8q24.21CNV Type: Deletion-Duplication
Largest CNV size: 62194 bp
Statistics Box:
Number of Reports: 13
Number of Reports: 13
Summary Information
Summary statement in development
Additional Locus Information
References
Major Reports
Title
Author, Year
Report Class
CNV Type
Structural variation of chromosomes in autism spectrum disorder.
Deletion
An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabili...
Duplication
Minor Reports
Title
Author, Year
Report Class
CNV Type
Rare structural variation of synapse and neurotransmission genes in autism.
Duplication
Reduced transcript expression of genes affected by inherited and de novo CNVs in autism.
Deletion
Multiple recurrent de novo CNVs, including duplications of the 7q11.23 Williams syndrome region, are strongly associated with autism.
Deletion-Duplication
Use of array CGH to detect exonic copy number variants throughout the genome in autism families detects a novel deletion in TMLHE.
Deletion
A discovery resource of rare copy number variations in individuals with autism spectrum disorder.
Deletion-Duplication
Refinement and discovery of new hotspots of copy-number variation associated with autism spectrum disorder.
Duplication
Transmission disequilibrium of small CNVs in simplex autism.
Duplication
Identification of small exonic CNV from whole-exome sequence data and application to autism spectrum disorder.
Duplication
Performance of case-control rare copy number variation annotation in classification of autism.
Deletion-Duplication
Paternally inherited cis-regulatory structural variants are associated with autism.
Deletion
Cases
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
brandler_18_ASD_replication_cases
Affected individuals from MSSNG cohort (1395 cases from 1187 families) and the Simons Simplex 2 (SSC2) cohort (584 cases from simplex quad families)
1979
Cases diagnosed with ASD
N/A
N/A
50174
1
0
1
celestino-soper_11_ASD_discovery_cases
ASD probands from Simons Simplex Collection (SSC) trios. 90 of the probands in this study were also used in the Sanders et al. 2011 CNV report.
99
ASD
87.88% Male
3397
1
0
1
engchuan_15_ASD_discovery_cases
Samples from the Autism Genome Project (AGP)
1892
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
N/A
85.78% Male
264876
1
2
3
gai_11_ASD_discovery_cases
Discovery case samples derived from AGRE set 4 (most recent patient recruitment)
631
Idiopathic autism; cases designated as 'spectrum' and 'not quite autism' excluded, as were cases with known genetic syndromes or other non-idiopathic causes
247933
0
1
1
girirajan_13a_ASD_discovery_cases
1979 simplex cases from the Simons Simplex Collection (SSC), 579 multiplex cases from AGRE.
2588
Diagnosis of ASD based on meeting criteria on the Autism Diagnostic Observation Schedule (ADOS) and on the Autism Diagnostic Interview, Revised (ADI-R)
NA
NA
267000
0
1
1
kaminsky_11_DD/ID/ASD_discovery_cases
Cases from the International Standards for Cytogenomic Arrays (ISCA) consortium
15749
Unexplained developmental delay, intellectual disability, dysmorphic features, multiple congenital anomalies, autism spectrum disorders, or clinical features suggestive of a chromosomal syndrome
NA
NA
740236
0
1
1
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
4365
0
1
1
krumm_15_ASD_discovery_cases
Probands from the Simons Simplex Collection
2377
Diagnosis of ASD
N/A
N/A
2711
0
2
2
marshall_08_ASD_discovery_cases
Cohort of ASD families (237 simplex, 189 mulitplex) recruited from the Hospital for Sick Children, McMaster Univ., Memorial Univ., and other sites
