1p32.3CNV Type: Deletion-Duplication
Largest CNV size: 93928 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
Paternally inherited cis-regulatory structural variants are associated with autism.
Deletion
Minor Reports
Title
Author, Year
Report Class
CNV Type
Rare structural variation of synapse and neurotransmission genes in autism.
Duplication
Multiple recurrent de novo CNVs, including duplications of the 7q11.23 Williams syndrome region, are strongly associated with autism.
Deletion-Duplication
A discovery resource of rare copy number variations in individuals with autism spectrum disorder.
Deletion-Duplication
Contribution of copy number variants involving nonsense-mediated mRNA decay pathway genes to neuro-developmental disorders.
Deletion-Duplication
Prospective diagnostic analysis of copy number variants using SNP microarrays in individuals with autism spectrum disorders.
Duplication
The landscape of copy number variations in Finnish families with autism spectrum disorders.
Deletion
Genome-wide analysis of copy number variations identifies PARK2 as a candidate gene for autism spectrum disorder.
Deletion-Duplication
Diagnostic yield of patients with undiagnosed intellectual disability
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
118
1
0
1
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
32187
1
0
1
digregorio_17_DD/ID_discovery_cases
Consecutive cases examined in the Medical Genetics Unit at the "Citta della Salte e della Scienza" University Hospital (Turin, Italy) from 2008 to 2014 (cases with CNVs are present in DECIPHER database)
1015
Cases diagnosed with idiopathic developmental delay and/or intellectual disability (DD/ID)
N/A
N/A
176000
0
1
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
180625
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
549532
1
0
1
kanduri_15_ASD_discovery_cases
Autistic cases from an initial sample of 83 Finnish families comprising 257 family members following quality control
80
Diagnosis of ASD based on DSM-IV, 4th edition, or ICD-10 criteria; patients screened based on Childhood Autism Rating Scale (CARS), Asperger Syndrome Screening Questionnaire, and Asperger's Syndrome Diagnostic Interview.
N/A
N/A
42616
1
0
1
krumm_15_ASD_discovery_cases
Probands from the Simons Simplex Collection
2377
Diagnosis of ASD
N/A
N/A
174507
0
1
1
leite_22_DD/ID_discovery_cases
Individuals from a retrospective cross-sectional study, from 2013 to 2017, which included a representative subset of a population composed by patients who were physically examined and clinically diagnosed with intellectual disability, global developmental delay, and/or multiple congenital anomalies by assistant physicians from the state public health service of Gois.
369
Cases presented with global developmental delay/intellectual disability (DD/ID) with or without multiple congenital anomalies.
93.2% of cases under 18 yrs.
47.4% Male
1592893
1
0
1
mahjani_22_OCD/CTD_discovery_cases
Subjects from the Epidemiology and Genetics of Obsessive-Compulsive Disorder and Chronic Tic Disorders in Sweden (EGOS) cohort from an initial cohort of 1249 affected individuals after quality control.
1210
993 cases diagnosed with obsessive-compulsive disorder (OCD) and 217 cases diagnosed with chronic tic disorder (CTD) according to ICD-10 crtieria (note: 91 cases were diagnosed with both OCD and CTD). A subset of cases in this cohort had additional diagnoses of autism spectrum disorder (ASD) and ADHD (according to ICD-10 criteria).
Age of at least 16 yrs. (in the year 1997).
42.15% Male
2158962
1
0
1
maini_18_ASD/DD/ID_discovery_cases
Patients evaluated at the Clinical Genetics Unit of Arcispedale Santa Maria Nuova, AUSL-IRCCS of Reggio Emilia that were investigated through aCGH between 2005 and 2016
293
Cases presented with one or more neurodevelopmental disorders (NDD), multiple congenital anomalies (MCA), and/or dysmorphic features. Most frequent neurodevelopmental diagnoses include language delay (78.5%), intellectual disability (66.4%), motor delay (50.7%), and ASD (13.9%); dysmorphic features were also frequently observed (52.7%)
Mean age, 7 yrs. (range, 1 mo.-29 yrs.)
