N/A
Developmental delay/intellectual disability
43566859
43749434
182576
GRCh38
Duplication
No
yingjun_17_ASD_discovery_cases-case4626
N/A
N/A
ASD
Diagnosis of ASD based on Autism Behavior Checklist (ABC) and Childhood Autism Rating Scale (CARS). No further clinical information available.
43615577
43741887
126311
GRCh38
Deletion
No
yingjun_17_ASD_discovery_cases-case7756
N/A
N/A
ASD
Diagnosis of ASD based on Autism Behavior Checklist (ABC) and Childhood Autism Rating Scale (CARS). No further clinical information available.
43596976
43762536
165561
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
brandler_18_ASD_replication_controls-controlSSC07538
N/A
F
control
Control from SSC_phase2 cohort
43508723
43509222
500
GRCh38
Deletion
No
kanduri_15_ASD_discovery_controls-control_split164
N/A
N/A
Control
Control screened for DSM-IV mental disorders using the Composite International Diagnostic Interview and psychotic disorders using the research version of the Structured Clinical Interview for DSM-IV
43888976
43939642
50667
Unknown
Deletion
No
sanders_11_ASD_discovery_controls-11203.s1
4
F
Control (matched sibling)
NA
NA
43581291
43658920
77630
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11439.s1
4.8
M
Control (matched sibling)
NA
NA
43581291
43658920
77630
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11504.s1
5.8
M
Control (matched sibling)
NA
NA
43622175
43648608
26434
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11519.s1
4.3
F
Control (matched sibling)
NA
NA
43541847
43648608
106762
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11567.s1
7.7
M
Control (matched sibling)
NA
NA
43596778
43603445
6668
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11794.s1
4.3
F
Control (matched sibling)
NA
NA
44306346
44313341
6996
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11990.s1
13.4
M
Control (matched sibling)
NA
NA
43596778
43648608
51831
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12078.s1
5.8
F
Control (matched sibling)
NA
NA
43602295
43646090
43796
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12083.s1
5.5
F
Control (matched sibling)
NA
NA
43581291
43673233
91943
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12101.s1
5.1
M
Control (matched sibling)
NA
NA
43622175
43648608
26434
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12201.s1
12.1
M
Control (matched sibling)
NA
NA
43581291
43658920
77630
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-12247.s1
6.3
F
Control (matched sibling)
NA
NA
43622175
43647444
25270
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12321.s1
9.8
F
Control (matched sibling)
NA
NA
43599314
43603445
4132
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-12372.s1
13.5
F
Control (matched sibling)
NA
NA
43596778
43648608
51831
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12380.s1
