8q12.1CNV Type: Deletion-Duplication
Largest CNV size: 150023 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
Functional impact of global rare copy number variation in autism spectrum disorders.
Duplication
An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabili...
Deletion
Paternally inherited cis-regulatory structural variants are associated with autism.
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
Epileptic encephalopathies of the Landau-Kleffner and continuous spike and waves during slow-wave sleep types: genomic dissection makes the link wi...
Duplication
A discovery resource of rare copy number variations in individuals with autism spectrum disorder.
Deletion
Dysfunction of SHANK2 and CHRNA7 in a patient with intellectual disability and language impairment supports genetic epistasis of the two loci.
Duplication
Transmission disequilibrium of small CNVs in simplex autism.
Duplication
Performance of case-control rare copy number variation annotation in classification of autism.
Duplication
The Role of mGluR Copy Number Variation in Genetic and Environmental Forms of Syndromic Autism Spectrum Disorder.
Duplication
Genome-wide analysis of copy number variations identifies PARK2 as a candidate gene for autism spectrum disorder.
Deletion-Duplication
Detection of clinically relevant copy-number variants by exome sequencing in a large cohort of genetic disorders.
Deletion
Cases
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
brandler_18_ASD_discovery_cases
Affected individuals from the Relating Genes with Adolescent and Child Health (REACH) cohort (362 cases from 311 families; 54 multiplex, 243 simplex) and the Simons Simplex 1 (SSC1) cohort (518 cases from simplex quad families)
880
REACH cohort: 285 cases diagnosed with ASD, 43 cases diagnosed with PDD-NOS, 10 cases diagnosed with ADHD, and 24 cases presenting with speech delay, epilepsy, anxiety, or other related developmental disorders that were classified as cases for bioinformatics analyses; Simons Simplex Collection 1 (SSC1) cohort: all 518 cases were diagnosed with ASD
N/A
N/A
43
1
0
1
chilian_13_DD/ID_discovery_cases
Patient, born to healthy non-consanguineous parents with no family history of ID, referred at 18 months of age for marked psychomotor and developmental delay; patient carries balanced de novo triple translocation t(11;17;19)(q13.3;q25.1;q13.42)dn with breakpoint disrupting the SHANK2 gene.
1
Severe DD/ID, language impairment, behavioral abnormalities
5 yrs.
Male
53388
0
1
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
155542
0
18
18
han_22_ASD/DD/ID_discovery_cases
Probands with ASD or unexplained developmental delay/intellectual disability with or without other congenital anomalies from Shandong province in Northern China who were referred for genetic services from January 2014 to December 2018.
410
151 cases diagnosed with ASD (DSM-5 criteria, ADOS-2, confirmed by CARS score > 30) and 259 patients diagnosed with developmental delay/intellectual disability (DSM-5 criteria, confirmed by Gesell developmental scale DQ score < 75 and Wechsler Intelligence Scale for Children-Revised with IQ<70).
Mean age, 2 yrs. 11 mos.
68.78% Male
730715
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
3413339
1
0
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
2027
0
4
4
lesca_12_EP_discovery_cases
Epilepsy patients collected at four French hospitals from 2009: Strasbourg Univ. Hospital (n=40), Lyons Univ. Hospital (n=18), Henri Gastaut Hospital (St. Paul Centre) in Marseille (n=2), and Reims American Memorial Hospital (n=1).
61
Epilepsy/epileptic encephalopathy. 41 patients with continuous spike and wave during slow-wave sleep syndrome (CSWSS), 20 patients with Landau-Kleffner syndrome (LKS). 12 (out of 57) patients displayed autistic features; ADHD features (hyperactivity, attention deficit and/or aggressiveness) reported in 41/58 patients,
Mean age of diagnosis: 5.6 yrs. (range, 1-14 yrs.)