57.5% Male
120000
0
1
1
mazzonetto_24_ASD/DD/ID_discovery_cases
Patients from a total of 15 non-profit organizations and university centers located in different states of Brazil who were enrolled between July 2021 and June 2022 and referred with unexplained neurodevelopmental delay/intellectual disability, autism spectrum disorder (ASD), and/or multiple congenital anomalies.
1363
"95% of individuals in this cohort reported with the HPO phenotype ""Abnormality of the nervous system"" (HP:0000707); the HPO phenotypes ""Intellectual disability"" (HP:0001249; 36%), ""Global developmental delay"" (HP:0001263; 32%), and ""Autism"" (HP:0000717; 28%) were the most frequently reported phenotype subcategories within this subset of individuals."
63.17% Male
600000
1
0
1
nava_13_ASD_discovery_cases
Subjects recruited in the Centre de Reference deficiences intellectuelles de causes rares', the 'Centre Diagnostic Autisme', Pitie-Salpetriere Hospital (Paris, France) or the Fondation Lejeune over a period of 3 years (20092011).
194
Cases assessed with ADI-R
N/A
83.5% Male
66000
0
1
1
nguyen_13_DD/ID/MCA/ASD_discovery_cases
Patients from the Developmental Gene Anatomy Project at Harvard Medical School (DGAP), the Developmental Gene Discovery Project at Georgia Health Sciences University (DGDP), the National Institute of General Medical Sciences Human Genetic Cell Repository (NIGMS), the Signature Genomic Laboratories Genoglyphix Chromosome Aberration Database, and DECIPHER
57365
Predominant cohort diagnosis of developmental delay/intellectual disability and/or mulitple congenital anomalies (MCA); 5 cases with additional diagnosis of autism/ASD
N/A
N/A
N/A
2
2
4
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
15335
1
1
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
93928
11
1
12
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
324835
1
2
3
Controls
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
brandler_18_ASD_discovery_controls
Unaffected individuals from the Relating Genes with Adolescent and Child Health (REACH) cohort (112 individuals from 311 families) and the Simons Simplex 1 (SSC1) cohort (518 controls from simplex quad families)
630
Control
N/A
N/A
2192
2
0
2
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
148147
1
2
3
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
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
70430
1
1
2
leblond_19_ASD_discovery_controls
Control cohort consisting of 136 unaffected relatives of ASD cases and 185 non-autism controls
321
Control
N/A
N/A
106620
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
70501
0
1
1
nguyen_13_DD/ID/MCA/ASD_discovery_controls
Control data from the Database of Genomic Variants (DGV, n=12,145) and a published dataset of 8,329 individuals from Moriarty et al., 1998.
20474
Control
N/A
N/A
N/A
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.
12527
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)
19779
0
1
1
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)
15335
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.
49705
11
1
12
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
324835
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
brandler_18_ASD_replication_cases
N/A
WGS
Illumina HiSeq X10
ForestSV, Lumpy, Manta, Mobster, SV2
None
digregorio_17_DD/ID_discovery_cases
Italian
aCGH
Agilent 60K (SurePrint G3 Human CGH Microarray 8x60K)
ADM-2
Agilent CGH Analytics software ver. 4.0.81
None
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