17
F
Control (matched sibling)
NA
NA
43622175
43648608
26434
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12447.s1
7.6
F
Control (matched sibling)
NA
NA
43622175
43648608
26434
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-12588.s1
5.4
M
Control (matched sibling)
NA
NA
43596778
43646090
49313
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12648.s1
11.3
F
Control (matched sibling)
NA
NA
43596778
43658920
62143
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12796.s1
6.8
F
Control (matched sibling)
NA
NA
43622175
43646090
23916
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-12851.s1
5.8
M
Control (matched sibling)
NA
NA
43596778
43603445
6668
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-12969.s1
5.8
M
Control (matched sibling)
NA
NA
43622175
43648608
26434
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-13159.s1
13.6
M
Control (matched sibling)
NA
NA
43596778
43658920
62143
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-13251.s1
6.3
F
Control (matched sibling)
NA
NA
43581291
43648608
67318
GRCh38
Deletion
No
soueid_16_ASD_discovery_controls-control4
N/A
N/A
Control
43566859
43749434
182576
GRCh38
Duplication
No
Cases
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
brandler_18_ASD_replication_cases-case3-0183-000
No validation step reported
Paternal
MFAP1,WDR76
brandler_18_ASD_replication_cases-caseSSC07470
No validation step reported
Paternal
TP53BP1
engchuan_15_ASD_discovery_cases-case5091_4
Unknown
CASC4
engchuan_15_ASD_discovery_cases-case5114_3
Unknown
CASC4
engchuan_15_ASD_discovery_cases-case5330_3
Unknown
CASC4
engchuan_15_ASD_discovery_cases-case5335_3
Unknown
CASC4
engchuan_15_ASD_discovery_cases-case5347_3
Unknown
CASC4
engchuan_15_ASD_discovery_cases-case5349_3
Unknown
CASC4
krumm_13_ASD_discovery_cases-case11479.p1
Maternal
Simplex
Segregated
TP53BP1,TUBGCP4
krumm_13_ASD_discovery_cases-case13018.p1
Solid phase hybridization (Illumina 1M) and aCGH (Agilent SurePrint G3 4x180K)
Maternal
Simplex
Segregated
ADAL
pfundt_16_nonNDD_discovery_cases-case101
MLPA or MAQ
RNU6-554P,RNU6-610P,PDIA3P2,PPIP5K1,CKMT1B,STRC,CKMT1A,CATSPER2
pfundt_16_nonNDD_discovery_cases-case103
MLPA or MAQ
RNU6-554P,RNU6-610P,CKMT1B,STRC,CATSPER2
pfundt_16_nonNDD_discovery_cases-case124
MLPA or MAQ
RNU6-554P,RNU6-610P,PPIP5K1,CKMT1B,STRC,CATSPER2
pfundt_16_nonNDD_discovery_cases-case126
RNU6-554P,RNU6-610P,PPIP5K1,CKMT1B,STRC,CATSPER2
pfundt_16_nonNDD_discovery_cases-case136
MLPA or MAQ
RNU6-554P,RNU6-610P,CKMT1B,STRC,CATSPER2
pfundt_16_nonNDD_discovery_cases-case20
MLPA or MAQ
RNU6-554P,RNU6-610P,PDIA3P2,PPIP5K1,CKMT1B,STRC,CKMT1A,CATSPER2
pfundt_16_nonNDD_discovery_cases-case29
MLPA or MAQ
RNU6-554P,RNU6-610P,PDIA3P2,PPIP5K1,CKMT1B,STRC,CKMT1A,CATSPER2
pfundt_16_nonNDD_discovery_cases-case37
MLPA or MAQ