61% Male
46000
0
1
1
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
1429873
1
0
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
43197
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
16251
2
0
2
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
150023
6
10
16
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
266712
0
1
1
yin_16_ASD_discovery_cases
Discovery cohort of ASD cases recruited from the Department of Psychiatry of National Taiwan University Hospital (NTUH), Chang Gung Memorial Hospital (CGMH), Taoyuan, and Taoyuan Mental Hospital (TMH), Taiwan.
335
Cases diagnosed with autistic disorder according to DSM-IV and confirmed by using the Chinese version of ADI-R. Cases' autistic behaviors assessed by Social Responsiveness Scale (SRS), and cognitive functions assessed by the Weschler Intelligence Scale for Children-Third Edition (WISC-III) and the Wisconsin Card Sorting Test (WCST).
Mean, 9.39 4.04 yrs.
89.3% Male
55367
1
1
2
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
155542
1
25
26
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
2027
0
5
5
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.
15798
1
0
1
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)
174973
0
2
2
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)
16251
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.
155146
1
9
10
yin_16_ASD_discovery_controls
Individuals from the Han Chinese Cell and Genome Bank (HCCGB) in Taiwan
1093
Controls
Mean, 68.07 10.12 yrs.
48.0% Male
55367
0
0
0
Cases
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
brandler_18_ASD_discovery_cases
N/A
WGS
Illumina HiSeq X10 or HiSeq 2500
ForestSV, Lumpy, Manta, Mobster, SV2
PCR, array SNP
chilian_13_DD/ID_discovery_cases
Germany
aCGH
Agilent Human Genome CGH Microarray 244A
None
engchuan_15_ASD_discovery_cases
Caucasian
Solid phase hybridization
Illumina 1M
None
han_22_ASD/DD/ID_discovery_cases
Han Chinese
Array SNP
Affymetrix SNP 6.0, Affymetrix CytoScan HD
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
lesca_12_EP_discovery_cases
France
aCGH
Agilent SurePrint G3 Human CGH Microarray 4x180K
ADM-2
Agilent Feature Extraction v10.7.3.1, Agilent Genomic WORKBENCH v5.0.14
None
pfundt_16_nonNDD_discovery_cases
N/A
WES
Solid5500xl, IlluminaHiSeq2000
CoNIFER
No
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
wenger_16_ASD_discovery_cases
N/A
Solid phase hybridization
Illumina HumanHap 550 or Illumina Human610-Quad v1.0
PennCNV
None
yin_16_ASD_discovery_cases
Han Chinese
Array SNP
Affymetrix 6.0
Affymetrix Genotyping Console v.4.1
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
Solid phase hybridization (Illumina 1M), aCGH (Agilent SurePrint G3 4x180K), or confirmed by manual inspection
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
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
yin_16_ASD_discovery_controls
Han Chinese
Array SNP
Affymetrix 6.0
Affymetrix Genotyping Console v.4.1
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_discovery_cases-caseSSC12080
N/A
M
ASD
Case from SSC cohort
56034376
56034419
44
GRCh38
Deletion
Yes
chilian_13_DD/ID_discovery_cases-case1
5 yrs.
M
Developmental delay/intellectual disability
Patient referred at 18 months for marked psychomotor and developmental delay. Karyotype: 46, XY, t(11;17;19)(q13.3;q25.1;q13.42)dn; translocation with breakpoints within the SHANK2 and UBE2O genes. Birth/neonatal history: duing pregnancy mother had cervical cancer (treated after birth), born at 39 weeks gestation by C-section; birth weight -0.23 SD, length -0.83 SD, OFC +0.7 SD; uneventful perinatal adaption; ventricular septal defect diagnosed at 2 months. Developmental milestones: psychomotor retardation noted at 1.5 years; sat independently at 8 months, began to walk with support at 2.5 years, independent walking at 3.5 years, not toilet trained at 5 years of age. Language and communication evaluation: no spoken language. Motor and musculoskeletal evaluation: ataxia, able to stand with support. Behavioral/psychiatric evaluation: anxious, exhibited habit disorder with stereotypic movements, decreased sensitivity to pain, often caused self-injury. EEG: increased irregular activity. Brain imaging: normal by ultrasound. Visual and auditory evaluation: normal. Sleep disturbances: serious sleeping disturbances. Other features: elevated alkaline phosphatase, lactate dehydrogenase, and serum magnesium levels. Dysmorphic features: coarse face with facial dysmorphism, broad thorax, clinodactyly of 2nd and 3rd toes. Growth parameters: weight of 19.3 kg (+0.1 SD), length of 105 cm (-1.0 SD) and OFC of 51 cm (0 SD) at 5 years of age. Family history: second child of healthy non-consanguineous parents; no family history of miscarriages, ID, or alcohol exposure in utero.
