21q21.3CNV Type: Deletion-Duplication
Largest CNV size: 189995 bp
Statistics Box:
Number of Reports: 16
Number of Reports: 16
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
Both rare and de novo copy number variants are prevalent in agenesis of the corpus callosum but not in cerebellar hypoplasia or polymicrogyria.
Duplication
Excess of rare, inherited truncating mutations in autism.
Deletion-Duplication
Pathogenic copy number variants and SCN1A mutations in patients with intellectual disability and childhood-onset epilepsy.
Deletion
Minor Reports
Title
Author, Year
Report Class
CNV Type
Rare structural variation of synapse and neurotransmission genes in autism.
Duplication
Novel copy number variants in children with autism and additional developmental anomalies.
Deletion
Multiple recurrent de novo CNVs, including duplications of the 7q11.23 Williams syndrome region, are strongly associated with autism.
Deletion-Duplication
Rare de novo and transmitted copy-number variation in autistic spectrum disorders.
Duplication
A discovery resource of rare copy number variations in individuals with autism spectrum disorder.
Deletion
Identification of candidate intergenic risk loci in 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-Duplication
The Role of mGluR Copy Number Variation in Genetic and Environmental Forms of Syndromic Autism Spectrum Disorder.
Deletion
Rare Inherited and De Novo CNVs Reveal Complex Contributions to ASD Risk in Multiplex Families.
Duplication
Cases
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
davis_09_ASD_discovery_cases
Autistic cases from Autism Genetic Research Exchange (AGRE)
36
ASD: diagnosis confirmed through ADI and in some cases ADOS-G. 17 cases with syndromic autism (autism and less than common craniofacial dysmorphology, limb or digit abnormality, or ocular abnormality), 19 cases selected at random with autism and no associated syndromic features
NA
NA
8019
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
89097
4
2
6
fry_16_DD/ID/EP/ASD_discovery_cases
Participants recruited between 2010 and 2014 and identified through medical genetics, learning disability, and pediatric neurology clinics around Wales
80
All cases presented with childhood-onset epilepsy (25 with epileptic encephalopathy, 22 with non-lesional focal epilepsies, 22 with genetic generalized epilepsy with ID, 11 unclassified or unknown) and developmental delay (DD) or intellectual disability (ID)
Range, <1 yr.-60 yrs.
45.0% Male
240000
1
0
1
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
1209638
0
2
2
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
316512
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
21037
0
1
1
krumm_15_ASD_discovery_cases
Probands from the Simons Simplex Collection
2377
Diagnosis of ASD
N/A
N/A
101722
2
2
4
larson_17_ASD_discovery_cases
Participants with a dual diagnosis of ASD and psychosis that were recruited from clinical services in the public and independent sectors in the United Kingdom, as well as from charities and an Asperger's syndrome social networking website (study took place from January 2011 and April 2014)
116
All cases with a dual diagnosis of ASD and psychosis (affective, schizophrenic, and atypical)
N/A
N/A
31697
0
1
1
leppa_16_ASD_discovery_cases
Children affected with ASD from 1,464 families from the Autism Genetic Resource Exchange (AGRE)
1764
Diagnosis according to ADOS and ADI-R
N/A
N/A
1200000
0
1
1
levy_11_ASD_discovery_cases
Autistic probands from 887 families from the Simons Simplex Collection (SSC)
858
ASD
87.06% Male
132339
0
1
1
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
189995
1
0
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
153691
3
0
3
sajan_13_ACC/CBLH/PMG_discovery_cases
Individuals with severe congenital brain malformations [agenesis of the corpus callosum (ACC), cerebellar hypoplasia (CBLH), and/or polymicrogyria (PMG)] and additional neurodevelopmental phenotypes
487
Diagnosis of agenesis of the corpus callosum (ACC), cerebellar hypoplasia (CBLH), and/or polymicrogyria (PMG); additional diagnoses of autism spectrum disorder (ASD), developmental delay (DD), intellectual disability (ID) and/or seizures in some patients
N/A
N/A
94053
0
1
1
sanders_11_ASD_discovery_cases
Autistic probands from the Simons Simplex Collection (SSC). 872 probands in quartet families, 272 probands in trios.
1124
ASD diagnosis: 89.5% autism; 8.5% PDD-NOS, 2% Asperger syndrome. Mean full-scale IQ 85.1 1.5 (mean verbal IQ, 81.9 1.7; mean non-verbal IQ, 88.4 1.4)
Mean, 9.1 yrs.
86.1% Male
132879
9
3
12
walker_13_ASD_discovery_cases
Unrelated ASD probands previously described in Lionel et al., 2011 and Pinto et al., 2010 CNV reports
1491
Diagnosis of ASD based on gold-standard instruments including ADI and ADOS.