427
ASD
62194
1
0
1
nord_11_ASD_discovery_cases
Youth with ASD (as part of mother-father-child trios)
41
ASD
85.4% Male
21792
1
0
1
poultney_13_ASD_discovery_cases
ASD cases of European ancestry from AGRE retained after filtering (original cohort size of 432 cases)
299
Cases diagnosed with ASD
N/A
79.86% Male (before filtering)
265523
0
1
1
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
85751
2
3
5
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
38759
23
11
34
Controls
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
engchuan_15_ASD_discovery_controls
Platform-matched controls from three large studies: SAGE (Study of Addiction Genetics and Environment), Ontario Colorectal Cancer study, and HABC (Health Aging and Body Composition)
2342
Controls; subjects had no previous psychiatric history
N/A
46.67% Male
268129
0
1
1
kaminsky_11_DD/ID/ASD_discovery_controls
Controls from the International Standards for Cytogenomic Arrays (ISCA) consortium
10118
Controls
NA
NA
NA
NA
NA
NA
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
283728
1
1
2
krumm_13_ASD_discovery_controls
Unaffected siblings of ASD probands from quad families ascertained as part of the Simons Simplex Collection (SSC); CNVs detected using data from four previously published exome sequencing studies (O'Roak et al., 2011; Iossifov et al., 2012; O'Roak et al., 2012; Sanders et al., 2012)
411
Control (unaffected siblings of ASD probands). Social Responsiveness Scale (SRS) used as a quantitative measure of social deficits
N/A
46.47% Male
0
0
0
0
krumm_15_ASD_discovery_controls
Unaffected siblings from quad families from the Simons Simplex Collection
1786
Control
N/A
N/A
0
0
0
0
marshall_08_ASD_discovery_controls_1
German PopGen project and entries from Database of Genomic Variants
500
Controls
0
0
0
0
marshall_08_ASD_discovery_controls_2
Non-disease controls from Ontario population
1152
Controls
0
0
0
0
nord_11_ASD_discovery_controls
Samples from 367 total control individuals (319 European American, 48 African American) used to test for differences in rare CNV prevalence compared with autism cases
123
Controls (no history of psychiatric symptoms by self-report)
30 yrs.
0
0
0
0
poultney_13_ASD_discovery_controls
Controls matched for European ancestry from NIMH and CEPH retained after filtering (original cohort size of 379 controls)
260
Control
N/A
47.49% Male (before filtering)
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)
85751
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.
16206
11
12
23
Cases
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
brandler_18_ASD_replication_cases
N/A
WGS
Illumina HiSeq X10
ForestSV, Lumpy, Manta, Mobster, SV2
None
celestino-soper_11_ASD_discovery_cases
aCGH
Agilent 1M
ADM-2
Agilent Feature Extraction v10.7.3.1, Agilent DNA Analytics v4.0.76
None
engchuan_15_ASD_discovery_cases
Caucasian
Solid phase hybridization
Illumina 1M
None
gai_11_ASD_discovery_cases
European
Solid phase hybridization
Illumina Infinium II HumanHap550 BeadChip
BeadStudio 3.0
None
girirajan_13a_ASD_discovery_cases
NA
aCGH
Custom microarray with a high density of probes targeted to 1,367 regions with a susceptible genomic architecture
ADM-2
Agilent Genomic Workbench
None
kaminsky_11_DD/ID/ASD_discovery_cases
NA
aCGH
Agilent 44K, Agilent 105K
Feature Extraction, DNA Analytics
FISH, qPCR, MLPA, aCGH, standard G-banded chromosome analysis
krumm_13_ASD_discovery_cases
N/A
WES
Whole exome sequencing platforms used in four recent publications (O'Roak et al., 2011; Sanders et al., 2012; O'Roak et al., 2012, and Iossifov et al., 2012)