Severe DD/ID. Evaluation at age of 1.5 years: Brunet-Lezine development test showed delay in movements, coordination, communication, and social skills; psychomotor development corresponded to 9 months, development quotient of 48; Bayley Scales of Infant Development gave Developmental Index score of 84.
56140253
56193641
53389
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case1171_5
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
56142495
56185691
43197
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case13086_1013
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
56142495
56184282
41788
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case13149_1663
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
56142495
56184282
41788
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case13223_2463
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
56142495
56185691
43197
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case18174_301
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
56142495
56184282
41788
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case2305_1
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
56142495
56184282
41788
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case3511_3
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
56142495
56185691
43197
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case3571_4
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
56142495
56185691
43197
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case3581_3
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
56142495
56184282
41788
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case4274_1
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
56153057
56185691
32635
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case4472_1
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
56153057
56184282
31226
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case5003_4
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
56142495
56185691
43197
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case5280_3
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
56155416
56185691
30276
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case6413_4
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
57489320
57644862
155543
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case8454_201
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
56142495
56185691
43197
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case8616_201
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
56142495
56185691
43197
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case8619_201
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
56142495
56184282
41788
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case8647_201
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
56142495
56185691
43197
GRCh38
Duplication
No
han_22_ASD/DD/ID_discovery_cases-case16D0723
8 mos. 22 days
M
Developmental delay
59809736
60540450
730715
GRCh38
Duplication
No
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002680
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
55423413
58836753
3413341
GRCh38
Deletion
Yes
krumm_13_ASD_discovery_cases-case12224.p1
N/A
M
ASD
ASD proband from SSC quad family 12224. SRS score of 89.
Full-scale IQ (FSIQ) score of 80.
56166242
56168269
2028
GRCh38
Duplication
No (not tested)
krumm_13_ASD_discovery_cases-case12297.p1
N/A
M
ASD
ASD proband from SSC quad family 12297. SRS score of 89.
Full-scale IQ (FSIQ) score of 97.
56166242
56168269
2028
GRCh38
Duplication
No (not tested)
krumm_13_ASD_discovery_cases-case13293.p1
N/A
M
ASD
ASD proband from SSC quad family 13293. SRS score of 90.
Full-scale IQ (FSIQ) score of 83.
56166242
56168269
2028
GRCh38
Duplication
No (not tested)
krumm_13_ASD_discovery_cases-case13599.p1
N/A
M
ASD
ASD proband from SSC quad family 13599. SRS score of 79.
Full-scale IQ (FSIQ) score of 65.
56166242
56168269
2028
GRCh38
Duplication
No (not tested)
lesca_12_EP_discovery_cases-caseDY29
NA
F
Epilepsy
Phenotype: LKS-wiESES. Seizure Characteristics: FS, PS. Autistic features: No. ADHD features: Yes. Other features: None.
Initial cognitive development: Delayed. Cognitive regression: Yes. Verbal IQ 53, performance IQ 45 (at 5.25 years of age).