RNU6-554P,RNU6-610P,PPIP5K1,CKMT1B,STRC,CATSPER2
pfundt_16_nonNDD_discovery_cases-case44
MLPA or MAQ
RNU6-554P,RNU6-610P,PDIA3P2,PPIP5K1,CKMT1B,STRC,CKMT1A,CATSPER2
pfundt_16_nonNDD_discovery_cases-case71
MLPA or MAQ
RNU6-554P,RNU6-610P,PDIA3P2,PPIP5K1,CKMT1B,STRC,CKMT1A,CATSPER2
pfundt_16_nonNDD_discovery_cases-case75
RNU6-554P,RNU6-610P,CKMT1B,STRC,CATSPER2
pfundt_16_nonNDD_discovery_cases-case78
RNU6-554P,RNU6-610P,CKMT1B,STRC,CATSPER2
pfundt_16_nonNDD_discovery_cases-case98
MLPA or MAQ
RNU6-554P,RNU6-610P,PPIP5K1,CKMT1B,STRC,CATSPER2
picinelli_16_ASD/ADHD/DD/ID_discovery_cases-patient3
Maternal
Multi-generational
Unknown
RNU6-610P,PDIA3P2,CKMT1A,CATSPER2
pinto_10_ASD_discovery_cases-case5114_3
qPCR-Maternal
maternal
Multiplex
Not segregated
CASC4
pinto_10_ASD_discovery_cases-case5335_3
Agilent1M
Both parents
Simplex
NA
CASC4
pinto_10_ASD_discovery_cases-case5347_3
Agilent1M
Both parents
Simplex
NA
CASC4
prasad_12_ASD_discovery_cases-caseL384
Unknown
Unknown
Unknown
CASC4
sanders_11_ASD_discovery_cases-11038.p1
Maternal
Simplex (quad-proband matched)
Segregated
RNU6-554P,CKMT1B,STRC
sanders_11_ASD_discovery_cases-11066.p1
Maternal
Simplex (quad-proband unmatched)
Unknown
RNU6-610P,PDIA3P2,CKMT1A,STRCP1,CATSPER2
sanders_11_ASD_discovery_cases-11109.p1
Maternal
Simplex (quad-proband unmatched)
Unknown
RNU6-554P,RNU6-610P,PDIA3P2,CKMT1B,STRC,CKMT1A,CATSPER2
sanders_11_ASD_discovery_cases-11159.p1
Maternal
Simplex (quad-proband matched)
Segregated
RNU6-610P,CATSPER2
sanders_11_ASD_discovery_cases-11322.p1
Unknown
Simplex (trio)
NA
RNU6-554P,RNU6-610P,PDIA3P2,CKMT1B,STRC,CATSPER2
sanders_11_ASD_discovery_cases-11381.p1
Unknown
Simplex (quad-proband matched)
Segregated
RNU6-554P,RNU6-610P,PPIP5K1,CKMT1B,STRC,CATSPER2
sanders_11_ASD_discovery_cases-11439.p1
Unknown
Simplex (quad-proband matched)
Segregated
RNU6-554P,RNU6-610P,PDIA3P2,RNU6-353P,PPIP5K1,CKMT1B,STRC,CKMT1A,STRCP1,CATSPER2P1,CATSPER2
sanders_11_ASD_discovery_cases-11473.p1
Both parents
Simplex (quad-proband matched)
Segregated
RNU6-554P,RNU6-610P,CKMT1B,STRC,CATSPER2
sanders_11_ASD_discovery_cases-11693.p1
Maternal
Simplex (trio)
NA
RNU6-610P,CATSPER2
sanders_11_ASD_discovery_cases-11794.p1
Maternal
Simplex (quad-proband matched)
Not segregated
CASC4
sanders_11_ASD_discovery_cases-11893.p1
Maternal
Simplex (quad-proband unmatched)
Unknown
RNU6-610P,CATSPER2
sanders_11_ASD_discovery_cases-11914.p1
Paternal
Simplex (trio)
NA
RNU6-554P,RNU6-610P,PDIA3P2,CKMT1B,STRC,CATSPER2
sanders_11_ASD_discovery_cases-11938.p1
Both parents
Simplex (trio)
NA
RNU6-554P,RNU6-610P,CKMT1B,STRC,CATSPER2
sanders_11_ASD_discovery_cases-12020.p1
Maternal
Simplex (quad-proband matched)
Not segregated
RNU6-610P,CATSPER2
sanders_11_ASD_discovery_cases-12038.p1
Both parents
Simplex (trio)
NA
RNU6-554P,RNU6-610P,CKMT1B,STRC,CATSPER2
