16q24.2CNV Type: Deletion-Duplication
Largest CNV size: 92568 bp
Statistics Box:
Number of Reports: 10
Number of Reports: 10
Summary Information
Summary statement in development
Additional Locus Information
References
Major Reports
Title
Author, Year
Report Class
CNV Type
A discovery resource of rare copy number variations in individuals with autism spectrum disorder.
Deletion-Duplication
Copy number variation in 19 Italian multiplex families with autism spectrum disorder: Importance of synaptic and neurite elongation genes.
Duplication
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
Deletions in 16q24.2 are associated with autism spectrum disorder, intellectual disability and congenital renal malformation.
Deletion
Prospective diagnostic analysis of copy number variants using SNP microarrays in individuals with autism spectrum disorders.
Duplication
Molecular and clinical analyses of 16q24.1 duplications involving FOXF1 identify an evolutionarily unstable large minisatellite.
Duplication
Large-scale discovery of novel genetic causes of developmental disorders.
Deletion
Performance of case-control rare copy number variation annotation in classification of autism.
Duplication
Cases
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
dharmadhikari_14_ASD/ID_discovery_cases
Four cases with 16q24.1 duplications involving the FOXF1 gene: two from Medical Genetics Laboratories at Baylor College of Medicine; one from the Medical Genetics Center, Munich, Germany; and one reported in DECIPHER (265898) from the Saint Vincent de Paul Catholic Hospitals Association of Lille, Free Faculty of Medicine, Lille, France
4
Three cases with neurodevelopmental phenotypes [case 1 diagnosed with speech delay and behavioral problems; case 2 diagnosed with autism (based on DSM-V), with additional diagnoses of unspecified mood and anxiety disorder, pervasive developmental disorder not otherwise specified (PDD-NOS), and emotional disorder; case 4 diagnosed with speech delay, motor delay, and borderline intellectual disability]; one case (case 3) with normal psychomotor development but diagnosis with pyloric stenosis, mesenterium commune, aplasia of the appendix, and multiple sclerosis.
Range, 4 yrs. 2 mos.-47 yrs.
75% Male
52000
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
293746
0
2
2
fitzgerald_14_ASD/DD/ID_discovery_cases
Children recruited through all 24 regional genetics services of the UK National Health Service and Republic of Ireland as part of the Deciphering Developmental Disorders Study
1133
Cases affected by severe, undiagnosed developmental disorders; most common phenotypes include developmental delay, intellectual disability, specific learning disability, autism, seizures, microcephaly, and dysmorphic features.
Median age, 5.5 years
N/A
1349903
1
0
1
handrigan_13_ASD/DD/ID_discovery_cases
Patients with 16q24.2 deletions recruited at the University of Alberta, Edmonton, the Hospital for Sick Children, Toronto, Signature Genomic Laboratories, and the Mayo Clinic).
35
22 patients with ASD (19 with pervasive developmental delay/PDD, 3 with autism), 3 patients with intellectual disability (defined as IQ<70 by DSM-IV); 11 patients with facial dysmorphisms.
Range, 0 mos.-20 yrs.
48.57% Male
799203
24
0
24
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
222794
0
1
1
krumm_15_ASD_discovery_cases
Probands from the Simons Simplex Collection
2377
Diagnosis of ASD
N/A
N/A
252876
0
2
2
lintas_17_ASD_discovery_cases
ASD cases from 19 Italian ASD multiplex families with either two (N=16) or three (N=3) autistic children
41
Cases were assessed with ADOS and ADI-R, Vineland Adaptive Behavior Scales, and either the Wechsler Intelligence Scales for Children (WISC), Griffith Mental Developmental Scales, Colored Raven Matrices, or Leiter International Performance Scale.
N/A
87.80% Male
48568
0
1
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
92000
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
20500
6
1
7
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
92568
2
2
4
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
71663
2
0
2
handrigan_13_ASD/DD/ID_discovery_controls
Microarray data from population-based control individuals [4783 controls from the Wellcome Trust Case Control Consortium (WTCCC), 1123 PopGen controls from Germany, 1234 controls from the Ottawa Heart Institute, 1056 controls from HapMap, 1287 controls from SAGE, 1120 population controls from Ontario, and 416 controsl from the Ontario Population Genomics Platform]
11019
Control
NA
NA
133117
16
0
16
krumm_15_ASD_discovery_controls
Unaffected siblings from quad families from the Simons Simplex Collection
1786
Control
N/A
N/A
65738
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)
20500
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.