N/A
N/A
53648
1
0
1
wenger_16_ASD_discovery_cases
ASD cases with CNVs containing genes involved in the mGluR network from an initial cohort of 539 cases
62
ASD
N/A
N/A
50318
1
0
1
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
168142
3
1
4
kaminsky_11_DD/ID/ASD_discovery_controls
Controls from the International Standards for Cytogenomic Arrays (ISCA) consortium
10118
Controls
NA
NA
NA
NA
NA
NA
krumm_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
21037
0
1
1
krumm_15_ASD_discovery_controls
Unaffected siblings from quad families from the Simons Simplex Collection
1786
Control
N/A
N/A
66233
1
2
3
larson_17_ASD_discovery_controls
Entries listed in the Database of Genomic Variants (up to October 2017)
N/A
Control
N/A
N/A
31697
0
1
1
levy_11_ASD_discovery_controls
Unaffected siblings of autistic probands from 887 families from the Simons Simplex Collection (SSC)
863
Control
47.97% Male
132339
0
1
1
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
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)
153691
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.
132879
8
2
10
walker_13_ASD_discovery_controls
Control samples from the SAGE cohort (n=1287), from the Ottawa Heart Institute (n=1234), and from the POPGEN collection (n=1123)
3644
Control
N/A
N/A
53648
N/A
N/A
N/A
Cases
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
davis_09_ASD_discovery_cases
NA
Array SNP
Affymetrix 250K Nsp, Affymetrix 250K Syt
HMM
CNAG v2.0
None
engchuan_15_ASD_discovery_cases
Caucasian
Solid phase hybridization
Illumina 1M
None
fry_16_DD/ID/EP/ASD_discovery_cases
78 White British, 1 South Asian, 1 Mixed White/South Asian
aCGH, solid phase hybridization
Illumina610-Quad SNP-array, Illumina OmniExpress SNP-array, BlueGnome CytoChip ISCA 8x60k v2.0 array
PennCNV
Illumina BlueFuse Multi v3.1
Solid phase hybridization (Illumina)
gai_11_ASD_discovery_cases
European
Solid phase hybridization
Illumina Infinium II HumanHap550 BeadChip
BeadStudio 3.0
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)
larson_17_ASD_discovery_cases
United Kingdom
Array SNP
Affymetrix CytoScan HD 2.8M, Affymetrix Cytogenetics
SNP-FASST2 Segmentation
Nexus Copy Number 7 (BioDiscovery), Affymetrix ChAS
None
leppa_16_ASD_discovery_cases
N/A
Solid phase hybridization
Illumina 550v1 and 550v3, Omni-1.0-B and -H, Omni 2.5
PennCNV, QuantiSNP, GNOSIS
GenomeStudio, CNVision
None
levy_11_ASD_discovery_cases
aCGH
NimbleGen HD2
HMM
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
prasad_12_ASD_discovery_cases
Canada
aCGH
Agilent 1M
ADM-2, DNAcopy (R Bioconductor)
DNA Analytics v4.0.85 (Agilent), DNAcopy
None
sajan_13_ACC/CBLH/PMG_discovery_cases
81.31% Caucasian
Solid phase hybridization
Illumina InfiniumII HumanHap610
PennCNV
qPCR
sanders_11_ASD_discovery_cases
White non-Hispanic, 74.5%; mixed, 9.3%, Asian, 4.3%, White Hispanic, 4.0%, African-American, 3.8%; other, 4.2&
Solid phase hybridization
Illumina 1M v1, Illumina 1M v3
PennCNV, QuantiSNP, GNOSIS
walker_13_ASD_discovery_cases
N/A
Array SNP, solid phase hybridization
Illumina 1M, Affymetrix 6.0
QuantiSNP, PennCNV, Birdsuite, iPattern, Affymetrix Genotyping Console
None
wenger_16_ASD_discovery_cases
N/A
Solid phase hybridization
Illumina HumanHap 550 or Illumina Human610-Quad v1.0
PennCNV
None
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
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
Solid phase hybridization (Illumina 1M, 1 M Duo, or Omni 2.5)
larson_17_ASD_discovery_controls
N/A
N/A
N/A
levy_11_ASD_discovery_controls
aCGH
NimbleGen HD2
HMM
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
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
walker_13_ASD_discovery_controls
N/A
Array SNP, solid phase hybridization
Illumina 1M, Affymetrix 6.0
QuantiSNP, PennCNV, Birdsuite, iPattern, Affymetrix Genotyping Console
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
davis_09_ASD_discovery_cases-AU010903
NA
NA
Syndromic ASD
Diagnosis: NQA/ASD on ADOS. Syndromic autism features: syndactyly. Family history: father reported learning disabilities as a child, aunt with mild mental retardation.