kanduri_15_ASD_discovery_cases
Finnish
Solid phase hybridization
Illumina Human OmniExpress-12v1.0 BeadChip
QuantiSNP, PennCNV
Illumina BeadStudio
None
krumm_15_ASD_discovery_cases
N/A
WES
CoNIFER, XHMM
Solid phase hybridization (Illumina 1M, 1 M Duo, or Omni 2.5)
leite_22_DD/ID_discovery_cases
Brazil
CMA
Thermofisher GeneChip CytoScanHD
NA
ThermoFisher ChAS v.3.0
None
mahjani_22_OCD/CTD_discovery_cases
Sweden
Solid phase hybridization
Illumina Infinium Global Screening Array
QuantiSNP, PennCNV, cnvPartition v.3.2.1
CNVision, Illumina GenomeStudio v.2.0
None
maini_18_ASD/DD/ID_discovery_cases
Italian
aCGH, array SNP
Multiple platforms, including Agilent and Affymetrix arrays (8x60K oligochips since 2012)
None
mazzonetto_24_ASD/DD/ID_discovery_cases
Brazil
Low-pass WGS
Illumina NovaSeq 6000
SNP-FASST2 (HMM)
BioDiscovery NxClinical
nava_13_ASD_discovery_cases
France
Solid phase hybridization
Illumina cytoSNP-12, Illumina 660W-Quad, Illumina 370CNV-Quad
GenomeStudio v.2011.1, CNVPartition v.3.1.6
None
nguyen_13_DD/ID/MCA/ASD_discovery_cases
N/A
aCGH
SignatureChip BACs aCGH, SignatureChip Oligo whole-genome microarray
N/A
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
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
brandler_18_ASD_discovery_controls
N/A
WGS
Illumina HiSeq X10 or HiSeq 2500
ForestSV, Lumpy, Manta, Mobster, SV2
PCR, array SNP
engchuan_15_ASD_discovery_controls
Caucasian
Solid phase hybridization
Illumina 1M
None
kaminsky_11_DD/ID/ASD_discovery_controls
NA
aCGH
Agilent 44K, Agilent 105K
Feature Extraction, DNA Analytics
kanduri_15_ASD_discovery_controls
Finnish
Solid phase hybridization
Illumina Infinium HD Human610-Quad BeadChip
QuantiSNP, PennCNV
Illumina BeadStudio
None
krumm_15_ASD_discovery_controls
N/A
WES
CoNIFER, XHMM
Solid phase hybridization (Illumina 1M, 1 M Duo, or Omni 2.5)
leblond_19_ASD_discovery_controls
Faroe Islands
Solid phase hybridization, WES
Illumina Infinium IlluminaOmni5-4 BeadChip, AgilentSureSelect Human All Exon V5
PennCNV, QuantiSNP
XHMM
None
levy_11_ASD_discovery_controls
aCGH
NimbleGen HD2
HMM
nguyen_13_DD/ID/MCA/ASD_discovery_controls
N/A
N/A
N/A
N/A
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-caseSSC09205
N/A
M
ASD
Case from SSC cohort
50811693
50811811
119
GRCh38
Deletion
Yes
brandler_18_ASD_replication_cases-caseAU1448303
N/A
F
ASD
Case from MSSNG cohort
51692481
51724667
32187
GRCh38
Deletion
No
digregorio_17_DD/ID_discovery_cases-DECIPHER_296487
N/A
M
Developmental delay/intellectual disability
54609980
54786745
176766
GRCh38
Duplication
No
gai_11_ASD_discovery_cases-AU1811301
Autism
53197848
53378472
180625
Unknown
Duplication
No
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00003857
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
54207426
54756958
549533
GRCh38
Deletion
Yes
kanduri_15_ASD_discovery_cases-case1958
N/A
N/A
ASD
Diagnosis of ASD based on DSM-IV, 4th edition, or ICD-10 criteria; patient screened based on Childhood Autism Rating Scale (CARS), Asperger Syndrome Screening Questionnaire, and/or Asperger's Syndrome Diagnostic Interview.
53217335
53259950
42616
Unknown
Deletion
No
krumm_15_ASD_discovery_cases-case14010.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Trio
54584654
54759161
174508
GRCh38
Duplication
Yes
leite_22_DD/ID_discovery_cases-case034
4 yrs.
M
Developmental delay
Global developmental delay
53428643
55021535
1592893
GRCh38
Deletion
No
mahjani_22_OCD/CTD_discovery_cases-case45
NA
M
OCD
Case diagnosed with obsessive compulsive disorder (OCD).