5836
0
1
1
Cases
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
dharmadhikari_14_ASD/ID_discovery_cases
2 cases from United States, 1 case from Germany, 1 case from France
aCGH
Agilent/BCM V8.1.1 OLIGO 180 K, Agilent/BCM V9.1.1 OLIGO 400 K, BlueGnome CytoChip v1.0 180K, Agilent 8x60K
None
engchuan_15_ASD_discovery_cases
Caucasian
Solid phase hybridization
Illumina 1M
None
fitzgerald_14_ASD/DD/ID_discovery_cases
UK and Ireland
aCGH, WES
Agilent 2x1M, Agilent Exome+
Cnsolidate, CoNVex
None
handrigan_13_ASD/DD/ID_discovery_cases
NA
aCGH, solid phase hybridization
Illumina Omni 2.5M-Quad BeadChip, SignatureChipOS V1.0 105K, V2.0 135K, V3.0 135K, BACs aCGH, Agilent 4x180K ISCA V2, Agilent ISCA 44K, Agilent 180K
None
han_22_ASD/DD/ID_discovery_cases
Han Chinese
Array SNP
Affymetrix SNP 6.0, Affymetrix CytoScan HD
krumm_15_ASD_discovery_cases
N/A
WES
CoNIFER, XHMM
Solid phase hybridization (Illumina 1M, 1 M Duo, or Omni 2.5)
lintas_17_ASD_discovery_cases
Italy
aCGH
Agilent Human Genome CGH SurePrint G3 4x180K
ADM-2
Agilent Feature Extraction v10.7, Agilent Cytogenomic Software v2.9
Validation by visual inspection, RT-PCR, or PCR
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
prasad_12_ASD_discovery_cases
Canada
aCGH
Agilent 1M
ADM-2, DNAcopy (R Bioconductor)
DNA Analytics v4.0.85 (Agilent), DNAcopy
qPCR
sanders_11_ASD_discovery_cases
White non-Hispanic, 74.5%; mixed, 9.3%, Asian, 4.3%, White Hispanic, 4.0%, African-American, 3.8%; other, 4.2&
Solid phase hybridization
Illumina 1M v1, Illumina 1M v3
PennCNV, QuantiSNP, GNOSIS
Controls
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
engchuan_15_ASD_discovery_controls
Caucasian
Solid phase hybridization
Illumina 1M
None
handrigan_13_ASD/DD/ID_discovery_controls
NA
N/A
N/A
krumm_15_ASD_discovery_controls
N/A
WES
CoNIFER, XHMM
Solid phase hybridization (Illumina 1M, 1 M Duo, or Omni 2.5)
prasad_12_ASD_discovery_controls
NA
aCGH
Agilent 1M
ADM-2, DNAcopy (R Bioconductor)
DNA Analytics v4.0.85 (Agilent), DNAcopy
sanders_11_ASD_discovery_controls
Solid phase hybridization
Illumina 1M v1 or Illumina 1M v3
PennCNV, QuantiSNP, GNOSIS
Cases
Patient ID
Author, Year
Age
Gender
Primary Diagnosis
Clinical Profile
Cognitive Profile
CNV Start
CNV End
CNV Size
Genome Build
Type Method
Validation
dharmadhikari_14_ASD/ID_discovery_cases-case2
13 yrs.
M
Autism
Case diagnosed with autism (based on DSM-V); additional diagnoses of unspecified mood and anxiety disorder, pervasive developmental disorder not otherwise specified (PDD-NOS), and emotional disorder. Motor and musculoskeletal evaluation: delay in fine motor skills. Behavioral/psychiatric evaluation: extremely aggressive, poor social skills, poor eye contact. Additional medical history: other than remote history of asthma, no evidence of lung abnormalities. Growth parameters: height of 141.5 cm (12th %ile), weight of 32.95 kg (10th %ile), and head circumference of 52.5 cm (24th %ile) at age of 12 years. Family history: father diagnosed with bipolar disorder.