27699502
27707521
8019
Unknown
Deletion
No
engchuan_15_ASD_discovery_cases-case14193_3170
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
25818357
25874628
56272
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case14393_5020
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
25811149
25874628
63480
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case3011_3
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
30005858
30064918
59061
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case3272_4
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
25806239
25874628
68390
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case3618_3
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
26649153
26738250
89098
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case5257_3
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
25806239
25859887
53649
GRCh38
Deletion
No
fry_16_DD/ID/EP/ASD_discovery_cases-caseR786
9 yrs.
M
Developmental delay and epilepsy
Clinical features: moderate developmental delay, leg hypertonia, dystonia. Age of seizure onset: 2 years. Epilepsy syndrome: genetic generalized epilepsy with ID (myoclonic). Seizure types: myoclonic seizures, absence seizures, atonic seizures.
Moderate developmental delay
26342944
26583066
240123
GRCh38
Deletion
Yes
gai_11_ASD_discovery_cases-AU1416301
Autism
27161868
28339633
1177766
Unknown
Duplication
No
gai_11_ASD_discovery_cases-AU1416302
Autism
27148423
28358060
1209638
Unknown
Duplication
No
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001212
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
28064166
28380676
316511
GRCh38
Duplication
Yes
krumm_13_ASD_discovery_cases-case11581.p1
N/A
M
ASD
ASD proband from SSC quad family 11581. SRS score of 78.
Full-scale IQ (FSIQ) score of 64.
26924052
26945089
21038
GRCh38
Duplication
No (not tested)
krumm_15_ASD_discovery_cases-case11110.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
28876384
28885347
8964
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_cases-case11581.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
26924052
26954871
30820
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_cases-case11600.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
25573655
25639888
66234
GRCh38
Deletion
Yes
krumm_15_ASD_discovery_cases-case12414.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Trio
28885211
28986934
101724
GRCh38
Deletion
Yes
larson_17_ASD_discovery_cases-case113
N/A
N/A
ASD and psychosis
No additional clinical information available. Patient carries CNV that is present in DGV (less than 1.5%) but was not present in 1124 ASD cases without psychosis from the Simons Simplex Collection.
26441601
26473298
31698
GRCh38
Duplication
No
leppa_16_ASD_discovery_cases-AU1416301
N/A
M
ASD
26867681
28045681
1178001
GRCh38
Duplication
No
levy_11_ASD_discovery_cases-11581.p1
NA
M
ASD
NA
NA
26900907
27033245
132339
GRCh38
Duplication
No
marshall_08_ASD_discovery_cases-SK0118-003
NA
M
ASD
NA
NA
27766216
27956211
189996
GRCh38
Deletion
Yes
prasad_12_ASD_discovery_cases-case75744
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
29577963
29586087
8125
Unknown
Deletion
No
prasad_12_ASD_discovery_cases-case95746
NA
F
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
28116945
28270635
153691
Unknown
Deletion
No
prasad_12_ASD_discovery_cases-case99408
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
26096161
26154398
58238
Unknown
Deletion
No
sajan_13_ACC/CBLH/PMG_discovery_cases-case1428-3A
N/A
N/A
ACC
Diagnosis of agenesis of the corpus callosum (ACC). ASD: unknown. Seizures: unknown.
Developmental delay: unknown. Intellectual disability: unknown.