53342130
55501091
2158962
GRCh38
Deletion
No
maini_18_ASD/DD/ID_discovery_cases-case_unknown90
N/A
N/A
NDD/MCA/dysmorphic features
CNV was identified in an individual with one or more neurodevelopmental disorders (NDD), multiple congenital anomalies (MCA), and/or dysmorphic features (detailed clinical information was not available). CNV classified as variant of unknown significance-likely benign (VOUS-LB)
54668387
54786745
118359
GRCh38
Duplication
No
mazzonetto_24_ASD/DD/ID_discovery_cases-caseDECIPHER530903
M
Intellectual disability and seizures
Seizure (HP:0001250), abnormal facial shape (HP:0001999)
Intellectual disability (HP:0001249)
52605112
53205111
600000
GRCh38
Deletion
No
nava_13_ASD_discovery_cases-Fam1244Proband10882
N/A
M
ASD
Additional clinical profile info N/A
ID
54518258
54584133
65876
GRCh38
Duplication
No
nguyen_13_DD/ID/MCA/ASD_discovery_cases-patient1
N/A
N/A
DD/ID/MCA
N/A
N/A
N/A
N/A
N/A
GRCh37
Deletion
N/A
nguyen_13_DD/ID/MCA/ASD_discovery_cases-patient2
N/A
N/A
DD/ID/MCA
N/A
N/A
N/A
N/A
N/A
GRCh37
Deletion
N/A
nguyen_13_DD/ID/MCA/ASD_discovery_cases-patient3
N/A
N/A
DD/ID/MCA
N/A
N/A
N/A
N/A
N/A
GRCh37
Duplication
N/A
nguyen_13_DD/ID/MCA/ASD_discovery_cases-patient4
N/A
N/A
DD/ID/MCA
N/A
N/A
N/A
N/A
N/A
GRCh37
Duplication
N/A
prasad_12_ASD_discovery_cases-case117486L
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
55121340
55132788
11449
Unknown
Duplication
No
prasad_12_ASD_discovery_cases-case86312
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
54864679
54880013
15335
Unknown
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
54168174
54186309
18136
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11158.p1
10.7
M
Autism
NA
Full-scale IQ, 55; non-verbal IQ, 71; verbal IQ, 39
51087166
51116920
29755
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11963.p1
6.1
M
ASD
NA
Full-scale IQ, 93; non-verbal IQ, 90; verbal IQ, 104
52018938
52047060
28123
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12137.p1
5.9
M
Autism
NA
Full-scale IQ, 91; non-verbal IQ, 98; verbal IQ, 83
51087166
51116920
29755
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12225.p1
15.3
M
Autism
NA
Full-scale IQ, 81; non-verbal IQ, 89; verbal IQ, 77
55802364
55808247
5884
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12240.p1
8.9
M
ASD
NA
Full-scale IQ, 91; non-verbal IQ, 86; verbal IQ, 104
55808247
55826234
17988
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12274.p1
5.4
M
Autism
NA
Full-scale IQ, 39; non-verbal IQ, 48; verbal IQ, 30
54716627
54747311
30685
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12493.p1
15.3
F
ASD
NA
Full-scale IQ, 88; non-verbal IQ, 92; verbal IQ, 86
52794278
52888206
93929
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12715.p1
6.6
M
Autism
NA
Full-scale IQ, 105; non-verbal IQ, 103; verbal IQ, 109
52023649
52056854
33206
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12892.p1
6.3
M
ASD
NA
Full-scale IQ, 69; non-verbal IQ, 79; verbal IQ, 63
51087166
51116920
29755
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-13015.p1
5.3
M
Autism
NA
Full-scale IQ, 78; non-verbal IQ, 80; verbal IQ, 81
54719531
54752131
32601
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-13093.p1
13.9
M
Autism
NA
Full-scale IQ, 167; non-verbal IQ, 161; verbal IQ, 153
52030670
52056854
26185
GRCh38
Deletion
No
yin_16_ASD_discovery_cases-case18
N/A
N/A
ASD
Cases diagnosed with autistic disorder according to DSM-IV and confirmed by using the Chinese version of ADI-R.
53022186
53033052
10867
GRCh38
Deletion
No
yin_16_ASD_discovery_cases-case19
N/A
N/A
ASD
Cases diagnosed with autistic disorder according to DSM-IV and confirmed by using the Chinese version of ADI-R.
54513275
54838109
324835
GRCh38
Duplication
No
yin_16_ASD_discovery_cases-case20
N/A
N/A
ASD
Cases diagnosed with autistic disorder according to DSM-IV and confirmed by using the Chinese version of ADI-R.