87476560
87528643
52084
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case21055_1
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
88495292
88590437
95146
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case4522_100
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
87515166
87808912
293747
GRCh38
Duplication
No
fitzgerald_14_ASD/DD/ID_discovery_cases-DECIPHER260745
N/A
F
Hypotonia and dysmorphic features
Hypertelorism; Depressed nasal bridge; Generalized hypotonia
87285844
88602945
1317102
GRCh38
Deletion
No
handrigan_13_ASD/DD/ID_discovery_cases-patient10
5 yrs.
M
ASD
Neurodevelopmental abnormalities: PDD (pervasive developmental delay). Urological abnormalities: none reported. Other features: none reported. Growth parameters: not reported.
87150123
87812135
662013
GRCh38
Deletion
No
handrigan_13_ASD/DD/ID_discovery_cases-patient11
14 yrs.
F
Epilepsy
Neurodevelopmental abnormalities: none. Urological abnormalities: none reported. Other features: seizures. Growth parameters: not reported.
87223779
87853460
629682
GRCh38
Deletion
No
handrigan_13_ASD/DD/ID_discovery_cases-patient12
13 yrs.
M
Other
Neurodevelopmental abnormalities: none reported. Urological abnormalities: none reported. Other features: unspecified non-psychotic mental disorder following organic brain damage. Growth parameters: not reported.
87223779
87440975
217197
GRCh38
Deletion
No
handrigan_13_ASD/DD/ID_discovery_cases-patient13
11 yrs.
F
ASD
Neurodevelopmental abnormalities: PDD (pervasive developmental delay). Urological abnormalities: none reported. Other features: none reported. Growth parameters: not reported.
87382052
87766879
384828
GRCh38
Deletion
No
handrigan_13_ASD/DD/ID_discovery_cases-patient14
2 mos.
F
Other
Neurodevelopmental abnormalities: none reported. Urological abnormalities: none reported. Other features: none reported. Growth parameters: not reported.
87686247
87854425
168179
GRCh38
Deletion
No
handrigan_13_ASD/DD/ID_discovery_cases-patient15
18 mos.
M
ASD
Neurodevelopmental abnormalities: PDD (pervasive developmental delay). Urological abnormalities: none reported. Other features: hypotonia, microcephaly, facial dysmorphism. Growth parameters: not reported.
87348796
87424025
75230
GRCh38
Deletion
No
handrigan_13_ASD/DD/ID_discovery_cases-patient16
4 yrs.
F
ASD
Neurodevelopmental abnormalities: PDD (pervasive developmental delay). Urological abnormalities: none reported. Other features: congenital musculoskeletal anomalies. Growth parameters: not reported. Family history: sibling with 16q24.2 deletion (handrigan_13_ASD/ID_discovery_cases-patient17).
87360517
88159720
799204
GRCh38
Deletion
No
handrigan_13_ASD/DD/ID_discovery_cases-patient17
6 yrs.
F
Other
Neurodevelopmental abnormalities: none reported. Urological abnormalities: none reported. Other features: none reported. Growth parameters: not reported. Family history: sibling with ASD (PDD (pervasive developmental delay)) and 16q24.2 deletion (handrigan_13_ASD/ID_discovery_cases-patient16).
87359770
88086604
726835
GRCh38
Deletion
No
handrigan_13_ASD/DD/ID_discovery_cases-patient18
20 yrs.
F
Intellectual disability
Neurodevelopmental abnormalities: intellectual disability. Urological abnormalities: none reported. Other features: none reported. Growth parameters: not reported.
Intellectual disability
87368079
87471131
103053
GRCh38
Deletion
No
handrigan_13_ASD/DD/ID_discovery_cases-patient19
14 yrs.
M
ASD and epilepsy
Neurodevelopmental abnormalities: autism, behavioral problems. Urological abnormalities: none reported. Other features: suspected fetal alcoholo syndrome, seizures, inversion of foot, pectus excavatum, high palate, irregular tooth spacing, overfolded auricles, crinkled lobule, prominent antihelix, umbilical hernia, hypoplastic thenar and antithenar, long narrow feet, 5th finger clinodactyly, prominent finger pads, talus rotation, hypotonia, facial dysmorphism. Growth parameters: height <3rd %ile, weight 10th-25th %ile.