DNACopy, CGHCall
CoNIFER
None
krumm_15_ASD_discovery_cases
N/A
WES
CoNIFER, XHMM
Solid phase hybridization (Illumina 1M, 1 M Duo, or Omni 2.5)
marshall_08_ASD_discovery_cases
90% European, 4.5% European-mixed, 4.5% Asian, 0.07% African
Array SNP, karotyping
Affymetrix 500K
dChip, CNAG, GEMCA
qPCR, qmPCR
nord_11_ASD_discovery_cases
29 European American, 3 Asian American, 2 Hispanic, 2 African American, 5 unknown ancestry
aCGH
NimbleGen HD2
Sliding-window algorithm, ~10 kb minumum size threshold
None
poultney_13_ASD_discovery_cases
European
WES
Agilent SureSelect Human All Exon v.2
XHMM
None
prasad_12_ASD_discovery_cases
Canada
aCGH
Agilent 1M
ADM-2, DNAcopy (R Bioconductor)
DNA Analytics v4.0.85 (Agilent), DNAcopy
None
sanders_11_ASD_discovery_cases
White non-Hispanic, 74.5%; mixed, 9.3%, Asian, 4.3%, White Hispanic, 4.0%, African-American, 3.8%; other, 4.2&
Solid phase hybridization
Illumina 1M v1, Illumina 1M v3
PennCNV, QuantiSNP, GNOSIS
Controls
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
engchuan_15_ASD_discovery_controls
Caucasian
Solid phase hybridization
Illumina 1M
None
kaminsky_11_DD/ID/ASD_discovery_controls
NA
aCGH
Agilent 44K, Agilent 105K
Feature Extraction, DNA Analytics
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
krumm_15_ASD_discovery_controls
N/A
WES
CoNIFER, XHMM
None
marshall_08_ASD_discovery_controls_1
European
Array SNP, karotyping
Affymetrix 500K
dChip, CNAG, GEMCA
marshall_08_ASD_discovery_controls_2
European
Array SNP, karotyping
Affymetrix 500K
dChip, CNAG, GEMCA
nord_11_ASD_discovery_controls
aCGH
NimbleGen HD2
Sliding-window algorithm, ~10 kb minumum size threshold
None
poultney_13_ASD_discovery_controls
European
WES
Agilent SureSelect Human All Exon v.2
XHMM
prasad_12_ASD_discovery_controls
NA
aCGH
Agilent 1M
ADM-2, DNAcopy (R Bioconductor)
DNA Analytics v4.0.85 (Agilent), DNAcopy
sanders_11_ASD_discovery_controls
Solid phase hybridization
Illumina 1M v1 or Illumina 1M v3
PennCNV, QuantiSNP, GNOSIS
Cases
Patient ID
Author, Year
Age
Gender
Primary Diagnosis
Clinical Profile
Cognitive Profile
CNV Start
CNV End
CNV Size
Genome Build
Type Method
Validation
brandler_18_ASD_replication_cases-case2-1561-003
N/A
M
ASD
Case from MSSNG cohort
130302052
130352225
50174
GRCh38
Deletion
No
celestino-soper_11_ASD_discovery_cases-11102
NA
M
ASD
NA
NA
130112296
130115693
3398
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case20069_1328001
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
127484261
127519628
35368
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case3439_3
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
129846631
130106412
259782
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case6359_3
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
129846631
130111507
264877
GRCh38
Duplication
No
gai_11_ASD_discovery_cases-AU1379301
Autism
130925320
131173252
247933
Unknown
Duplication
No
girirajan_13a_ASD_discovery_cases-AU1379301
N/A
N/A
ASD
Diagnosis of ASD based on meeting criteria on the Autism Diagnostic Observation Schedule (ADOS) and on the Autism Diagnostic Interview, Revised (ADI-R)
N/A
129848572
130118572
270001
GRCh38
Duplication
No
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000784
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
127118340
127858575
740236
GRCh38
Duplication
Yes
krumm_13_ASD_discovery_cases-case11472.p1
N/A
F
ASD
ASD proband from SSC quad family 11472. SRS score of 90.
Full-scale IQ (FSIQ) score of 30.