54513275
54838109
324835
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
brandler_18_ASD_discovery_controls-controlSSC05257
N/A
F
Control
Control from SSC_phase1 cohort
54298757
54300949
2193
GRCh38
Deletion
Yes
brandler_18_ASD_discovery_controls-controlSSC09150
N/A
F
Control
Control from SSC_phase1 cohort
52416855
52418625
1771
GRCh38
Deletion
Yes
engchuan_15_ASD_discovery_controls-controlHABC_900046_900046
N/A
N/A
Control
No previous psychiatric history
53661031
53757804
96774
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlHABC_900305_900305
N/A
N/A
Control
No previous psychiatric history
54575365
54723512
148148
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlHABC_902854_902854
N/A
N/A
Control
No previous psychiatric history
55592176
55652052
59877
GRCh38
Duplication
No
krumm_15_ASD_discovery_controls-control11986.s1
N/A
Female
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
54737581
54808011
70431
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_controls-control12799.s1
N/A
Male
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
51461090
51472948
11859
GRCh38
Deletion
Yes
leblond_19_ASD_discovery_controls-controlPN400325
N/A
F
Control
Non-autism control
51772062
51878679
106618
GRCh38
Duplication
No
levy_11_ASD_discovery_controls-11986.s1
NA
F
Control
NA
NA
54737363
54807863
70501
GRCh38
Duplication
No
nguyen_13_DD/ID/MCA/ASD_discovery_controls-control1
N/A
N/A
Control
N/A
N/A
N/A
N/A
N/A
GRCh37
Duplication
N/A
nord_11_ASD_discovery_controls-04C27412
Control
53641979
53654505
12527
Unknown
Deletion
poultney_13_ASD_discovery_controls-control05C44954
N/A
F
Control
NIMH Control (NIMH ID 12344)
54584653
54604431
19779
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11110.s1
16.8
M
Control (matched sibling)
NA
NA
54168174
54186309
18136
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11986.s1
9
F
Control (matched sibling)
NA
NA
54752131
54801836
49706
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-12225.s1
16.4
M
Control (matched sibling)
NA
NA
55802364
55808247
5884
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12274.s1
7.6
F
Control (matched sibling)
NA
NA
54702411
54747311
44901
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12359.s1
6.3
F
Control (matched sibling)
NA
NA
54737462
54739526
2065
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12510.s1
4.1
M
Control (matched sibling)
NA
NA
51087166
51116920
29755
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12652.s1
4.1
F
Control (matched sibling)
NA
NA
54716627
54723512
6886
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12799.s1
9
M
Control (matched sibling)
NA
NA
51440962
51487301
46340
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12817.s1
15.7
F
Control (matched sibling)
NA
NA
54717459
54739526
22068
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12888.s1
10.5
F
Control (matched sibling)
NA
NA
54711637
54752131
40495
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12892.s1
15.4
F
Control (matched sibling)
NA
NA
54716627
54747311
30685
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-13015.s1