sanders_11_ASD_discovery_cases-12083.p1
Maternal
Simplex (quad-proband matched)
Not segregated
RNU6-554P,RNU6-610P,PPIP5K1,CKMT1B,STRC,CATSPER2
sanders_11_ASD_discovery_cases-12097.p1
Paternal
Simplex (trio)
NA
RNU6-554P,RNU6-610P,CKMT1B,STRC,CATSPER2
sanders_11_ASD_discovery_cases-12101.p1
Both parents
Simplex (quad-proband matched)
Not segregated
RNU6-610P,CATSPER2
sanders_11_ASD_discovery_cases-12119.p1
Paternal
Simplex (trio)
NA
RNU6-610P,CATSPER2
sanders_11_ASD_discovery_cases-12289.p1
Paternal
Simplex (quad-proband matched)
Not segregated
RNU6-610P,PDIA3P2,CATSPER2
sanders_11_ASD_discovery_cases-12369.p1
Maternal
Simplex (quad-proband matched)
Not segregated
RNU6-610P,CATSPER2
sanders_11_ASD_discovery_cases-12372.p1
Maternal
Simplex (quad-proband matched)
Not segregated
RNU6-554P,RNU6-610P,CKMT1B,STRC,CATSPER2
sanders_11_ASD_discovery_cases-12407.p1
Both parents
Simplex (quad-proband matched)
Not segregated
RNU6-554P,RNU6-610P,CKMT1B,STRC,CATSPER2
sanders_11_ASD_discovery_cases-12494.p1
Paternal
Simplex (quad-proband matched)
Not segregated
RNU6-554P,RNU6-610P,PPIP5K1,CKMT1B,STRC,CATSPER2
sanders_11_ASD_discovery_cases-12588.p1
Paternal
Simplex (quad-proband matched)
Not segregated
RNU6-554P,RNU6-610P,CKMT1B,STRC,CATSPER2
sanders_11_ASD_discovery_cases-12742.p1
Maternal
Simplex (trio)
NA
RNU6-554P,RNU6-610P,PPIP5K1,CKMT1B,STRC,CATSPER2
sanders_11_ASD_discovery_cases-12787.p1
Paternal
Simplex (quad-proband matched)
Not segregated
CATSPER2
sanders_11_ASD_discovery_cases-12788.p1
Maternal
Simplex (quad-proband matched)
Not segregated
RNU6-554P,RNU6-610P,PDIA3P2,CKMT1B,STRC,CATSPER2
sanders_11_ASD_discovery_cases-12969.p1
Paternal
Simplex (quad-proband matched)
Not segregated
RNU6-610P,CATSPER2
sanders_11_ASD_discovery_cases-13067.p1
Maternal
Simplex (trio)
NA
RNU6-610P,PDIA3P2,CATSPER2
sanders_11_ASD_discovery_cases-13096.p1
Maternal
Simplex (quad-proband unmatched)
Unknown
RNU6-610P,CATSPER2
soueid_16_ASD_discovery_cases-caseCLIN19
Both parents
Multiplex
RNU6-554P,RNU6-610P,PDIA3P2,RNU6-353P,RNU6-354P,PPIP5K1,CKMT1B,STRC,CKMT1A,STRCP1,CATSPER2P1,PDIA3,CATSPER2
soueid_16_DD/ID_discovery_cases-case4
Unknown
Unknown
Unknown
RNU6-554P,RNU6-610P,PDIA3P2,RNU6-353P,RNU6-354P,PPIP5K1,CKMT1B,STRC,CKMT1A,STRCP1,CATSPER2P1,PDIA3,CATSPER2
yingjun_17_ASD_discovery_cases-case4626
N/A (Validation of some CNVs by FISH or qPCR was described, but the identity of validated CNVs was not reported)
Unknown
Unknown
Unknown
RNU6-610P,PDIA3P2,RNU6-353P,RNU6-354P,STRC,CKMT1A,STRCP1,CATSPER2P1,CATSPER2
yingjun_17_ASD_discovery_cases-case7756
N/A (Validation of some CNVs by FISH or qPCR was described, but the identity of validated CNVs was not reported)
Unknown
Unknown
Unknown
RNU6-554P,RNU6-610P,PDIA3P2,RNU6-353P,RNU6-354P,CKMT1B,STRC,CKMT1A,STRCP1,CATSPER2P1,PDIA3,CATSPER2
Controls
