1q42.13CNV Type: Deletion-Duplication
Largest CNV size: 78515 bp
Statistics Box:
Number of Reports: 15
Number of Reports: 15
Summary Information
Summary statement in development
Additional Locus Information
References
Major Reports
Title
Author, Year
Report Class
CNV Type
An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabili...
Deletion
Minor Reports
Title
Author, Year
Report Class
CNV Type
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
Relative burden of large CNVs on a range of neurodevelopmental phenotypes.
Duplication
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
Global increases in both common and rare copy number load associated with autism.
Duplication
Identification of small exonic CNV from whole-exome sequence data and application to autism spectrum disorder.
Duplication
Genome-wide analysis of copy number variations identifies PARK2 as a candidate gene for autism spectrum disorder.
Duplication
Copy number variation analysis of patients with intellectual disability from North-West Spain.
Duplication
Paternally inherited cis-regulatory structural variants are associated with autism.
Deletion
Exome sequencing of 457 autism families recruited online provides evidence for autism risk genes
Duplication
Genomic analysis of 116 autism families strengthens known risk genes and highlights promising candidates
Duplication
Optical genome mapping unveils hidden structural variants in neurodevelopmental disorders
Duplication
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
84640
1
0
1
feliciano_19_ASD_discovery_cases
ASD probands from 457 families (418 simplex, 39 multiplex) from the SPARK cohort
465
All cases diagnosed with ASD
Range of age at enrollment, 1.544.6 years
80.86% Male
29272
0
2
2
girirajan_11_ASD_discovery_cases
ASD cases with sporadic autism from the Simons Simplex Collection (SSC)
336
Diagnosis of ASD based on meeting criteria on ADOS, ADI-R, and expert clinical judgment. 246 cases with no intellectual disability, 90 cases with intellectual disability. Exclusion criteria: significant hearing, vision, or motor problems; significant birth complications; a diagnosis of ASD-related disorders, such as Fragile X; or having a relative (up to 3rd degree) with ASD or sibling showing ASD-related symptoms.
404229
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
399000
0
1
1
girirajan_13b_ASD_discovery_cases
Children with autism ascertained from the Childhood Autism Risks from Genetics and Environment (CHARGE) study conducted through the Medical Investigation of Neurodevelopmental Disorders (MIND) Institute at UC-Davis after passing QC criteria (274 initial cases)
243
Diagnosis of autism confirmed by ADOS and ADI-R. Exclusion criteria: children with developmental delay but lacking symptoms and autism, as well as children with ASD as defined by the CHARGE protocol
N/A
N/A
370122
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
226669
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
25073
1
0
1
nord_11_ASD_discovery_cases
Youth with ASD (as part of mother-father-child trios)
41
ASD
85.4% Male
9999
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)
49089
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
110318
1
1
2
quintela_17_DD/ID_discovery_cases
Galician (NW Spain) patients recruited from the Complexo Hospitalario Universitario de Santiago de Compostela and referred to the Fundacion Publica Galega de Medicina Xenomica for genetic study
573
All participants had a clinical diagnosis of idiopathic intellectual disability (ID) or global developmental delay (DD) with or without another medical condition [e.g. autism spectrum disorder (ASD), attention deficit hyperactivity disorder (ADHD), epilepsy, dysmorphic features, and/or congenital anomalies]
Range, 3 months-18 years
60.38% Male
227831
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
78515
3
10
13
schrauwen_24_ASD/ADHD/DD/ID_discovery_cases
Individuals from 47 families on whom optical genome mapping (OGM) was performed using ultra-high molecular weight DNA
51
All individuals in this cohort presented with mild to profound syndromic and non-syndromic intellectual disability
3059
0
2
2
viggiano_24_ASD_discovery_cases
ASD probands from 116 families (89 simplex, 25 multiplex, and two monozygotic twin pairs) recruited by UOSI Disturbi dello Spettro Autistico (IRCCS Istituto delle Scienze Neurologiche, Bologna, Italy)
144
Cases clinically diagnosed with ASD according to DSM-5 criteria and assessed using ADOS-2 and CARS-2.
Age of diagnosis, 40.1 +/- 22.4 mos. (range, 17-181 mos.)
76.39% Male
93310
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
53063
0
1
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
155611
0
2
2
girirajan_11_ASD_discovery_controls
Control individuals ascertained by NIMH Genetics Initiative. DNA samples from these individuals were obtained from the Rutgers Univ. Cell & DNA Repository.
337
Control. Individuals screened specifically for eight mental health disorders.