25850511
25944559
94049
GRCh38
Duplication
Yes
sanders_11_ASD_discovery_cases-11017.p1
4.3
M
Autism
NA
Full-scale IQ, 132; non-verbal IQ, 136; verbal IQ, 116
29102905
29109050
6146
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11110.p1
15.8
M
Autism
NA
Full-scale IQ, 43; non-verbal IQ, 62; verbal IQ, 32
28849087
28883961
34875
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11263.p1
13.2
M
Autism
NA
Full-scale IQ, 97; non-verbal IQ, 100; verbal IQ, 92
28752348
28842550
90203
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11305.p1
14.6
M
Autism
NA
Full-scale IQ, 41; non-verbal IQ, 35; verbal IQ, 60
29491574
29492768
1195
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11509.p1
16.8
M
Autism
NA
Full-scale IQ, 80; non-verbal IQ, 83; verbal IQ, 80
27612839
27621619
8781
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11581.p1
5.7
M
Autism
NA
Full-scale IQ, 64; non-verbal IQ, 78; verbal IQ, 49
26900909
27033788
132880
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11794.p1
8.3
M
Autism
NA
Full-scale IQ, 36; non-verbal IQ, 40; verbal IQ, 33
26652954
26654180
1227
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12414.p1
4.4
M
ASD
NA
Full-scale IQ, 116; non-verbal IQ, 129; verbal IQ, 90
27613230
27621619
8390
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12414.p1
4.4
M
ASD
NA
Full-scale IQ, 116; non-verbal IQ, 129; verbal IQ, 90
28904689
28993001
88313
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12761.p1
5.4
M
Autism
NA
Full-scale IQ, 102; non-verbal IQ, 109; verbal IQ, 89
27612839
27621619
8781
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12796.p1
5.2
M
Autism
NA
Full-scale IQ, 68; non-verbal IQ, 72; verbal IQ, 68
27056787
27133009
76223
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-13301.p1
13.6
M
Autism
NA
Full-scale IQ, 105; non-verbal IQ, 95; verbal IQ, 124
27612839
27621619
8781
GRCh38
Deletion
No
walker_13_ASD_discovery_cases-case2-1189-003
N/A
M
ASD
N/A
N/A
25806239
25859887
53649
GRCh38
Deletion
No
wenger_16_ASD_discovery_cases-case41
N/A
N/A
ASD
Prior clinical diagnosis of genetic syndrome: n/a
29917613
29967930
50318
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-controlB359159_1007874355
N/A
N/A
Control
No previous psychiatric history
25818357
25859887
41531
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlB649707_1007875249
N/A
N/A
Control
No previous psychiatric history
26070280
26161011
90732
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlB744177_1007854062
N/A
N/A
Control
No previous psychiatric history
28307368
28475508
168141
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlHABC_902612_902612
N/A
N/A
Control
No previous psychiatric history
25811149
25874628
63480
GRCh38
Deletion
No
krumm_13_ASD_discovery_controls-control11581.s1
N/A
M
Control
Unaffected sibling from SSC quad family 11581. SRS score of 50.
26924052
26945089
21038
GRCh38
Duplication
No (not tested)
krumm_15_ASD_discovery_controls-control11110.s1
N/A
Male
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
28876384
28883080
6697
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_controls-control11581.s1
N/A
Male
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
26924052
26954871
30820
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_controls-control11600.s1
N/A
Male
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
25573655
25639888
66234
GRCh38
Deletion
Yes
levy_11_ASD_discovery_controls-11581.s1
NA
M
Control
NA
NA
26900907
27033245
132339
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11110.s1
16.8
M
Control (matched sibling)
NA
NA
28849087
28883961
34875
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11205.s1
4.8
F
Control (matched sibling)
NA
NA
27612839
27621619
8781
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11404.s1
4.7
M
Control (matched sibling)
NA
NA
27612839
27621619
8781
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11509.s1
20.3
M
Control (matched sibling)
NA
NA
27613230
27621619
8390
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11541.s1
12.2
F
Control (matched sibling)
NA
NA
27467213
27470955
3743
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11581.s1
6.8
M
Control (matched sibling)
NA
NA
26900909
27033788
132880
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11794.s1
4.3
F
Control (matched sibling)
NA
NA
26652954
26654180
1227
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11977.s1
13.3
F
Control (matched sibling)
NA
NA
27612839
27621619
8781
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-13183.s1
10.8
F
Control (matched sibling)
NA
NA
26652954
26654180
1227
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-13301.s1
12.3
M
Control (matched sibling)
NA
NA
27612839
