5q35.2CNV Type: Deletion-Duplication
Largest CNV size: 286384 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
Detection of clinically relevant copy-number variants by exome sequencing in a large cohort of genetic disorders.
Deletion
Minor Reports
Title
Author, Year
Report Class
CNV Type
Multiple recurrent de novo CNVs, including duplications of the 7q11.23 Williams syndrome region, are strongly associated with autism.
Deletion-Duplication
Relative burden of large CNVs on a range of neurodevelopmental phenotypes.
Deletion
A discovery resource of rare copy number variations in individuals with autism spectrum disorder.
Deletion
Rare exonic deletions implicate the synaptic organizer Gephyrin (GPHN) in risk for autism, schizophrenia and seizures.
Deletion
Global increases in both common and rare copy number load associated with autism.
Duplication
Transmission disequilibrium of small CNVs in simplex autism.
Deletion-Duplication
Identification of small exonic CNV from whole-exome sequence data and application to autism spectrum disorder.
Duplication
Performance of case-control rare copy number variation annotation in classification of autism.
Deletion-Duplication
RYR2, PTDSS1 and AREG genes are implicated in a Lebanese population-based study of copy number variation in autism.
Deletion
Rare Inherited and De Novo CNVs Reveal Complex Contributions to ASD Risk in Multiplex Families.
Deletion
Paternally inherited cis-regulatory structural variants are associated with autism.
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
831
1
0
1
engchuan_15_ASD_discovery_cases
Samples from the Autism Genome Project (AGP)
1892
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
N/A
85.78% Male
157088
1
3
4
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.
104848
2
0
2
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
100564
0
1
1
itsara_10_ASD_discovery_cases
ASD probands from multiplex (n=1270) and simplex (n=60) families from AGRE collection
1330
ASD: Autism, broad spectrum autism (Spectrum), or NQA (not quite autism)
1866691
1
0
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
2093574
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
3491
1
1
2
krumm_15_ASD_discovery_cases
Probands from the Simons Simplex Collection
2377
Diagnosis of ASD
N/A
N/A
367460
0
4
4
leppa_16_ASD_discovery_cases
Children affected with ASD from 1,464 families from the Autism Genetic Resource Exchange (AGRE)
1764
Diagnosis according to ADOS and ADI-R
N/A
N/A
1867000
1
0
1
lionel_13_ASD/SCZ/EP_discovery_cases
Patient cohort composed of 1158 Canadian ASD patients, 72 Austrian ASD patients, 450 Canadian schizophrenia patients, and a clinical dataset of 3704 individuals with primary diagnosis of ASD and/or seizure disorder referred for clinical microarray testing at the Mayo Clinic cytogenetics laboratory.
5384
ASD (n=1230), schizophrenia (n=450), and ASD and/or seizure disorder (n=3704). Canadian and Austrian ASD patients met criteria for ASD diagnosis based on ADI-R and/or ADOS.
NA
NA
33407
1
0
1
pfundt_16_NDD_discovery_cases
Subset of a cohort of 2,603 patients affected by genetic disorders for which exome seqeuncing was performed in a diagnostic setting
1215
Neurodevelopmental disorders
N/A
N/A
1577243
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)
24192
0
3
3
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
7983
1
0
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
286384
15
5
20
soueid_16_ASD_discovery_cases
Autistic children; 37/41 from 35 fully analyzed families (33 simplex, 2 multiplex)
41
All cases fulfilled DSM-V criteria for autism
Range, 3-18 yrs.
92.68% Male
201000
1
0
1
soueid_16_DD/ID_discovery_cases
Individuals referred to clinical neurogenetics service with non-syndromic developmental delay and intellectual disabilities (DD/ID) or rare neurological syndromes
35
Cases present with non-syndromic developmental delay and intellectual disabilities (DD/ID) or rare neurological syndromes
N/A
N/A
0
0
0
0
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
103055
1
4
5
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.