87376900
87505829
128930
GRCh38
Deletion
No
handrigan_13_ASD/DD/ID_discovery_cases-patient2
15 yrs.
F
ASD
Neurodevelopmental abnormalities: autism. Urological abnormalities: none reported. Other features: neonatal respiratory distress and feeding difficulties associated with vomiting and poor weight gain, mild mitral valve prolpase, vitreous abnormalities on eye examination, recurrent ear infections requiring insertion of tympanostomy tubes, ridge over metopic suture, high forehead, frontal bossing, upsweep of frontal hair, broad nasal root and tip, hypoplastic malar areas, bilateral epicanthal folds, micrognathia, U-shaped cleft palate, glossoptosis, small pointed nose with thin alae nasi, prominent ears, pectus excavatum, left simian crease, hammertoe deformity of both halluces. Growth parameters: height 10th %ile, weight 50th-75th %ile. Family history: significant family history of micrognathia.
Global developmental delay, short-term memory problems, difficulties with math, spelling and writing.
87223579
87441116
217538
GRCh38
Deletion
No
handrigan_13_ASD/DD/ID_discovery_cases-patient20
8 mos.
M
Mulitple congential anomalies
Neurodevelopmental abnormalities: none reported. Urological abnormalities: none reported. Other features: micropenis, sexual development disorder, gonadal dysgenesis. Growth parameters: not reported.
87398773
87425962
27190
GRCh38
Deletion
No
handrigan_13_ASD/DD/ID_discovery_cases-patient26
11 yrs.
F
ASD
Neurodevelopmental abnormalities: autism spectrum disorder (ASD). Urological abnormalities: none reported. Other features: abnormal weight gain. Growth parameters: not reported.
87252300
87300656
48357
GRCh38
Deletion
No
handrigan_13_ASD/DD/ID_discovery_cases-patient27
17 mos.
M
ASD
Neurodevelopmental abnormalities: PDD (pervasive developmental delay). Urological abnormalities: none reported. Other features: none reported. Growth parameters: not reported.
87314529
87398833
84305
GRCh38
Deletion
No
handrigan_13_ASD/DD/ID_discovery_cases-patient28
11 yrs.
F
ASD
Neurodevelopmental abnormalities: PDD (pervasive developmental delay). Urological abnormalities: none reported. Other features: none reported. Growth parameters: not reported.
87252300
87300656
48357
GRCh38
Deletion
No
handrigan_13_ASD/DD/ID_discovery_cases-patient29
5 yrs.
M
ASD
Neurodevelopmental abnormalities: PDD (pervasive developmental delay). Urological abnormalities: none reported. Other features: none reported. Growth parameters: not reported.
87674459
87812612
138154
GRCh38
Deletion
No
handrigan_13_ASD/DD/ID_discovery_cases-patient3
4 yrs.
M
ASD
Neurodevelopmental abnormalities: autism. Urological abnormalities: none reported. Other features: no dysmorphic features. Growth parameters: height 75th %ile, weight 75th %ile.
87269532
87489641
220110
GRCh38
Deletion
No
handrigan_13_ASD/DD/ID_discovery_cases-patient32
6 mos.
M
ASD
Neurodevelopmental abnormalities: PDD (pervasive developmental delay). Urological abnormalities: none reported. Other features: none reported. Growth parameters: not reported.
87444871
87849379
404509
GRCh38
Deletion
No
handrigan_13_ASD/DD/ID_discovery_cases-patient33
4 yrs.
F
Intellectual disability
Neurodevelopmental abnormalities: intellectual disability. Urological abnormalities: none reported. Other features: none reported. Growth parameters: not reported.
87650256
87812612
162357
GRCh38
Deletion
No
handrigan_13_ASD/DD/ID_discovery_cases-patient35
6 yrs.
M
ASD
Neurodevelopmental abnormalities: PDD (pervasive developmental delay). Urological abnormalities: none reported. Other features: none reported. Growth parameters: not reported.