27621619
8781
GRCh38
Deletion
No
Cases
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
davis_09_ASD_discovery_cases-AU010903
Unknown
Multiplex
Unknown
0 genes
engchuan_15_ASD_discovery_cases-case14193_3170
Unknown
engchuan_15_ASD_discovery_cases-case14393_5020
Unknown
engchuan_15_ASD_discovery_cases-case3011_3
Unknown
engchuan_15_ASD_discovery_cases-case3272_4
Unknown
engchuan_15_ASD_discovery_cases-case3618_3
Unknown
engchuan_15_ASD_discovery_cases-case5257_3
Unknown
fry_16_DD/ID/EP/ASD_discovery_cases-caseR786
Solid phase hybridization (Illumina)
Maternal
CYYR1-AS1,CYYR1
gai_11_ASD_discovery_cases-AU1416301
Inherited
ADAMTS5, NCRNA00113, C21orf94
gai_11_ASD_discovery_cases-AU1416302
Inherited
ADAMTS5, NCRNA00113, C21orf94
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001212
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
LINC01697,LINC01695
krumm_13_ASD_discovery_cases-case11581.p1
Paternal
Simplex
Not segregated
ADAMTS5
krumm_15_ASD_discovery_cases-case11110.p1
Illumina 1MDuo
Paternal
Simplex
Not segregated (CNV in unaffected sibling)
N6AMT1
krumm_15_ASD_discovery_cases-case11581.p1
Illumina 1M
Paternal
Simplex
Not segregated (CNV in unaffected sibling)
MIR4759,ADAMTS5
krumm_15_ASD_discovery_cases-case11600.p1
Illumina 1MDuo
Maternal
Simplex
Not segregated (CNV in unaffected sibling)
MIR155HG,MIR155,LINC00515,MRPL39,JAM2
krumm_15_ASD_discovery_cases-case12414.p1
Illumina 1MDuo
Maternal
Simplex
Segregated
HSPD1P7,THUMPD1P1,N6AMT1,LTN1
larson_17_ASD_discovery_cases-case113
Unknown
Unknown
CYYR1-AS1,CYYR1
leppa_16_ASD_discovery_cases-AU1416301
Paternal
Multiplex
Not segregated (CNV not present in affected sibling)
MIR4759,GPX1P2,EIF4A1P1,RPL10P1,NCSTNP1,ADAMTS5,LINC01673,LINC00113,LINC00314
levy_11_ASD_discovery_cases-11581.p1
Paternal
Simplex
Not segregated
MIR4759,ADAMTS5
marshall_08_ASD_discovery_cases-SK0118-003
qPCR, qmPCR
Unknown
NA
NA
prasad_12_ASD_discovery_cases-case75744
Unknown
Unknown
Unknown
NCRNA00189
prasad_12_ASD_discovery_cases-case95746
Unknown
Unknown
Unknown
0 genes
prasad_12_ASD_discovery_cases-case99408
Unknown
Unknown
Unknown
0 genes
sajan_13_ACC/CBLH/PMG_discovery_cases-case1428-3A
qPCR
Unknown
Unknown
Unknown
RNU6-123P,APP
sanders_11_ASD_discovery_cases-11017.p1
Paternal
Simplex (quad-proband matched)
Segregated
MAP3K7CL
sanders_11_ASD_discovery_cases-11110.p1
Paternal
Simplex (quad-proband matched)
Not segregated
N6AMT1
sanders_11_ASD_discovery_cases-11263.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11305.p1
Paternal
Simplex (quad-proband matched)
Not segregated
BACH1
sanders_11_ASD_discovery_cases-11509.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11581.p1
Paternal
Simplex (quad-proband matched)
Not segregated
MIR4759,ADAMTS5
sanders_11_ASD_discovery_cases-11794.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12414.p1
Maternal
Simplex (trio)
NA
sanders_11_ASD_discovery_cases-12414.p1
Maternal
Simplex (trio)
NA
LTN1
sanders_11_ASD_discovery_cases-12761.p1
Maternal
Simplex (trio)
NA
sanders_11_ASD_discovery_cases-12796.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-13301.p1
Maternal
Simplex (quad-proband matched)
Not segregated
walker_13_ASD_discovery_cases-case2-1189-003
Unknown
Simplex
Unknown
wenger_16_ASD_discovery_cases-case41
Unknown
GRIK1
Controls
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
engchuan_15_ASD_discovery_controls-controlB359159_1007874355
Unknown
engchuan_15_ASD_discovery_controls-controlB649707_1007875249
Unknown
APP
engchuan_15_ASD_discovery_controls-controlB744177_1007854062
Unknown
engchuan_15_ASD_discovery_controls-controlHABC_902612_902612
Unknown
krumm_13_ASD_discovery_controls-control11581.s1
Paternal
Simplex
ADAMTS5
krumm_15_ASD_discovery_controls-control11110.s1
Illumina 1MDuo
Paternal
N6AMT1
krumm_15_ASD_discovery_controls-control11581.s1
Illumina 1M
Paternal
MIR4759,ADAMTS5
krumm_15_ASD_discovery_controls-control11600.s1
Illumina 1MDuo
Maternal
MIR155HG,MIR155,LINC00515,MRPL39,JAM2
levy_11_ASD_discovery_controls-11581.s1
Paternal
Simplex
NA
MIR4759,ADAMTS5
sanders_11_ASD_discovery_controls-11110.s1
Paternal
Simplex (quad)
NA
N6AMT1
sanders_11_ASD_discovery_controls-11205.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11404.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11509.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11541.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11581.s1
Paternal
Simplex (quad)
NA
MIR4759,ADAMTS5
sanders_11_ASD_discovery_controls-11794.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11977.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-13183.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-13301.s1
Maternal
Simplex (quad)
NA
No Animal Model Data Available