127736593
127740958
4366
GRCh38
Duplication
No (not tested)
krumm_15_ASD_discovery_cases-case11472.p1
N/A
Female
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
127738247
127740958
2712
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_cases-case12704.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
127738247
127740958
2712
GRCh38
Duplication
Yes
marshall_08_ASD_discovery_cases-SK0292-003
NA
F
ASD
NA
NA
129385572
129447765
62194
GRCh38
Deletion
Yes
nord_11_ASD_discovery_cases-250-1
ASD
130179840
130201631
21792
Unknown
Deletion
No
poultney_13_ASD_discovery_cases-case05HI4726A
N/A
M
ASD
ASD case from AGRE (AGRE ID AU1379301; NDAR ID NDAR_INVGV976FLF)
129846802
130112324
265523
GRCh38
Duplication
No
prasad_12_ASD_discovery_cases-case100573L
NA
F
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
130446546
130532296
85751
Unknown
Deletion
No
prasad_12_ASD_discovery_cases-case107433
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
128820586
128828008
7423
Unknown
Duplication
No
prasad_12_ASD_discovery_cases-case62261L
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
130860880
130906220
45341
Unknown
Duplication
No
prasad_12_ASD_discovery_cases-case65524
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
127686753
127713601
26849
Unknown
Duplication
No
prasad_12_ASD_discovery_cases-case79785
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
129018184
129028926
10743
Unknown
Deletion
No
sanders_11_ASD_discovery_cases-11002.p1
7.7
F
Autism
NA
Full-scale IQ, 100; non-verbal IQ, 111; verbal IQ, 80
129496395
129497391
997
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11027.p1
9.3
M
ASD
NA
Full-scale IQ, 83; non-verbal IQ, 84; verbal IQ, 86
129496395
129497391
997
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11040.p1
4.7
M
Autism
NA
Full-scale IQ, 62; non-verbal IQ, 67; verbal IQ, 64
129496395
129497822
1428
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11088.p1
5.7
M
Autism
NA
Full-scale IQ, 92; non-verbal IQ, 102; verbal IQ, 80
129496395
129497822
1428
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11124.p1
11.1
M
Autism
NA
Full-scale IQ, 57; non-verbal IQ, 72; verbal IQ, 44
129496395
129497822
1428
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11132.p1
4.3
M
Autism
NA
Full-scale IQ, 47; non-verbal IQ, 49; verbal IQ, 32
129496395
129497391
997
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11133.p1
17
M
Autism
NA
Full-scale IQ, 128; non-verbal IQ, 110; verbal IQ 140
128741062
128743214
2153
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11134.p1
13.6
M
Autism
NA
Full-scale IQ, 117; non-verbal IQ, 115; verbal IQ 116
128741062
128743214
2153
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11179.p1
13.3
M
Autism
NA
Full-scale IQ, 57; non-verbal IQ, 65; verbal IQ, 41
129496395
129497822
1428
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11245.p1
10.9
M
Autism
NA
Full-scale IQ, 111; non-verbal IQ, 107; verbal IQ, 117
128205801
128212448
6648
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11247.p1
5.8
M
Autism
NA
Full-scale IQ, 128; non-verbal IQ, 129; verbal IQ, 118
129496395
129497822
1428
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11414.p1
12.7
F
Autism
NA
Full-scale IQ, 79; non-verbal IQ, 83; verbal IQ, 80
129496395
129497822
1428
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11435.p1
17.7
M
Autism
NA
Full-scale IQ, 65; non-verbal IQ, 63; verbal IQ, 70
129496395
129497391
997