87471304
88086604
615301
GRCh38
Deletion
No
handrigan_13_ASD/DD/ID_discovery_cases-patient4
12 yrs.
M
ASD
Neurodevelopmental abnormalities: PDD (pervasive developmental delay). Urological abnormalities: none reported. Other features: mild dolichocephaly, deep-set eyes, crowding of teeth, underbite, velvety skin, hyperextensibility of small joints of hand, cafe-au-lait macules on chest. Growth parameters: height 40th %ile, weight 55th %ile.
87364450
87474529
110080
GRCh38
Deletion
No
handrigan_13_ASD/DD/ID_discovery_cases-patient5
14 yrs.
M
ASD and ID
Neurodevelopmental abnormalities: PDD (pervasive developmental delay). Urological abnormalities: none reported. Other features: mild hypertelorism, prominent low-set ears, flat nasal bridge. Growth parameters: height 36th %ile, weight 77th %ile.
Intellectual disability (IQ=64)
87398773
87425962
27190
GRCh38
Deletion
No
handrigan_13_ASD/DD/ID_discovery_cases-patient7
7 days
M
Epilepsy
Neurodevelopmental abnormalities: seizures, no developmental delay. Urological abnormalities: prenatal bilateral hydronephrosis. Other features: ventricular septal defect. Growth parameters: not reported.
87316203
87789753
473551
GRCh38
Deletion
No
handrigan_13_ASD/DD/ID_discovery_cases-patient9
2 yrs.
F
ASD
Neurodevelopmental abnormalities: PDD (pervasive developmental delay). Urological abnormalities: none reported. Other features: macrocephaly. Growth parameters: not reported.
87038922
87766879
727958
GRCh38
Deletion
No
han_22_ASD/DD/ID_discovery_cases-caseF10
3 yrs.
M
ASD
87611403
87834196
222794
GRCh38
Duplication
No
krumm_15_ASD_discovery_cases-case13638.p1
N/A
Female
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Trio
87765791
88018667
252877
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_cases-case14316.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
88520946
88586684
65739
GRCh38
Duplication
Yes
lintas_17_ASD_discovery_cases-case16.2
N/A
N/A
Autism
No additional clinical information available
88488486
88537054
48569
GRCh38
Duplication
Yes
nava_13_ASD_discovery_cases-Fam1057Proband9942
N/A
F
ASD
Additional clinical profile info N/A
ID
87577321
87669064
91744
GRCh38
Duplication
No
prasad_12_ASD_discovery_cases-case45751
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
86251131
86263122
11992
Unknown
Duplication
No
prasad_12_ASD_discovery_cases-case67839
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
86529134
86536355
7222
Unknown
Deletion
No
prasad_12_ASD_discovery_cases-case68711
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
86346896
86364864
17969
Unknown
Deletion
Yes
prasad_12_ASD_discovery_cases-case82503
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
86514711
86535210
20500
Unknown
Deletion
No
prasad_12_ASD_discovery_cases-case92812
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
86267253
86273542
6290
Unknown
Deletion
No
prasad_12_ASD_discovery_cases-case99746
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
86172267
86181823
9557
Unknown
Deletion
No
prasad_12_ASD_discovery_cases-caseMM0196-4
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