56140253
56185774
45522
GRCh38
Duplication
No
pfundt_16_nonNDD_discovery_cases-case139
N/A
N/A
Non-NDD
Disease cohort: movement disorder. Description: CA8 deletion
58851523
60281396
1429874
GRCh38
Deletion
No
pinto_10_ASD_discovery_cases-case5003_4
NA
M
ASD
NA
NA
56142495
56185691
43197
GRCh38
Duplication
Yes
prasad_12_ASD_discovery_cases-case115533
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
61675943
61683150
7208
Unknown
Deletion
No
prasad_12_ASD_discovery_cases-case58472L
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
60547439
60563689
16251
Unknown
Deletion
No
sanders_11_ASD_discovery_cases-11012.p1
8.8
M
Autism
NA
Full-scale IQ, 79; non-verbal IQ, 80; verbal IQ, 83
56142495
56184282
41788
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11108.p1
8.1
M
Autism
NA
Full-scale IQ, 104; non-verbal IQ, 114; verbal IQ, 85
54675578
54758923
83346
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11133.p1
17
M
Autism
NA
Full-scale IQ, 128; non-verbal IQ, 110; verbal IQ 140
56142495
56185691
43197
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11158.p1
10.7
M
Autism
NA
Full-scale IQ, 55; non-verbal IQ, 71; verbal IQ, 39
56074895
56101698
26804
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11193.p1
7.5
M
Autism
NA
Full-scale IQ, 125; non-verbal IQ, 138; verbal IQ, 91
57787959
57882683
94725
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11256.p1
11.3
M
Autism
NA
Full-scale IQ, 102; non-verbal IQ, 127; verbal IQ, 98
56142495
56184282
41788
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11331.p1
5.5
M
Autism
NA
Full-scale IQ, 89; non-verbal IQ, 97; verbal IQ 81
56142495
56184282
41788
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11370.p1
14.6
M
Autism
NA
Full-scale IQ, 100; non-verbal IQ, 110; verbal IQ 102
56142495
56184282
41788
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11920.p1
10.8
M
Aspergers
NA
Full-scale IQ, 96; non-verbal IQ, 91; verbal IQ, 106
60084796
60093291
8496
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12102.p1
5.1
M
Autism
NA
Full-scale IQ, 45; non-verbal IQ, 52; verbal IQ, 38
56074895
56101408
26514
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12224.p1
4.3
M
Autism
NA
Full-scale IQ, 80; non-verbal IQ, 85; verbal IQ, 78
56142495
56185691
43197
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12297.p1
15
M
Autism
NA
Full-scale IQ, 97; non-verbal IQ, 102; verbal IQ, 89
56142495
56184282
41788
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12334.p1
8.9
M
Autism
NA
Full-scale IQ, 84; non-verbal IQ, 92; verbal IQ, 75
56793822
56803180
9359
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
55592852
55742875
150024
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12478.p1
4.8
M
Autism
NA
Full-scale IQ, 69; non-verbal IQ, 74; verbal IQ, 68
60084796
60093291
8496
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12879.p1
10.3
F
Autism
NA
Full-scale IQ, 34; non-verbal IQ, 35; verbal IQ, 33
56142495
56173646
31152
GRCh38
Duplication
No
wenger_16_ASD_discovery_cases-case32
N/A
N/A
ASD
Prior clinical diagnosis of genetic syndrome: n/a
60051894
60318605
266712
GRCh38
Duplication
No
yin_16_ASD_discovery_cases-case319
N/A
N/A
ASD
Cases diagnosed with autistic disorder according to DSM-IV and confirmed by using the Chinese version of ADI-R.
56875510
56930876
55367
GRCh38
Deletion
No
yin_16_ASD_discovery_cases-case320
N/A
N/A
ASD
Cases diagnosed with autistic disorder according to DSM-IV and confirmed by using the Chinese version of ADI-R.