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11437.p1
16.6
M
Autism
NA
Full-scale IQ, 82; non-verbal IQ, 102; verbal IQ, 65
129496395
129497391
997
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11469.p1
15.9
M
Autism
NA
Full-scale IQ, 109; non-verbal IQ, 97; verbal IQ, 128
128741062
128743214
2153
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11522.p1
11.3
M
Autism
NA
Full-scale IQ, 67; non-verbal IQ, 79; verbal IQ, 60
129103398
129118358
14961
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11619.p1
5.5
M
Autism
NA
Full-scale IQ, 107; non-verbal IQ, 105; verbal IQ, 108
128741062
128743214
2153
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11679.p1
6.4
M
Autism
NA
Full-scale IQ, 97; non-verbal IQ, 106; verbal IQ, 84
128741062
128743214
2153
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11765.p1
11.2
M
Autism
NA
Full-scale IQ, 34; non-verbal IQ, 39; verbal IQ, 24
128741062
128743214
2153
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11792.p1
10.5
M
Autism
NA
Full-scale IQ, 107; non-verbal IQ, 100; verbal IQ, 119
129496395
129497822
1428
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11843.p1
14.3
F
Autism
NA
Full-scale IQ, 115; non-verbal IQ, 113; verbal IQ, 117
129496395
129497822
1428
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11969.p1
14.3
M
Autism
NA
Full-scale IQ, 104; non-verbal IQ, 102; verbal IQ, 108
129496395
129497391
997
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12001.p1
5.1
M
Autism
NA
Full-scale IQ, 108; non-verbal IQ, 104; verbal IQ, 111
129786938
129825697
38760
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
129496395
129497391
997
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
129496395
129497391
997
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
129496395
129497822
1428
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12208.p1
7.4
M
Autism
NA
Full-scale IQ, 109; non-verbal IQ, 118; verbal IQ, 89
128741062
128743214
2153
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12327.p1
14.6
M
Autism
NA
Full-scale IQ, 97; non-verbal IQ, 108; verbal IQ, 83
128831556
128847762
16207
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12349.p1
4.9
M
ASD
NA
Full-scale IQ, 81; non-verbal IQ, 81; verbal IQ, 90
129496395
129497391
997
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12582.p1
6.3
M
Autism
NA
Full-scale IQ, 57; non-verbal IQ, 73; verbal IQ, 45
129094808
129118358
23551
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12736.p1
4.8
M
Autism
NA
Full-scale IQ, 101; non-verbal IQ, 111; verbal IQ, 86
128741062
128743214
2153
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-13019.p1
5.1
M
Autism
NA
Full-scale IQ, 36; non-verbal IQ, 52; verbal IQ, 20
129496395
129497391
997
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-13033.p1
4.7
M
Autism
NA
Full-scale IQ, 55; non-verbal IQ, 67; verbal IQ, 43
128741062
128743214
2153
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-13183.p1
5.8
M
Autism
NA
Full-scale IQ, 60; non-verbal IQ, 69; verbal IQ, 56
127055055
127064300
9246
GRCh38
Deletion
No
Controls
Patient ID
Author, Year
Age
Gender
Primary Diagnosis
Clinical Profile
Cognitive Profile
CNV Start
CNV End
CNV Size
Genome Build
Type Method
Validation
engchuan_15_ASD_discovery_controls-controlHABC_900318_900318
N/A
N/A
Control
No previous psychiatric history
129838697
130106826
268130
GRCh38
Duplication
No
kanduri_15_ASD_discovery_controls-control_split1307