86306880
86326994
20115
Unknown
Deletion
No
sanders_11_ASD_discovery_cases-11523.p1
6.3
M
Autism
NA
Full-scale IQ, 77; non-verbal IQ, 85; verbal IQ, 72
87412447
87428363
15917
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12275.p1
4.4
M
Autism
NA
Full-scale IQ, 111; non-verbal IQ, 111; verbal IQ, 107
87676327
87681726
5400
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12306.p1
8.4
M
Autism
NA
Full-scale IQ, 66; non-verbal IQ, 57; verbal IQ, 84
88460013
88475388
15376
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12306.p1
8.4
M
Autism
NA
Full-scale IQ, 66; non-verbal IQ, 57; verbal IQ, 84
88337061
88426827
89767
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-controlHABC_900134_900134
N/A
N/A
Control
No previous psychiatric history
87079049
87150712
71664
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlHABC_900512_900512
N/A
N/A
Control
No previous psychiatric history
87252583
87306781
54199
GRCh38
Deletion
No
handrigan_13_ASD/DD/ID_discovery_controls-control10
NA
NA
Control
Control from PopGen
87761248
87775234
13987
GRCh38
Deletion
No
handrigan_13_ASD/DD/ID_discovery_controls-control11
NA
NA
Control
Control from WTCCC
87782986
87809308
26323
GRCh38
Deletion
No
handrigan_13_ASD/DD/ID_discovery_controls-control12
NA
NA
Control
Control from WTCCC
87803234
87936350
133117
GRCh38
Deletion
No
handrigan_13_ASD/DD/ID_discovery_controls-control13
NA
NA
Control
Control from WTCCC
87911850
87994524
82675
GRCh38
Deletion
No
handrigan_13_ASD/DD/ID_discovery_controls-control14
NA
NA
Control
Control from WTCCC
87934636
87946454
11819
GRCh38
Deletion
No
handrigan_13_ASD/DD/ID_discovery_controls-control15
NA
NA
Control
Control from WTCCC
87934636
87946454
11819
GRCh38
Deletion
No
handrigan_13_ASD/DD/ID_discovery_controls-control16
NA
NA
Control
Control from WTCCC
87934636
87946454
11819
GRCh38
Deletion
No
handrigan_13_ASD/DD/ID_discovery_controls-control17
NA
NA
Control
Control from Ottawa Heart Institute
88154061
88257950
103890
GRCh38
Deletion
No
handrigan_13_ASD/DD/ID_discovery_controls-control2
NA
NA
Control
Control from WTCCC
87081681
87150712
69032
GRCh38
Deletion
No
handrigan_13_ASD/DD/ID_discovery_controls-control3
NA
NA
Control
Control from HapMap
87225163
87289380
64218
GRCh38
Deletion
No
handrigan_13_ASD/DD/ID_discovery_controls-control4
NA
NA
Control
Control from WTCCC
87249802
87258164
8363
GRCh38
Deletion
No
handrigan_13_ASD/DD/ID_discovery_controls-control5
NA
NA
Control
Control from HapMap
87368138
87376657
8520
GRCh38
Deletion
No
handrigan_13_ASD/DD/ID_discovery_controls-control6
NA
NA
Control
Control from WTCCC
87650342
87655955
5614
GRCh38
Deletion
No
handrigan_13_ASD/DD/ID_discovery_controls-control7
NA
NA
Control
Control from WTCCC
87736098
87825570
89473
GRCh38
Deletion
No
handrigan_13_ASD/DD/ID_discovery_controls-control8
NA
NA
Control
Control from WTCCC
87740593
87799862
59270
GRCh38
Deletion
No
handrigan_13_ASD/DD/ID_discovery_controls-control9
NA
NA
Control
Control from WTCCC
87754444
87775234
20791
GRCh38
Deletion
No
krumm_15_ASD_discovery_controls-control14316.s1