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
brandler_18_ASD_replication_controls-controlSSC07538
No validation step reported
Paternal
TP53BP1
kanduri_15_ASD_discovery_controls-control_split164
Unknown
CATSPER2,CKMT1B,STRC
sanders_11_ASD_discovery_controls-11203.s1
Maternal
Simplex (quad)
NA
RNU6-554P,RNU6-610P,PDIA3P2,PPIP5K1,CKMT1B,STRC,CATSPER2
sanders_11_ASD_discovery_controls-11439.s1
Paternal
Simplex (quad)
NA
RNU6-554P,RNU6-610P,PDIA3P2,PPIP5K1,CKMT1B,STRC,CATSPER2
sanders_11_ASD_discovery_controls-11504.s1
Paternal
Simplex (quad)
NA
RNU6-610P,CATSPER2
sanders_11_ASD_discovery_controls-11519.s1
Both parents
Simplex (quad)
NA
RNU6-554P,RNU6-610P,PPIP5K1,CKMT1B,STRC,CATSPER2
sanders_11_ASD_discovery_controls-11567.s1
Both parents
Simplex (quad)
NA
RNU6-554P,CKMT1B,STRC
sanders_11_ASD_discovery_controls-11794.s1
Maternal
Simplex (quad)
NA
CASC4
sanders_11_ASD_discovery_controls-11990.s1
Unknown
Simplex (quad)
NA
RNU6-554P,RNU6-610P,CKMT1B,STRC,CATSPER2
sanders_11_ASD_discovery_controls-12078.s1
Paternal
Simplex (quad)
NA
RNU6-554P,RNU6-610P,CKMT1B,STRC,CATSPER2
sanders_11_ASD_discovery_controls-12083.s1
Both parents
Simplex (quad)
NA
RNU6-554P,RNU6-610P,PDIA3P2,PPIP5K1,CKMT1B,STRC,CATSPER2
sanders_11_ASD_discovery_controls-12101.s1
Maternal
Simplex (quad)
NA
RNU6-610P,CATSPER2
sanders_11_ASD_discovery_controls-12201.s1
Maternal
Simplex (quad)
NA
RNU6-554P,RNU6-610P,PDIA3P2,PPIP5K1,CKMT1B,STRC,CATSPER2
sanders_11_ASD_discovery_controls-12247.s1
Maternal
Simplex (quad)
NA
RNU6-610P,CATSPER2
sanders_11_ASD_discovery_controls-12321.s1
Paternal
Simplex (quad)
NA
RNU6-554P,CKMT1B,STRC
sanders_11_ASD_discovery_controls-12372.s1
Maternal
Simplex (quad)
NA
RNU6-554P,RNU6-610P,CKMT1B,STRC,CATSPER2
sanders_11_ASD_discovery_controls-12380.s1
Paternal
Simplex (quad)
NA
RNU6-610P,CATSPER2
sanders_11_ASD_discovery_controls-12447.s1
Paternal
Simplex (quad)
NA
RNU6-610P,CATSPER2
sanders_11_ASD_discovery_controls-12588.s1
Paternal
Simplex (quad)
NA
RNU6-554P,RNU6-610P,CKMT1B,STRC,CATSPER2
sanders_11_ASD_discovery_controls-12648.s1
Unknown
Simplex (quad)
NA
RNU6-554P,RNU6-610P,PDIA3P2,CKMT1B,STRC,CATSPER2
sanders_11_ASD_discovery_controls-12796.s1
Maternal
Simplex (quad)
NA
RNU6-610P,CATSPER2
sanders_11_ASD_discovery_controls-12851.s1
Maternal
Simplex (quad)
NA
RNU6-554P,CKMT1B,STRC
sanders_11_ASD_discovery_controls-12969.s1
Paternal
Simplex (quad)
NA
RNU6-610P,CATSPER2
sanders_11_ASD_discovery_controls-13159.s1
Paternal
Simplex (quad)
NA
RNU6-554P,RNU6-610P,PDIA3P2,CKMT1B,STRC,CATSPER2
sanders_11_ASD_discovery_controls-13251.s1
Unknown
Simplex (quad)
NA
RNU6-554P,RNU6-610P,PPIP5K1,CKMT1B,STRC,CATSPER2
soueid_16_ASD_discovery_controls-control4
RNU6-554P,RNU6-610P,PDIA3P2,RNU6-353P,RNU6-354P,PPIP5K1,CKMT1B,STRC,CKMT1A,STRCP1,CATSPER2P1,PDIA3,CATSPER2
No Animal Model Data Available