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
129284351
129568078
283728
Unknown
Duplication
No
kanduri_15_ASD_discovery_controls-control_split870
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
128507602
128517573
9972
Unknown
Deletion
No
sanders_11_ASD_discovery_controls-11010.s1
7.7
M
Control (matched sibling)
NA
NA
129496395
129497391
997
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11029.s1
7.8
M
Control (matched sibling)
NA
NA
129496395
129497391
997
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11090.s1
14.8
M
Control (matched sibling)
NA
NA
129496395
129500626
4232
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11099.s1
14.5
F
Control (matched sibling)
NA
NA
129496395
129497822
1428
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11205.s1
4.8
F
Control (matched sibling)
NA
NA
129496395
129497391
997
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11229.s1
6.1
M
Control (matched sibling)
NA
NA
129496395
129497822
1428
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11304.s1
8.3
F
Control (matched sibling)
NA
NA
129496395
129497391
997
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11309.s1
13.6
F
Control (matched sibling)
NA
NA
129496395
129497822
1428
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11466.s1
7.3
F
Control (matched sibling)
NA
NA
129496395
129497822
1428
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11616.s1
6.8
M
Control (matched sibling)
NA
NA
129496395
129497822
1428
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11665.s1
12.9
M
Control (matched sibling)
NA
NA
129496395
129497822
1428
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11716.s1
11.6
M
Control (matched sibling)
NA
NA
129496395
129497822
1428
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11792.s1
8.6
M
Control (matched sibling)
NA
NA
129496395
129497822
1428
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11843.s1
16.9
F
Control (matched sibling)
NA
NA
129496395
129497822
1428
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11922.s1
13.4
M
Control (matched sibling)
NA
NA
128741062
128743214
2153
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11948.s1
11.8
M
Control (matched sibling)
NA
NA
129496395
129497822
1428
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11963.s1
6.1
F
Control (matched sibling)
NA
NA
129496395
129497822
1428
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11969.s1
17.5
M
Control (matched sibling)
NA
NA
129496395
129497391
997
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12327.s1
16.3
F
Control (matched sibling)
NA
NA
128831556
128847762
16207
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12463.s1
12.3
F
Control (matched sibling)
NA
NA
128205801
128212448
6648
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12499.s1
9.4
M
Control (matched sibling)
NA
NA
128741062
128743214
2153
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-13175.s1
13.7
F
Control (matched sibling)
NA
NA
128741062
128743214
2153
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-13183.s1
10.8
F
Control (matched sibling)
NA
NA
127055055
127064300
9246
GRCh38
Deletion
No
Cases
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
brandler_18_ASD_replication_cases-case2-1561-003
No validation step reported
Maternal
ASAP1
celestino-soper_11_ASD_discovery_cases-11102
Unknown
Simplex
NA
ASAP1
engchuan_15_ASD_discovery_cases-case20069_1328001
Unknown
engchuan_15_ASD_discovery_cases-case3439_3