N/A
Male
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
88520946
88586684
65739
GRCh38
Duplication
Yes
sanders_11_ASD_discovery_controls-11323.s1
6.3
F
Control (matched sibling)
NA
NA
88075621
88081457
5837
GRCh38
Duplication
No
Cases
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
dharmadhikari_14_ASD/ID_discovery_cases-case2
Unknown
Possible multi-generational (father with bipolar disorder)
Unknown
ZCCHC14
engchuan_15_ASD_discovery_cases-case21055_1
Unknown
ZFPM1,ZC3H18
engchuan_15_ASD_discovery_cases-case4522_100
Unknown
KLHDC4,JPH3
fitzgerald_14_ASD/DD/ID_discovery_cases-DECIPHER260745
De novo
Simplex
Segregated
ZNF469,MIR5189,FBXO31,MAP1LC3B,KLHDC4,SLC7A5,MIR6775,CA5A,LINC02182,C16orf95,ZCCHC14,JPH3,BANP,ZFPM1,ZC3H18
handrigan_13_ASD/DD/ID_discovery_cases-patient10
De novo
Unknown
Unknown
FBXO31,MAP1LC3B,KLHDC4,C16orf95,ZCCHC14,JPH3
handrigan_13_ASD/DD/ID_discovery_cases-patient11
Unknown
Unknown
Unknown
FBXO31,MAP1LC3B,KLHDC4,SLC7A5,MIR6775,C16orf95,ZCCHC14,JPH3
handrigan_13_ASD/DD/ID_discovery_cases-patient12
Paternal
Unknown
Unknown
FBXO31,MAP1LC3B,C16orf95,ZCCHC14
handrigan_13_ASD/DD/ID_discovery_cases-patient13
Unknown
Unknown
Unknown
FBXO31,MAP1LC3B,KLHDC4,ZCCHC14,JPH3
handrigan_13_ASD/DD/ID_discovery_cases-patient14
Unknown
Unknown
Unknown
KLHDC4,SLC7A5,MIR6775,JPH3
handrigan_13_ASD/DD/ID_discovery_cases-patient15
Unknown
Unknown
Unknown
FBXO31,MAP1LC3B,ZCCHC14
handrigan_13_ASD/DD/ID_discovery_cases-patient16
Maternal
Unknown
Unknown
FBXO31,MAP1LC3B,KLHDC4,SLC7A5,MIR6775,CA5A,ZCCHC14,JPH3,BANP
handrigan_13_ASD/DD/ID_discovery_cases-patient17
Maternal
Unknown
Unknown
FBXO31,MAP1LC3B,KLHDC4,SLC7A5,MIR6775,CA5A,ZCCHC14,JPH3,BANP
handrigan_13_ASD/DD/ID_discovery_cases-patient18
Unknown
Unknown
Unknown
FBXO31,MAP1LC3B,ZCCHC14
handrigan_13_ASD/DD/ID_discovery_cases-patient19
Unknown
Unknown
Unknown
FBXO31,MAP1LC3B,ZCCHC14
handrigan_13_ASD/DD/ID_discovery_cases-patient2
Maternal mosaic
Unknown
Unknown
FBXO31,MAP1LC3B,C16orf95,ZCCHC14
handrigan_13_ASD/DD/ID_discovery_cases-patient20
Unknown
Unknown
Unknown
MAP1LC3B,ZCCHC14
handrigan_13_ASD/DD/ID_discovery_cases-patient26
Unknown
Unknown
Unknown
C16orf95
handrigan_13_ASD/DD/ID_discovery_cases-patient27
Unknown
Unknown
Unknown
FBXO31,MAP1LC3B,C16orf95
handrigan_13_ASD/DD/ID_discovery_cases-patient28
Unknown
Unknown
Unknown
C16orf95
handrigan_13_ASD/DD/ID_discovery_cases-patient29
Paternal
Unknown
Unknown
KLHDC4,JPH3
handrigan_13_ASD/DD/ID_discovery_cases-patient3
De novo
Unknown
Unknown
FBXO31,MAP1LC3B,C16orf95,ZCCHC14
handrigan_13_ASD/DD/ID_discovery_cases-patient32
Unknown
Unknown
Unknown
KLHDC4,SLC7A5,MIR6775,ZCCHC14,JPH3
handrigan_13_ASD/DD/ID_discovery_cases-patient33
Unknown
Unknown
Unknown
KLHDC4,JPH3
handrigan_13_ASD/DD/ID_discovery_cases-patient35
Unknown
Unknown
Unknown
KLHDC4,SLC7A5,MIR6775,CA5A,ZCCHC14,JPH3,BANP
handrigan_13_ASD/DD/ID_discovery_cases-patient4
Unknown
Unknown
Unknown
FBXO31,MAP1LC3B,ZCCHC14
handrigan_13_ASD/DD/ID_discovery_cases-patient5
Unknown
Unknown
Unknown
MAP1LC3B,ZCCHC14
handrigan_13_ASD/DD/ID_discovery_cases-patient7