58434802
58480178
45377
GRCh38
Duplication
No
Controls
Patient ID
Author, Year
Age
Gender
Primary Diagnosis
Clinical Profile
Cognitive Profile
CNV Start
CNV End
CNV Size
Genome Build
Type Method
Validation
engchuan_15_ASD_discovery_controls-control110036014801_
N/A
N/A
Control
No previous psychiatric history
57489320
57644862
155543
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlB325256_1007852948
N/A
N/A
Control
No previous psychiatric history
56153057
56184282
31226
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlB351862_1007853886
N/A
N/A
Control
No previous psychiatric history
56153057
56185691
32635
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlB352015_1007874446
N/A
N/A
Control
No previous psychiatric history
56142495
56185691
43197
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlB438042_1007853841
N/A
N/A
Control
No previous psychiatric history
56142495
56185691
43197
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlB496758_1007853668
N/A
N/A
Control
No previous psychiatric history
56153057
56185691
32635
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlB562526_1007875203
N/A
N/A
Control
No previous psychiatric history
56153057
56185691
32635
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlB700071_1007874656
N/A
N/A
Control
No previous psychiatric history
56153057
56184282
31226
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlB774671_0067942570
N/A
N/A
Control
No previous psychiatric history
56153057
56184282
31226
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlB820039_1007854195
N/A
N/A
Control
No previous psychiatric history
56142495
56184282
41788
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlB848304_1007844833
N/A
N/A
Control
No previous psychiatric history
56153057
56183249
30193
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlB911786_1007854079
N/A
N/A
Control
No previous psychiatric history
56142495
56185691
43197
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlHABC_900060_900060
N/A
N/A
Control
No previous psychiatric history
55441912
55490825
48914
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlHABC_900125_900125
N/A
N/A
Control
No previous psychiatric history
56142495
56185691
43197
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlHABC_900173_900173
N/A
N/A
Control
No previous psychiatric history
56142495
56185691
43197
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlHABC_900365_900365
N/A
N/A
Control
No previous psychiatric history
56142495
56185691
43197
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlHABC_900988_900988
N/A
N/A
Control
No previous psychiatric history
56142495
56185691
43197
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlHABC_901056_901056
N/A
N/A
Control
No previous psychiatric history
56142495
56184282
41788
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlHABC_901092_901092
N/A
N/A
Control
No previous psychiatric history
56142495
56185691
43197
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlHABC_901140_901140
N/A
N/A
Control
No previous psychiatric history
56142495
56185691
43197
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlHABC_902560_902560
N/A
N/A
Control
No previous psychiatric history
56142495
56185691
43197
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlHABC_902626_902626
N/A
N/A
Control
No previous psychiatric history
56142495
56185691
43197
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlHABC_902773_902773
N/A
N/A
Control
No previous psychiatric history
56142495
56184282
41788
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlHABC_902781_902781
N/A
N/A
Control
No previous psychiatric history
57492517
57635100
142584
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlHABC_902883_902883
N/A
N/A
Control
No previous psychiatric history
56142495
56185691
43197
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlHABC_902887_902887
N/A
N/A
Control
No previous psychiatric history
56142495
56185691
43197
GRCh38
Duplication
No
krumm_13_ASD_discovery_controls-control11715.s1
N/A
F
Control
Unaffected sibling from SSC quad family 11715. SRS score of 40.
56166242
56168269
2028
GRCh38
Duplication
Yes
krumm_13_ASD_discovery_controls-control12224.s1
N/A
M
Control
Unaffected sibling from SSC quad family 12224. SRS score of 41.
56166242
56168269
2028
GRCh38
Duplication
No (not tested)
krumm_13_ASD_discovery_controls-control12297.s1
N/A
M
Control
Unaffected sibling from SSC quad family 12297. SRS score of 45.
56166242
56168269
2028
GRCh38
Duplication
No (not tested)
krumm_13_ASD_discovery_controls-control13293.s1
N/A
F
Control
Unaffected sibling from SSC quad family 13293. SRS score of 41.
56166242
56168269
2028
GRCh38
Duplication
No (not tested)
krumm_13_ASD_discovery_controls-control13599.s1
N/A
M
Control
Unaffected sibling from SSC quad family 13599. SRS score of 39.