Unknown
RNU7-181P,MIR5194,RNU6-1255P,ASAP1-IT2,FAM49B,ASAP1
engchuan_15_ASD_discovery_cases-case6359_3
Unknown
RNU7-181P,MIR5194,RNU6-1255P,ASAP1-IT2,FAM49B,ASAP1
gai_11_ASD_discovery_cases-AU1379301
Inherited
FAM49B, ASAP1
girirajan_13a_ASD_discovery_cases-AU1379301
Unknown
Multiplex
Unknown
RNU7-181P,MIR5194,RNU6-1255P,ASAP1-IT2,FAM49B,ASAP1
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000784
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
De novo
Unknown
Unknown
MYC,MIR1204,CASC11,CASC19,CASC8,POU5F1B,CCAT2,PCAT1,PVT1
krumm_13_ASD_discovery_cases-case11472.p1
Maternal
Simplex
Segregated
MYC
krumm_15_ASD_discovery_cases-case11472.p1
Illumina 1MDuo
Maternal
Simplex
Segregated
MYC
krumm_15_ASD_discovery_cases-case12704.p1
Illumina 1MDuo
Paternal
Simplex
Segregated
MYC
marshall_08_ASD_discovery_cases-SK0292-003
qPCR, qmPCR
Unknown
NA
NA
CCDC26
nord_11_ASD_discovery_cases-250-1
Maternal
0 genes
poultney_13_ASD_discovery_cases-case05HI4726A
Unknown
Unknown (likely multiplex/AGRE)
Unknown
RNU7-181P,MIR5194,RNU6-1255P,ASAP1-IT2,FAM49B,ASAP1
prasad_12_ASD_discovery_cases-case100573L
Unknown
Unknown
Unknown
0 genes
prasad_12_ASD_discovery_cases-case107433
Unknown
Unknown
Unknown
MYC
prasad_12_ASD_discovery_cases-case62261L
Unknown
Unknown
Unknown
GSDMC
prasad_12_ASD_discovery_cases-case65524
Unknown
Unknown
Unknown
0 genes
prasad_12_ASD_discovery_cases-case79785
Unknown
Unknown
Unknown
PVT1
sanders_11_ASD_discovery_cases-11002.p1
Both parents
Simplex (quad-proband matched)
Segregated
CCDC26
sanders_11_ASD_discovery_cases-11027.p1
Both parents
Simplex (quad-proband matched)
Not segregated
CCDC26
sanders_11_ASD_discovery_cases-11040.p1
Both parents
Simplex (quad-proband matched)
Not segregated
CCDC26
sanders_11_ASD_discovery_cases-11088.p1
Unknown
Simplex (quad-proband matched)
Not segregated
CCDC26
sanders_11_ASD_discovery_cases-11124.p1
Both parents
Simplex (quad-proband matched)
Segregated
CCDC26
sanders_11_ASD_discovery_cases-11132.p1
Paternal
Simplex (quad-proband matched)
Segregated
CCDC26
sanders_11_ASD_discovery_cases-11133.p1
Paternal
Simplex (trio)
NA
CCDC26
sanders_11_ASD_discovery_cases-11134.p1
Maternal
Simplex (trio)
NA
CCDC26
sanders_11_ASD_discovery_cases-11179.p1
Both parents
Simplex (quad-proband matched)
Not segregated
CCDC26
sanders_11_ASD_discovery_cases-11245.p1
Paternal
Simplex (quad-proband matched)
Segregated
sanders_11_ASD_discovery_cases-11247.p1
Maternal
Simplex (quad-proband matched)
Segregated
CCDC26
sanders_11_ASD_discovery_cases-11414.p1
Maternal
Simplex (quad-proband matched)
Not segregated
CCDC26
sanders_11_ASD_discovery_cases-11435.p1
Maternal
Simplex (quad-proband matched)
Not segregated
CCDC26
sanders_11_ASD_discovery_cases-11437.p1
Unknown
Simplex (quad-proband matched)
Not segregated
CCDC26
sanders_11_ASD_discovery_cases-11469.p1
Paternal
Simplex (quad-proband matched)
Not segregated
CCDC26
sanders_11_ASD_discovery_cases-11522.p1
Paternal
Simplex (quad-proband matched)
Not segregated
CCDC26
sanders_11_ASD_discovery_cases-11619.p1
Maternal
Simplex (trio)
NA
CCDC26
sanders_11_ASD_discovery_cases-11679.p1
Paternal
Simplex (quad-proband matched)
Not segregated
CCDC26
sanders_11_ASD_discovery_cases-11765.p1
Paternal
Simplex (quad-proband matched)
Not segregated
CCDC26
sanders_11_ASD_discovery_cases-11792.p1
Maternal
Simplex (quad-proband matched)
Not segregated
CCDC26
sanders_11_ASD_discovery_cases-11843.p1
Both parents
Simplex (quad-proband matched)