404229
0
0
0
girirajan_13b_ASD_discovery_controls
Controls ascertained from the Childhood Autism Risks from Genetics and Environment (CHARGE) study conducted through the Medical Investigation of Neurodevelopmental Disorders (MIND) Institute at UC-Davis after passing QC criteria (242 initial controls)
223
Control
N/A
N/A
0
0
0
0
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
162389
1
0
1
krumm_13_ASD_discovery_controls
Unaffected siblings of ASD probands from quad families ascertained as part of the Simons Simplex Collection (SSC); CNVs detected using data from four previously published exome sequencing studies (O'Roak et al., 2011; Iossifov et al., 2012; O'Roak et al., 2012; Sanders et al., 2012)
411
Control (unaffected siblings of ASD probands). Social Responsiveness Scale (SRS) used as a quantitative measure of social deficits
N/A
46.47% Male
0
0
0
0
krumm_15_ASD_discovery_controls
Unaffected siblings from quad families from the Simons Simplex Collection
1786
Control
N/A
N/A
6068
0
1
1
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)
49089
2
2
4
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)
110318
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.
34709
1
12
13
stamouli_18_ASD/NDD_discovery_controls
Unaffected individuals from 100 twin pairs (69 monozygotic, 31 dizygotic), corresponding to 97 families, that were enriched for neurodevelopmental disorders from the Roots of Autism and ADHD Study in Sweden (RATSS)
100 twin pairs
Control (unaffected) individual following evaluation using standard diagnostic tools [a psychosocial and anamnestic interview, the Autism Diagnosis Interview-Revised (ADI-R), the Autism Diagnostic Observation Schedule Second Edition (ADOS-2), the Kiddie Schedule for Affective Disorders and Schizophrenia (K-SADS), or the Diagnostic Interview for ADHD in Adults (DIVA)]; Wechsler Intelligence Scale for Children or Adults, Fourth Edition (WISC-IV) or the Leiter-revised scales in combination with the Peabody Picture Vocabulary Test, Third Edition, and the parent-based Adaptive Behavior Assessment Scale, 2nd Edition (ABAS-2) were also used to evaluate adaptive, cognitive, and verbal abilities and
N/A
N/A
72244
0
1
1
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
53063
0
0
0
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
feliciano_19_ASD_discovery_cases
N/A
WES
Illumina HumanCoreExome 550K
CoNIFER, XHMM
None
girirajan_11_ASD_discovery_cases
aCGH
Custom microarray targeting 107 genomic hotspot regions (Roche NimbleGen Hotspot v1.0 array; 12 x 135K)
HMM
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
girirajan_13b_ASD_discovery_cases
133 European, 57 Hispanic, 27 Mixed Race, 20 Asian, 6 African-American
aCGH
Roche NimbleGen custom targeted hotspot array comprised of 135,000 probes with higher density probe coverage in genomic hotspots (regions flanked by segmental duplications)
DNA Copy Number v1.6
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
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
quintela_17_DD/ID_discovery_cases
North West Spain
Array SNP
Affymetrix Cytogenetics Whole-Genome 2M SNP array, Affymetrix CytoScan HD
Affymetrix ChAS v.1.2.2
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
schrauwen_24_ASD/ADHD/DD/ID_discovery_cases
USA/Finland
Optical genome mapping
Saphyr (Bionano Genomics)
Bionano Solve v.3.7.
viggiano_24_ASD_discovery_cases
Italy
Array SNP, WGS
Illumina Infinium PsychArray
PennCNV, QuantiSNP, CNVPartition
Canvas
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
girirajan_11_ASD_discovery_controls
aCGH
Custom microarray targeting 107 genomic hotspot regions (Roche NimbleGen Hotspot v1.0 array; 12 x 135K)
HMM
girirajan_13b_ASD_discovery_controls
116 European, 70 Hispanic, 27 Mixed Race, 7 Asian, 3 African-American
aCGH
Roche NimbleGen custom targeted hotspot array comprised of 135,000 probes with higher density probe coverage in genomic hotspots (regions flanked by segmental duplications)
DNA Copy Number v1.6
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
Solid phase hybridization (Illumina 1M, 1 M Duo, or Omni 2.5)
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
stamouli_18_ASD/NDD_discovery_controls
Swedish
Solid phase hybridization
Illumina Infinium PsychArray-24 v1.1
PennCNV, QuantiSNP, iPattern, iPsychCNV
None
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_replication_cases-caseSSC05432
N/A
M
ASD
Case from SSC_phase2 cohort
230123017
230207657
84641
GRCh38
Deletion
No
feliciano_19_ASD_discovery_cases-caseSP0001116
N/A
M
ASD
Family history: both parents negative for ASD; no mental health diagnoses reported for the mother (father unknown).