7.1
F
Control (matched sibling)
NA
NA
54719531
54752131
32601
GRCh38
Deletion
No
Cases
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
brandler_18_ASD_discovery_cases-caseSSC09205
PCR
De novo
FAF1
brandler_18_ASD_replication_cases-caseAU1448303
No validation step reported
Paternal
SLC25A6P3,GAPDHP51,OSBPL9
digregorio_17_DD/ID_discovery_cases-DECIPHER_296487
De novo
FAM151A,PARS2,ACOT11,TTC4,MROH7,MROH7-TTC4,TTC22
gai_11_ASD_discovery_cases-AU1811301
Inherited
SCP2, PODN, SLC1A7
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00003857
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Maternal
Unknown
Unknown
SSBP3-AS1,HNRNPA1P63,FAM151A,PARS2,MRPL37,ACOT11,TTC4,SSBP3,MROH7,MROH7-TTC4
kanduri_15_ASD_discovery_cases-case1958
Paternal
Unknown
Unknown
ZYG11B
krumm_15_ASD_discovery_cases-case14010.p1
Omni2.5-4v1
Paternal
Simplex
Segregated
FAM151A,PARS2,ACOT11,TTC4,MROH7,MROH7-TTC4
leite_22_DD/ID_discovery_cases-case034
De novo
DHCR24,DIO1,HSPB11,MRPL37,YIPF1,NDC1,TTC22,DMRTB1,LRRC42,TCEANC2,GLIS1,LEXM,SLC25A3P1,CDCP2,TMEM61,FAM151A,LDLRAD1,MROH7,CYB5RL,SSBP3-AS1,HNRNPA1P63,HNRNPA3P12,MROH7-TTC4,MIR4781,LINC02784,RNU7-95P,TTC4,DHCR24-DT,BSND,TMEM59,SSBP3,ACOT11,PARS2
mahjani_22_OCD/CTD_discovery_cases-case45
Unknown
DHCR24,DIO1,HSPB11,MRPL37,YIPF1,NDC1,TTC22,DMRTB1,LRRC42,TCEANC2,GLIS1,LEXM,SLC25A3P1,CDCP2,TMEM61,PCSK9,FAM151A,LDLRAD1,MROH7,CYB5RL,SSBP3-AS1,GOT2P1,HNRNPA1P63,GYG1P3,HNRNPA3P12,MROH7-TTC4,MIR4422,MIR4781,LINC02784,RNU7-95P,TTC4,RNU6-830P,RN7SKP291,DHCR24-DT,LINC02812,MTCO2P34,MIR4422HG,BSND,TMEM59,SSBP3,ACOT11,USP24,PARS2
maini_18_ASD/DD/ID_discovery_cases-case_unknown90
Paternal
Unknown
Unknown
PARS2,TTC4,MROH7,MROH7-TTC4,TTC22
mazzonetto_24_ASD/DD/ID_discovery_cases-caseDECIPHER530903
Unknown
CPT2,ECHDC2,COA7,ZYG11B,PODN,GPX7,SHISAL2A,ZYG11A,RPS13P2,RRAS2P1,NDUFS5P3,TUBBP10,HIGD1AP11,RN7SL62P,SLC1A7,SCP2,RNU6-969P,RNU2-30P,H3P2
nava_13_ASD_discovery_cases-Fam1244Proband10882
Maternal
Simplex
Unknown
HNRNPA1P63,ACOT11
nguyen_13_DD/ID/MCA/ASD_discovery_cases-patient1
Unknown
Unknown
Unknown
Minimum CNV gene content: MAGOH
nguyen_13_DD/ID/MCA/ASD_discovery_cases-patient2
Unknown
Unknown
Unknown
Minimum CNV gene content: MAGOH
nguyen_13_DD/ID/MCA/ASD_discovery_cases-patient3
Unknown
Unknown
Unknown
Minimum CNV gene content: MAGOH
nguyen_13_DD/ID/MCA/ASD_discovery_cases-patient4
Unknown
Unknown
Unknown
Minimum CNV gene content: MAGOH
prasad_12_ASD_discovery_cases-case117486L
Unknown
Unknown
Unknown
DHCR24
prasad_12_ASD_discovery_cases-case86312
Unknown
Unknown
Unknown
ACOT11
sanders_11_ASD_discovery_cases-11110.p1
Unknown
Simplex (quad-proband matched)
Not segregated
CYB5RL,MRPL37
sanders_11_ASD_discovery_cases-11158.p1
Maternal
Simplex (quad-proband matched)
Segregated
C1orf185
sanders_11_ASD_discovery_cases-11963.p1
Maternal
Simplex (quad-proband matched)
Not segregated
KTI12,TXNDC12
sanders_11_ASD_discovery_cases-12137.p1
Unknown
Simplex (trio)
NA
C1orf185
sanders_11_ASD_discovery_cases-12225.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12240.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12274.p1