56166242
56168269
2028
GRCh38
Duplication
No (not tested)
nord_11_ASD_discovery_controls-04C27935
Control
55896419
55912216
15798
Unknown
Deletion
poultney_13_ASD_discovery_controls-control04C29405A
N/A
M
Control
NIMH Control (NIMH ID 15805)
55824579
55999551
174973
GRCh38
Duplication
No
poultney_13_ASD_discovery_controls-control04C37491A
N/A
F
Control
NIMH Control (NIMH ID 33249)
56166241
56212911
46671
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11012.s1
6.7
F
Control (matched sibling)
NA
NA
56158777
56184282
25506
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11193.s1
4.8
F
Control (matched sibling)
NA
NA
57779452
57886509
107058
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11415.s1
13.6
M
Control (matched sibling)
NA
NA
56142495
56184282
41788
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11715.s1
6.6
F
Control (matched sibling)
NA
NA
56142495
56185691
43197
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-12115.s1
8.5
M
Control (matched sibling)
NA
NA
56142495
56183249
40755
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-12198.s1
11.3
M
Control (matched sibling)
NA
NA
56142495
56183249
40755
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-12297.s1
11.9
M
Control (matched sibling)
NA
NA
56142495
56184282
41788
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-12351.s1
15.3
F
Control (matched sibling)
NA
NA
54589619
54601199
11581
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12372.s1
13.5
F
Control (matched sibling)
NA
NA
55592852
55747998
155147
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-12722.s1
6.8
M
Control (matched sibling)
NA
NA
56142495
56184282
41788
GRCh38
Duplication
No
Cases
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
brandler_18_ASD_discovery_cases-caseSSC12080
PCR
Maternal
chilian_13_DD/ID_discovery_cases-case1
Unknown
Possibly simplex (no info on 1st child)
Unknown
PLAG1
engchuan_15_ASD_discovery_cases-case1171_5
Unknown
PLAG1
engchuan_15_ASD_discovery_cases-case13086_1013
Unknown
PLAG1
engchuan_15_ASD_discovery_cases-case13149_1663
Unknown
PLAG1
engchuan_15_ASD_discovery_cases-case13223_2463
Unknown
PLAG1
engchuan_15_ASD_discovery_cases-case18174_301
Unknown
PLAG1
engchuan_15_ASD_discovery_cases-case2305_1
Unknown
PLAG1
engchuan_15_ASD_discovery_cases-case3511_3
Unknown
PLAG1
engchuan_15_ASD_discovery_cases-case3571_4
Unknown
PLAG1
engchuan_15_ASD_discovery_cases-case3581_3
Unknown
PLAG1
engchuan_15_ASD_discovery_cases-case4274_1
Unknown
PLAG1
engchuan_15_ASD_discovery_cases-case4472_1
Unknown
PLAG1
engchuan_15_ASD_discovery_cases-case5003_4
Unknown
PLAG1
engchuan_15_ASD_discovery_cases-case5280_3
Unknown
PLAG1
engchuan_15_ASD_discovery_cases-case6413_4
Unknown
engchuan_15_ASD_discovery_cases-case8454_201
Unknown
PLAG1
engchuan_15_ASD_discovery_cases-case8616_201
Unknown
PLAG1
engchuan_15_ASD_discovery_cases-case8619_201
Unknown
PLAG1
engchuan_15_ASD_discovery_cases-case8647_201
Unknown
PLAG1
han_22_ASD/DD/ID_discovery_cases-case16D0723
Unknown
CA8,PDCL3P1,LINC01301,RAB2A,SLC2A13P1
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002680