229431499
229460770
29272
GRCh38
Duplication
No
feliciano_19_ASD_discovery_cases-caseSP0001151
N/A
M
ASD
Family history: both parents negative for ASD; no mental health diagnoses reported for the mother (father unknown).
229431499
229460770
29272
GRCh38
Duplication
No
girirajan_11_ASD_discovery_cases-Si99
10
M
Autism
ADOS score: 4. Vineland composite score: 94.
No mental retardation/intellectual disability. Full-scale IQ, 104; Verbal IQ, 100; Non-verbal IQ, 107.
228122764
228526993
404230
GRCh38
Duplication
No
girirajan_13a_ASD_discovery_cases-11141.p1
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
228145676
228545676
400001
GRCh38
Duplication
No
girirajan_13b_ASD_discovery_cases-9405102860
N/A
N/A
Autism
Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Caucasian
N/A
228156871
228526993
370123
GRCh38
Duplication
No
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002735
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
229182714
229409383
226670
GRCh38
Deletion
Yes
krumm_13_ASD_discovery_cases-case12403.p1
N/A
M
ASD
ASD proband from SSC quad family 12403. SRS score of 90.
Full-scale IQ (FSIQ) score of 104.
230178217
230203290
25074
GRCh38
Deletion
No (not tested)
nord_11_ASD_discovery_cases-301-1
ASD
226511805
226521803
9999
Unknown
Deletion
No
poultney_13_ASD_discovery_cases-case05HI3571A
N/A
M
ASD
ASD case from AGRE (AGRE ID AU1272302; NDAR ID NDAR_INVPG937HCT)
228224459
228273547
49089
GRCh38
Duplication
No
prasad_12_ASD_discovery_cases-case102350
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
226375889
226386088
10200
Unknown
Deletion
No
prasad_12_ASD_discovery_cases-case117463L
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
226672422
226782739
110318
Unknown
Duplication
No
quintela_17_DD/ID_discovery_cases-caseID_218
12 yrs.
M
ASD and intellectual disability
ASD
Mild intellectual disability
227372276
227600106
227831
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11011.p1
8.3
M
Autism
NA
Full-scale IQ, 78; non-verbal IQ, 88; verbal IQ, 69
227522680
227541334
18655
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11201.p1
8.3
M
Autism
NA
Full-scale IQ, 62; non-verbal IQ, 78; verbal IQ, 44
227508117
227541334
33218
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11321.p1
17.7
M
Autism
NA
Full-scale IQ, 12; non-verbal IQ, 17; verbal IQ, 7
227522680
227539884
17205
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11452.p1
8.5
M
Autism
NA
Full-scale IQ, 80; non-verbal IQ, 80; verbal IQ, 85
227522680
227541334
18655
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11512.p1
5.7
M
Autism
NA
Full-scale IQ, 33; non-verbal IQ, 43; verbal IQ, 22
228067052
228074200
7149
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11592.p1
10.1
M
Autism
NA
Full-scale IQ, 115; non-verbal IQ, 109; verbal IQ, 122
227522680
227541334
18655
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11620.p1
16.5
M
ASD
NA
Full-scale IQ, 102; non-verbal IQ, 119; verbal IQ, 110
227522680
227539884
17205
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11665.p1
9.9
M
Autism
NA
Full-scale IQ, 72; non-verbal IQ, 79; verbal IQ, 65
227522680
227541334
18655
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11677.p1
7.9
M
Autism
NA
Full-scale IQ, 101; non-verbal IQ, 100; verbal IQ, 103
227522680
227539884
17205
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11935.p1
5.3
M
Autism
NA
Full-scale IQ, 83; non-verbal IQ, 90; verbal IQ, 77
228276547
228287116
10570
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11948.p1
9.5
F
Autism
NA
Full-scale IQ, 52; non-verbal IQ, 62; verbal IQ, 46
227522680
227539884
17205
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12158.p1
5.7
M
Autism
NA
Full-scale IQ, 86; non-verbal IQ, 81; verbal IQ, 100
227522680
227557389
34710
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12403.p1
11.9
M
Autism
NA
Full-scale IQ, 104; non-verbal IQ, 102; verbal IQ, 108
230128097
230206613
78517
GRCh38
Deletion
No
schrauwen_24_ASD/ADHD/DD/ID_discovery_cases-caseFIN83-3
50 yrs.