Unknown
Unknown
Unknown
FBXO31,MAP1LC3B,KLHDC4,C16orf95,ZCCHC14,JPH3
handrigan_13_ASD/DD/ID_discovery_cases-patient9
Unknown
Unknown
Unknown
LINC02181,FBXO31,MAP1LC3B,KLHDC4,C16orf95,ZCCHC14,JPH3
han_22_ASD/DD/ID_discovery_cases-caseF10
Unknown
KLHDC4,JPH3,SLC7A5
krumm_15_ASD_discovery_cases-case13638.p1
1M-Duov3
Maternal
Simplex
Segregated
KLHDC4,SLC7A5,MIR6775,CA5A,BANP
krumm_15_ASD_discovery_cases-case14316.p1
Omni2.5-4v1
Paternal
Simplex
Not segregated (CNV in unaffected sibling)
ZFPM1,ZC3H18
lintas_17_ASD_discovery_cases-case16.2
Validation by visual inspection, RT-PCR, or PCR
De novo
Multiplex
Not segregated (CNV only observed in 1/2 affected siblings)
ZFPM1
nava_13_ASD_discovery_cases-Fam1057Proband9942
Maternal
Simplex
Unknown
JPH3
prasad_12_ASD_discovery_cases-case45751
Unknown
Multiplex
Unknown
JPH3
prasad_12_ASD_discovery_cases-case67839
Unknown
Unknown
Unknown
0 genes
prasad_12_ASD_discovery_cases-case68711
qPCR
Maternal
Unknown
Unknown
KLHDC4
prasad_12_ASD_discovery_cases-case82503
Unknown
Unknown
Unknown
CA5A
prasad_12_ASD_discovery_cases-case92812
Unknown
Unknown
Unknown
JPH3
prasad_12_ASD_discovery_cases-case99746
Unknown
Unknown
Unknown
0 genes
prasad_12_ASD_discovery_cases-caseMM0196-4
Unknown
Unknown
Unknown
KLHDC4
sanders_11_ASD_discovery_cases-11523.p1
Unknown
Simplex (quad-proband matched)
Segregated
ZCCHC14
sanders_11_ASD_discovery_cases-12275.p1
Paternal
Simplex (quad-proband matched)
Segregated
JPH3
sanders_11_ASD_discovery_cases-12306.p1
Paternal
Simplex (trio)
NA
MIR5189,ZFPM1
sanders_11_ASD_discovery_cases-12306.p1
Paternal
Simplex (trio)
NA
Controls
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
engchuan_15_ASD_discovery_controls-controlHABC_900134_900134
Unknown
C16orf95
engchuan_15_ASD_discovery_controls-controlHABC_900512_900512
Unknown
C16orf95
handrigan_13_ASD/DD/ID_discovery_controls-control10
Unknown
KLHDC4
handrigan_13_ASD/DD/ID_discovery_controls-control11
Unknown
handrigan_13_ASD/DD/ID_discovery_controls-control12
Unknown
SLC7A5,MIR6775,CA5A
handrigan_13_ASD/DD/ID_discovery_controls-control13
Unknown
CA5A,BANP
handrigan_13_ASD/DD/ID_discovery_controls-control14
Unknown
CA5A
handrigan_13_ASD/DD/ID_discovery_controls-control15
Unknown
CA5A
handrigan_13_ASD/DD/ID_discovery_controls-control16
Unknown
CA5A
handrigan_13_ASD/DD/ID_discovery_controls-control17
Unknown
LINC02182
handrigan_13_ASD/DD/ID_discovery_controls-control2
Unknown
C16orf95
handrigan_13_ASD/DD/ID_discovery_controls-control3
Unknown
C16orf95
handrigan_13_ASD/DD/ID_discovery_controls-control4
Unknown
C16orf95
handrigan_13_ASD/DD/ID_discovery_controls-control5
Unknown
FBXO31
handrigan_13_ASD/DD/ID_discovery_controls-control6
Unknown
JPH3
handrigan_13_ASD/DD/ID_discovery_controls-control7
Unknown
KLHDC4
handrigan_13_ASD/DD/ID_discovery_controls-control8
Unknown
KLHDC4
handrigan_13_ASD/DD/ID_discovery_controls-control9
Unknown
KLHDC4
krumm_15_ASD_discovery_controls-control14316.s1
Omni2.5-4v1
Paternal
ZFPM1,ZC3H18
sanders_11_ASD_discovery_controls-11323.s1
Maternal
Simplex (quad)
NA
BANP
No Animal Model Data Available