104848
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
154894
1
1
2
kaminsky_11_DD/ID/ASD_discovery_controls
Controls from the International Standards for Cytogenomic Arrays (ISCA) consortium
10118
Controls
NA
NA
NA
NA
NA
NA
krumm_13_ASD_discovery_controls
Unaffected siblings of ASD probands from quad families ascertained as part of the Simons Simplex Collection (SSC); CNVs detected using data from four previously published exome sequencing studies (O'Roak et al., 2011; Iossifov et al., 2012; O'Roak et al., 2012; Sanders et al., 2012)
411
Control (unaffected siblings of ASD probands). Social Responsiveness Scale (SRS) used as a quantitative measure of social deficits
N/A
46.47% Male
4190
1
2
3
krumm_15_ASD_discovery_controls
Unaffected siblings from quad families from the Simons Simplex Collection
1786
Control
N/A
N/A
361785
0
4
4
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)
0
0
0
0
prasad_12_ASD_discovery_controls
PDx controls [1000 DNA samples from reportedly healthy donors (50.2% male) from BioServe (Beltsville, MD)] and 4139 in-house controls previously reported in Krawcak et al. 2006, Stewart et al. 2009, and Bierut et al. 2010. CNVs identified in controls were used to define rare ASD-specific CNVs.
5139
Control
NA
NA (PDx controls 50.2% male)
7983
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.
114136
8
4
12
soueid_16_ASD_discovery_controls
Control cohort of normal participants
37
Control
N/A
51.35% Male
0
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
None
engchuan_15_ASD_discovery_cases
Caucasian
Solid phase hybridization
Illumina 1M
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_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
itsara_10_ASD_discovery_cases
Solid phase hybridization
Illumina HumanHap550v1 and v3 SNP array
HMM
Illumina GenomeStudio
aCGH (custom NimbleGen 12 X 135)
kaminsky_11_DD/ID/ASD_discovery_cases
NA
aCGH
Agilent 44K, Agilent 105K
Feature Extraction, DNA Analytics
FISH, qPCR, MLPA, aCGH, standard G-banded chromosome analysis
krumm_13_ASD_discovery_cases
N/A
WES
Whole exome sequencing platforms used in four recent publications (O'Roak et al., 2011; Sanders et al., 2012; O'Roak et al., 2012, and Iossifov et al., 2012)
DNACopy, CGHCall
CoNIFER
None
krumm_15_ASD_discovery_cases
N/A
WES
CoNIFER, XHMM
Solid phase hybridization (Illumina 1M, 1 M Duo, or Omni 2.5)
leppa_16_ASD_discovery_cases
N/A
Solid phase hybridization
Illumina 550v1 and 550v3, Omni-1.0-B and -H, Omni 2.5
PennCNV, QuantiSNP, GNOSIS
GenomeStudio, CNVision
None
lionel_13_ASD/SCZ/EP_discovery_cases
NA
aCGH, array SNP
Agilent ISCA 44K, Agilent 180K, Affymetrix 6.0
Agilent DNA Analytics, Birdsuite, iPattern, Affymetrix Genotyping Console
None
pfundt_16_NDD_discovery_cases
N/A
WES
Solid5500xl, IlluminaHiSeq2000
CoNIFER
Array SNP (Affymetrix CytoScan HD)
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
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
soueid_16_ASD_discovery_cases
Lebanon
Array SNP
Affymetrix 2.7M, Affymetrix CytoScan
Affymetrix ChAS
None
soueid_16_DD/ID_discovery_cases
Lebanon
Array SNP
Affymetrix 2.7M, Affymetrix CytoScan
Affymetrix ChAS
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
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)
poultney_13_ASD_discovery_controls
European
WES
Agilent SureSelect Human All Exon v.2
XHMM
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
soueid_16_ASD_discovery_controls
Lebanon
Array SNP
Affymetrix 2.7M, Affymetrix CytoScan
Affymetrix ChAS
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-caseMT_183.4
N/A
M
ASD
Case from REACH cohort
173976151
173976982
832
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case13135_1523
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
176144148
176202386
58239
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case13159_1763
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
174727515
174780969
53455
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case14412_5210
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
176119652
176192252
72601
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case4030_1
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
176103000
176260088
157089
GRCh38
Duplication
No
girirajan_11_ASD_discovery_cases-Si118
11
M
Autism
ADOS score: 8. Vineland composite score: 63.