F
Developmental delay and intellectual disability
Developmental milestones: developmental delay. Behavioral/psychiatric evaluation: stubbornness, aggressive behavior, psychotic behavior. Additional medical history: congenital horizontal nystagmus and strabismus, enuresis. Family history: notable for a brother who died of lymphoma at 35 years of age.
Mild intellectual disability
229464712
229467770
3059
GRCh38
Homozygous duplication
No
viggiano_24_ASD_discovery_cases-case2.3
F
ASD
Case diagnosed with ASD according to DSM-5 criteria and assessed using ADOS-2 and CARS-2.
230095012
230188321
93310
GRCh38
Duplication
No
yin_16_ASD_discovery_cases-case48
N/A
N/A
ASD
Cases diagnosed with autistic disorder according to DSM-IV and confirmed by using the Chinese version of ADI-R.
227805227
227858289
53063
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-controlB681968_1007853271
N/A
N/A
Control
No previous psychiatric history
227905618
228009795
104178
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlHABC_901002_901002
N/A
N/A
Control
No previous psychiatric history
228648512
228804123
155612
GRCh38
Duplication
No
kanduri_15_ASD_discovery_controls-control_split763
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
228098340
228260728
162389
Unknown
Deletion
No
krumm_15_ASD_discovery_controls-control13552.s1
N/A
Male
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
228737672
228743740
6069
GRCh38
Duplication
Yes
poultney_13_ASD_discovery_controls-control04C37831A
N/A
F
Control
NIMH Control (NIMH ID 92135)
228224459
228273547
49089
GRCh38
Deletion
No
poultney_13_ASD_discovery_controls-control05C42416B
N/A
F
Control
NIMH Control (NIMH ID 69218)
228224459
228272221
47763
GRCh38
Deletion
No
poultney_13_ASD_discovery_controls-control05C43347
N/A
F
Control
NIMH Control (NIMH ID 27459)
228288061
228305386
17326
GRCh38
Duplication
No
poultney_13_ASD_discovery_controls-control05C43347
N/A
F
Control
NIMH Control (NIMH ID 27459)
228224459
228273547
49089
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11372.s1
4
M
Control (matched sibling)
NA
NA
227522680
227539884
17205
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11439.s1
4.8
M
Control (matched sibling)
NA
NA
227522680
227557389
34710
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11444.s1
19.5
F
Control (matched sibling)
NA
NA
227489805
227508129
18325
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11456.s1
11.3
M
Control (matched sibling)
NA
NA
227522680
227541334
18655
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11494.s1
19.3
M
Control (matched sibling)
NA
NA
227522680
227539884
17205
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11600.s1
19.2
M
Control (matched sibling)
NA
NA
227522680
227541334
18655
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11665.s1
12.9
M
Control (matched sibling)
NA
NA
227522680
227541334
18655
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11677.s1
11.8
F
Control (matched sibling)
NA
NA
227522680
227541334
18655
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11691.s1
16.3
M
Control (matched sibling)
NA
NA
227522680
227539884
17205
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11922.s1
13.4
M
Control (matched sibling)
NA
NA
227522680
227541334
18655
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11928.s1
14.1
M
Control (matched sibling)
NA
NA
227522680
227541334
18655
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-12170.s1
5.8
F
Control (matched sibling)
NA
NA
227522680
227541334
18655
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-12964.s1
8.5
M
Control (matched sibling)
NA
NA
230477362
230489054
11693
GRCh38
Deletion
No
stamouli_18_ASD/NDD_discovery_controls-family42_Twin_2
N/A
N/A
Control
Control is from a monozygotic twin pair from the Concordant typically developed (TD) diagnostic subgroup
228306443
228378686
72244
GRCh38
Duplication
No
Cases
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
brandler_18_ASD_replication_cases-caseSSC05432
No validation step reported
Paternal
GALNT2
feliciano_19_ASD_discovery_cases-caseSP0001116
Maternal
ACTA1,NUP133
null
feliciano_19_ASD_discovery_cases-caseSP0001151
Maternal
ACTA1,NUP133
null
girirajan_11_ASD_discovery_cases-Si99