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Paternal
Unknown
Unknown
SBF1P1,RNA5SP265,SNORA1B,RN7SL798P,RN7SL323P,RPS20,SNORD54,CERNA3,NPM1P21,MOS,SEPT10P1,RPL37P6,RNU6-13P,RNA5SP266,LINC00588,RNU6-596P,RPL30P10,RPL26P26,PPIAP85,RNU4-50P,TGS1,PLAG1,CHCHD7,SDR16C5,SDR16C6P,PENK,LINC00968,IMPAD1,UBXN2B,CYP7A1,SDCBP,XKR4,TMEM68,LYN,LINC01606,LINC01602,FAM110B,NSMAF,TOX
krumm_13_ASD_discovery_cases-case12224.p1
Maternal
Simplex
Not segregated
PLAG1
krumm_13_ASD_discovery_cases-case12297.p1
Paternal
Simplex
Not segregated
PLAG1
krumm_13_ASD_discovery_cases-case13293.p1
Maternal
Simplex
Not segregated
PLAG1
krumm_13_ASD_discovery_cases-case13599.p1
Paternal
Simplex
Not segregated
PLAG1
lesca_12_EP_discovery_cases-caseDY29
Unknown
Unknown
Unknown
PLAG1
pfundt_16_nonNDD_discovery_cases-case139
RNA5SP267,SLC2A13P1,CA8,TOX
pinto_10_ASD_discovery_cases-case5003_4
Agilent1M
paternal
NA
NA
PLAG1
prasad_12_ASD_discovery_cases-case115533
Unknown
Unknown
Unknown
RAB2A
prasad_12_ASD_discovery_cases-case58472L
Unknown
Unknown
Unknown
0 genes
sanders_11_ASD_discovery_cases-11012.p1
Maternal
Simplex (quad-proband matched)
Not segregated
PLAG1
sanders_11_ASD_discovery_cases-11108.p1
Paternal
Simplex (quad-proband matched)
Segregated
RP1
sanders_11_ASD_discovery_cases-11133.p1
Paternal
Simplex (trio)
NA
PLAG1
sanders_11_ASD_discovery_cases-11158.p1
Unknown
Simplex (quad-proband matched)
Segregated
CERNA3,NPM1P21
sanders_11_ASD_discovery_cases-11193.p1
Maternal
Simplex (quad-proband matched)
Not segregated
LINC01602
sanders_11_ASD_discovery_cases-11256.p1
Paternal
Simplex (quad-proband matched)
Segregated
PLAG1
sanders_11_ASD_discovery_cases-11331.p1
Paternal
Simplex (trio)
NA
PLAG1
sanders_11_ASD_discovery_cases-11370.p1
Paternal
Simplex (trio)
NA
PLAG1
sanders_11_ASD_discovery_cases-11920.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12102.p1
Paternal
Simplex (trio)
NA
CERNA3,NPM1P21
sanders_11_ASD_discovery_cases-12224.p1
Both parents
Simplex (quad-proband matched)
Segregated
PLAG1
sanders_11_ASD_discovery_cases-12297.p1
Paternal
Simplex (quad-proband matched)
Not segregated
PLAG1
sanders_11_ASD_discovery_cases-12334.p1
Maternal
Simplex (quad-proband matched)
Segregated
sanders_11_ASD_discovery_cases-12372.p1
Maternal
Simplex (quad-proband matched)
Not segregated
TMEM68
sanders_11_ASD_discovery_cases-12478.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12879.p1
Maternal
Simplex (quad-proband matched)
Not segregated
PLAG1
wenger_16_ASD_discovery_cases-case32
Unknown
SLC2A13P1,CA8
yin_16_ASD_discovery_cases-case319
Unknown
Unknown
Unknown
RNU6-13P
yin_16_ASD_discovery_cases-case320
Unknown
Unknown
Unknown
UBXN2B
Controls
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
engchuan_15_ASD_discovery_controls-control110036014801_
Unknown
engchuan_15_ASD_discovery_controls-controlB325256_1007852948
Unknown
PLAG1
engchuan_15_ASD_discovery_controls-controlB351862_1007853886
Unknown
PLAG1
engchuan_15_ASD_discovery_controls-controlB352015_1007874446
Unknown
PLAG1