Not segregated
CCDC26
sanders_11_ASD_discovery_cases-11969.p1
Both parents
Simplex (quad-proband matched)
Not segregated
CCDC26
sanders_11_ASD_discovery_cases-12001.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12052.p1
Both parents
Simplex (quad-proband matched)
Not segregated
CCDC26
sanders_11_ASD_discovery_cases-12066.p1
Both parents
Simplex (quad-proband unmatched)
Unknown
CCDC26
sanders_11_ASD_discovery_cases-12078.p1
Paternal
Simplex (quad-proband matched)
Not segregated
CCDC26
sanders_11_ASD_discovery_cases-12208.p1
Paternal
Simplex (trio)
NA
CCDC26
sanders_11_ASD_discovery_cases-12327.p1
Unknown
Simplex (quad-proband matched)
Not segregated
CCDC26
sanders_11_ASD_discovery_cases-12349.p1
Both parents
Simplex (trio)
NA
CCDC26
sanders_11_ASD_discovery_cases-12582.p1
Maternal
Simplex (quad-proband matched)
Not segregated
CCDC26
sanders_11_ASD_discovery_cases-12736.p1
Paternal
Simplex (quad-proband matched)
Not segregated
CCDC26
sanders_11_ASD_discovery_cases-13019.p1
Maternal
Simplex (trio)
NA
CCDC26
sanders_11_ASD_discovery_cases-13033.p1
Maternal
Simplex (trio)
NA
CCDC26
sanders_11_ASD_discovery_cases-13183.p1
Paternal
Simplex (quad-proband matched)
Not segregated
PCAT1
Controls
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
engchuan_15_ASD_discovery_controls-controlHABC_900318_900318
Unknown
RNU7-181P,MIR5194,RNU6-1255P,ASAP1-IT2,FAM49B,ASAP1
kanduri_15_ASD_discovery_controls-control_split1307
Unknown
Intergenic CNV: nearest genes, MIR1208(dist=121917),LINC00977(dist=660635)
kanduri_15_ASD_discovery_controls-control_split870
Unknown
Intergenic CNV: nearest genes, CASC8(dist=13218),MYC(dist=230742)
sanders_11_ASD_discovery_controls-11010.s1
Both parents
Simplex (quad)
NA
CCDC26
sanders_11_ASD_discovery_controls-11029.s1
Unknown
Simplex (quad)
NA
CCDC26
sanders_11_ASD_discovery_controls-11090.s1
Both parents
Simplex (quad)
NA
CCDC26
sanders_11_ASD_discovery_controls-11099.s1
Maternal
Simplex (quad)
NA
CCDC26
sanders_11_ASD_discovery_controls-11205.s1
Maternal
Simplex (quad)
NA
CCDC26
sanders_11_ASD_discovery_controls-11229.s1
Maternal
Simplex (quad)
NA
CCDC26
sanders_11_ASD_discovery_controls-11304.s1
Both parents
Simplex (quad)
NA
CCDC26
sanders_11_ASD_discovery_controls-11309.s1
Paternal
Simplex (quad)
NA
CCDC26
sanders_11_ASD_discovery_controls-11466.s1
Unknown
Simplex (quad)
NA
CCDC26
sanders_11_ASD_discovery_controls-11616.s1
Both parents
Simplex (quad)
NA
CCDC26
sanders_11_ASD_discovery_controls-11665.s1
Both parents
Simplex (quad)
NA
CCDC26
sanders_11_ASD_discovery_controls-11716.s1
Maternal
Simplex (quad)
NA
CCDC26
sanders_11_ASD_discovery_controls-11792.s1
Maternal
Simplex (quad)
NA
CCDC26
sanders_11_ASD_discovery_controls-11843.s1
Both parents
Simplex (quad)
NA
CCDC26
sanders_11_ASD_discovery_controls-11922.s1
Maternal
Simplex (quad)
NA
CCDC26
sanders_11_ASD_discovery_controls-11948.s1
Maternal
Simplex (quad)
NA
CCDC26
sanders_11_ASD_discovery_controls-11963.s1
Unknown
Simplex (quad)
NA
CCDC26
sanders_11_ASD_discovery_controls-11969.s1
Both parents
Simplex (quad)
NA
CCDC26
sanders_11_ASD_discovery_controls-12327.s1
Unknown
Simplex (quad)
NA
CCDC26
sanders_11_ASD_discovery_controls-12463.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12499.s1
Paternal
Simplex (quad)
NA
CCDC26
sanders_11_ASD_discovery_controls-13175.s1
Maternal
Simplex (quad)
NA
CCDC26
sanders_11_ASD_discovery_controls-13183.s1
Paternal
Simplex (quad)
NA
PCAT1
No Animal Model Data Available