Unknown
Simplex
GJC2,IBA57-DT,TRIM11,MIR6742,HIST3H3,RPL23AP15,HIST3H2A,MIR4666A,HIST3H2BA,BTNL10,GUK1,IBA57,OBSCN-AS1,TRIM17,RNF187,OBSCN,HIST3H2BB
girirajan_13a_ASD_discovery_cases-11141.p1
Unknown
Simplex
Unknown
GJC2,IBA57-DT,TRIM11,MIR6742,HIST3H3,RPL23AP15,HIST3H2A,MIR4666A,HIST3H2BA,BTNL10,GUK1,IBA57,OBSCN-AS1,TRIM17,RNF187,OBSCN,HIST3H2BB
girirajan_13b_ASD_discovery_cases-9405102860
Unknown
Unknown
Unknown
GJC2,IBA57-DT,TRIM11,MIR6742,HIST3H3,RPL23AP15,HIST3H2A,MIR4666A,HIST3H2BA,BTNL10,IBA57,OBSCN-AS1,TRIM17,RNF187,OBSCN,HIST3H2BB
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002735
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Maternal
Unknown
Unknown
TMEM78,SPHAR,RNU6-180P,RAB4A,CCSAP
krumm_13_ASD_discovery_cases-case12403.p1
Paternal
Simplex
Segregated
GALNT2
nord_11_ASD_discovery_cases-301-1
Maternal
OBSCN
poultney_13_ASD_discovery_cases-case05HI3571A
Unknown
Unknown (likely multiplex/AGRE)
Unknown
OBSCN
prasad_12_ASD_discovery_cases-case102350
Unknown
Unknown
Unknown
0 genes
prasad_12_ASD_discovery_cases-case117463L
Unknown
Simplex
Unknown
RNF187,HIST3H3,HIST3H2BB,HIST3H2A
quintela_17_DD/ID_discovery_cases-caseID_218
Unknown
Unknown
NUCKS1P1,BTF3P9,TUBB8P10,RNA5SP77,TUBB8P9,LINC01641,ZNF678
sanders_11_ASD_discovery_cases-11011.p1
Paternal
Simplex (quad-proband matched)
Segregated
sanders_11_ASD_discovery_cases-11201.p1
Unknown
Simplex (quad-proband matched)
Segregated
TUBB8P9
sanders_11_ASD_discovery_cases-11321.p1
Unknown
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11452.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11512.p1
Maternal
Simplex (quad-proband matched)
Segregated
sanders_11_ASD_discovery_cases-11592.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11620.p1
Unknown
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11665.p1
Both parents
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11677.p1
Both parents
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11935.p1
Both parents
Simplex (quad-proband matched)
Segregated
OBSCN
sanders_11_ASD_discovery_cases-11948.p1
Both parents
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12158.p1
Maternal
Simplex (trio)
NA
sanders_11_ASD_discovery_cases-12403.p1
Paternal
Simplex (quad-proband matched)
Segregated
GALNT2
schrauwen_24_ASD/ADHD/DD/ID_discovery_cases-caseFIN83-3
Unknown
Simplex
NUP133
viggiano_24_ASD_discovery_cases-case2.3
Maternal
Simplex
GALNT2
yin_16_ASD_discovery_cases-case48
Unknown
Unknown
Unknown
PRSS38
Controls
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
engchuan_15_ASD_discovery_controls-controlB681968_1007853271
Unknown
MIR5008,CICP26,SEPT14P17,WNT3A,WNT9A
engchuan_15_ASD_discovery_controls-controlHABC_901002_901002
Unknown
DUSP5P1,FTH1P2,RHOU
kanduri_15_ASD_discovery_controls-control_split763
Unknown
WNT3A,WNT9A
krumm_15_ASD_discovery_controls-control13552.s1
1M-Duov3
Paternal
RHOU
poultney_13_ASD_discovery_controls-control04C37831A
Unknown
OBSCN
poultney_13_ASD_discovery_controls-control05C42416B
Unknown
OBSCN
poultney_13_ASD_discovery_controls-control05C43347
Unknown
OBSCN
poultney_13_ASD_discovery_controls-control05C43347
Unknown
OBSCN
sanders_11_ASD_discovery_controls-11372.s1
Both parents
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11439.s1
Both parents
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11444.s1
Unknown
Simplex (quad)
NA
TUBB8P10,TUBB8P9
sanders_11_ASD_discovery_controls-11456.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11494.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11600.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11665.s1
Both parents
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11677.s1
Both parents
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11691.s1
Both parents
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11922.s1
Both parents
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11928.s1
Both parents
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12170.s1
Both parents
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12964.s1
Maternal
Simplex (quad)
NA
stamouli_18_ASD/NDD_discovery_controls-family42_Twin_2
Unknown
N/A (both twins typically developing)
OBSCN
No Animal Model Data Available