Unknown
Simplex (quad-proband matched)
Not segregated
TTC4,MROH7-TTC4
sanders_11_ASD_discovery_cases-12493.p1
Maternal
Simplex (quad-proband unmatched)
Unknown
RNU6-969P,ZYG11A,ZYG11B
sanders_11_ASD_discovery_cases-12715.p1
Unknown
Simplex (quad-proband matched)
Not segregated
KTI12,TXNDC12-AS1,BTF3L4,TXNDC12
sanders_11_ASD_discovery_cases-12892.p1
Paternal
Simplex (quad-proband matched)
Not segregated
C1orf185
sanders_11_ASD_discovery_cases-13015.p1
Maternal
Simplex (quad-proband matched)
Not segregated
TTC4,MROH7-TTC4
sanders_11_ASD_discovery_cases-13093.p1
Unknown
Simplex (quad-proband matched)
Not segregated
KTI12,TXNDC12-AS1,BTF3L4,TXNDC12
yin_16_ASD_discovery_cases-case18
Unknown
Unknown
Unknown
SCP2
yin_16_ASD_discovery_cases-case19
Unknown
Unknown
Unknown
HNRNPA1P63,FAM151A,PARS2,ACOT11,TTC4,LEXM,MROH7,MROH7-TTC4,TTC22
yin_16_ASD_discovery_cases-case20
Unknown
Unknown
Unknown
HNRNPA1P63,FAM151A,PARS2,ACOT11,TTC4,LEXM,MROH7,MROH7-TTC4,TTC22
Controls
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
brandler_18_ASD_discovery_controls-controlSSC05257
PCR or SNP data validation
Maternal
SSBP3
brandler_18_ASD_discovery_controls-controlSSC09150
PCR or SNP data validation
Paternal
PRPF38A,TUT4
engchuan_15_ASD_discovery_controls-controlHABC_900046_900046
Unknown
RNU7-95P,GLIS1
engchuan_15_ASD_discovery_controls-controlHABC_900305_900305
Unknown
FAM151A,ACOT11,TTC4,MROH7,MROH7-TTC4
engchuan_15_ASD_discovery_controls-controlHABC_902854_902854
Unknown
krumm_15_ASD_discovery_controls-control11986.s1
Illumina 1MDuo
Paternal
PARS2,TTC4,LEXM,MROH7-TTC4,TTC22
krumm_15_ASD_discovery_controls-control12799.s1
Illumina 1MDuo
Maternal
EPS15
leblond_19_ASD_discovery_controls-controlPN400325
Unknown
MIR761,TSEN15P2,NRDC,OSBPL9
levy_11_ASD_discovery_controls-11986.s1
Paternal
Simplex
NA
PARS2,TTC4,LEXM,MROH7-TTC4,TTC22
nguyen_13_DD/ID/MCA/ASD_discovery_controls-control1
Unknown
Unknown
Unknown
Minimum CNV gene content: MAGOH
nord_11_ASD_discovery_controls-04C27412
0 genes
poultney_13_ASD_discovery_controls-control05C44954
Unknown
ACOT11
sanders_11_ASD_discovery_controls-11110.s1
Unknown
Simplex (quad)
NA
CYB5RL,MRPL37
sanders_11_ASD_discovery_controls-11986.s1
Paternal
Simplex (quad)
NA
PARS2,TTC22
sanders_11_ASD_discovery_controls-12225.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12274.s1
Unknown
Simplex (quad)
NA
TTC4,MROH7,MROH7-TTC4
sanders_11_ASD_discovery_controls-12359.s1
Paternal
Simplex (quad)
NA
TTC4,MROH7-TTC4
sanders_11_ASD_discovery_controls-12510.s1
Unknown
Simplex (quad)
NA
C1orf185
sanders_11_ASD_discovery_controls-12652.s1
Maternal
Simplex (quad)
NA
TTC4,MROH7-TTC4
sanders_11_ASD_discovery_controls-12799.s1
Maternal
Simplex (quad)
NA
EPS15
sanders_11_ASD_discovery_controls-12817.s1
Unknown
Simplex (quad)
NA
TTC4,MROH7-TTC4
sanders_11_ASD_discovery_controls-12888.s1
Unknown
Simplex (quad)
NA
TTC4,MROH7-TTC4
sanders_11_ASD_discovery_controls-12892.s1
Unknown
Simplex (quad)
NA
TTC4,MROH7-TTC4
sanders_11_ASD_discovery_controls-13015.s1
Maternal
Simplex (quad)
NA
TTC4,MROH7-TTC4
No Animal Model Data Available