engchuan_15_ASD_discovery_controls-controlB438042_1007853841
Unknown
PLAG1
engchuan_15_ASD_discovery_controls-controlB496758_1007853668
Unknown
PLAG1
engchuan_15_ASD_discovery_controls-controlB562526_1007875203
Unknown
PLAG1
engchuan_15_ASD_discovery_controls-controlB700071_1007874656
Unknown
PLAG1
engchuan_15_ASD_discovery_controls-controlB774671_0067942570
Unknown
PLAG1
engchuan_15_ASD_discovery_controls-controlB820039_1007854195
Unknown
PLAG1
engchuan_15_ASD_discovery_controls-controlB848304_1007844833
Unknown
PLAG1
engchuan_15_ASD_discovery_controls-controlB911786_1007854079
Unknown
PLAG1
engchuan_15_ASD_discovery_controls-controlHABC_900060_900060
Unknown
SBF1P1,XKR4
engchuan_15_ASD_discovery_controls-controlHABC_900125_900125
Unknown
PLAG1
engchuan_15_ASD_discovery_controls-controlHABC_900173_900173
Unknown
PLAG1
engchuan_15_ASD_discovery_controls-controlHABC_900365_900365
Unknown
PLAG1
engchuan_15_ASD_discovery_controls-controlHABC_900988_900988
Unknown
PLAG1
engchuan_15_ASD_discovery_controls-controlHABC_901056_901056
Unknown
PLAG1
engchuan_15_ASD_discovery_controls-controlHABC_901092_901092
Unknown
PLAG1
engchuan_15_ASD_discovery_controls-controlHABC_901140_901140
Unknown
PLAG1
engchuan_15_ASD_discovery_controls-controlHABC_902560_902560
Unknown
PLAG1
engchuan_15_ASD_discovery_controls-controlHABC_902626_902626
Unknown
PLAG1
engchuan_15_ASD_discovery_controls-controlHABC_902773_902773
Unknown
PLAG1
engchuan_15_ASD_discovery_controls-controlHABC_902781_902781
Unknown
engchuan_15_ASD_discovery_controls-controlHABC_902883_902883
Unknown
PLAG1
engchuan_15_ASD_discovery_controls-controlHABC_902887_902887
Unknown
PLAG1
krumm_13_ASD_discovery_controls-control11715.s1
Solid phase hybridization (Illumina 1M) and aCGH (Agilent SurePrint G3 4x180K)
Maternal
Simplex
PLAG1
krumm_13_ASD_discovery_controls-control12224.s1
Maternal
Simplex
PLAG1
krumm_13_ASD_discovery_controls-control12297.s1
Paternal
Simplex
PLAG1
krumm_13_ASD_discovery_controls-control13293.s1
Maternal
Simplex
PLAG1
krumm_13_ASD_discovery_controls-control13599.s1
Paternal
Simplex
PLAG1
nord_11_ASD_discovery_controls-04C27935
0 genes
poultney_13_ASD_discovery_controls-control04C29405A
Unknown
SNORA1B,RN7SL798P,TGS1,LYN
poultney_13_ASD_discovery_controls-control04C37491A
Unknown
PLAG1,CHCHD7
sanders_11_ASD_discovery_controls-11012.s1
Maternal
Simplex (quad)
NA
PLAG1
sanders_11_ASD_discovery_controls-11193.s1
Maternal
Simplex (quad)
NA
LINC01602
sanders_11_ASD_discovery_controls-11415.s1
Maternal
Simplex (quad)
NA
PLAG1
sanders_11_ASD_discovery_controls-11715.s1
Maternal
Simplex (quad)
NA
PLAG1
sanders_11_ASD_discovery_controls-12115.s1
Maternal
Simplex (quad)
NA
PLAG1
sanders_11_ASD_discovery_controls-12198.s1
Paternal
Simplex (quad)
NA
PLAG1
sanders_11_ASD_discovery_controls-12297.s1
Paternal
Simplex (quad)
NA
PLAG1
sanders_11_ASD_discovery_controls-12351.s1
Paternal
Simplex (quad)
NA
RP1
sanders_11_ASD_discovery_controls-12372.s1
Maternal
Simplex (quad)
NA
RNA5SP265,TMEM68
sanders_11_ASD_discovery_controls-12722.s1
Paternal
Simplex (quad)
NA
PLAG1
No Animal Model Data Available