Mild mental retardation/intellectual disability. Full-scale IQ, 68; Verbal IQ, 56; Non-verbal IQ, 76.
176119984
176224832
104849
GRCh38
Deletion
No
girirajan_11_ASD_discovery_cases-Si191
12
M
Autism
ADOS score: 7. Vineland composite score: 76.
No mental retardation/intellectual disability. Full-scale IQ, 102; Verbal IQ, 108; Non-verbal IQ, 102.
176145055
176224832
79778
GRCh38
Deletion
No
girirajan_13b_ASD_discovery_cases-21707108167
N/A
N/A
Autism
Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Asian
N/A
176119984
176220548
100565
GRCh38
Duplication
No
itsara_10_ASD_discovery_cases-HI2459
NA
NA
Broad spectrum autism (Spectrum)
NA
NA
176132836
177999529
1866694
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004044
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
172961091
175054665
2093575
GRCh38
Deletion
Yes
krumm_13_ASD_discovery_cases-case13504.p1
N/A
M
ASD
ASD proband from SSC quad family 13504. SRS score of 77.
Full-scale IQ (FSIQ) score of 64.
176887450
176890941
3492
GRCh38
Duplication
No (not tested)
krumm_13_ASD_discovery_cases-case13922.p1
N/A
F
ASD
ASD proband from SSC quad family 13922. SRS score of 90.
Full-scale IQ (FSIQ) score of 100.
176565352
176568817
3466
GRCh38
Deletion
No (not tested)
krumm_15_ASD_discovery_cases-case13504.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
176887001
176891550
4550
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_cases-case14253.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
173608228
173613257
5030
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_cases-case14256.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
176887001
176891550
4550
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_cases-case14268.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
176289354
176656816
367463
GRCh38
Duplication
Yes
leppa_16_ASD_discovery_cases-AU0972302
N/A
N/A
ASD
SRS total score 57
176132836
177999529
1866694
GRCh38
Deletion
No
lionel_13_ASD/SCZ/EP_discovery_cases-proband5
24 yrs.
M
Schizophrenia
Diagnosis of chronic schizophrenia confirmed through use of detailed psychiatric assessment, including use of a modified version of Strructed Clinical Interviews for DSM-III-R for Axis I disorder. Developmental milestones: no evidence of developmental delay. Behavioral/psychiatric evaluation: increasing anxiety, preoccupation, and paranoia at 23 years (responded well ti a few months of treatment with chloropromazine); admitted to hospital for schizophrenia at 24 years of age; improved with electroconvulsive therapy and was discharged for two months; following two additional hospitalizations, case has been relatively stable on standard antipsychotic medication regiment with an adjuvant antidepressant for many years. no evidence of autistic features. Epilepsy/seizures: no history of seizures. Dysmorphic features: no significant dysmorphology. Family history: non-consanguineous parents; no known history of neuropsychiatric illness or seizures in parents or siblings; significant history of schizophrenia in paternal extended family.
Full Scale IQ of 92 (Wechsler Adult Intelligence Scale/WAIS) at 24 years of age.
174887596
174921002
33407
GRCh38
Deletion
No
pfundt_16_NDD_discovery_cases-case31
N/A
N/A
NDD
Disease cohort: neurodevelopmental disorder. Description: MSX2 deletion
174107313
175684556
1577244
GRCh38
Deletion
Yes
poultney_13_ASD_discovery_cases-case99HI0671A
N/A
M
ASD
ASD case from AGRE (AGRE ID AU033403; NDAR ID NDAR_INVFP134WLL)
176388233
176389499
1267
GRCh38
Duplication
No
poultney_13_ASD_discovery_cases-case99HI0802A
N/A
M
ASD
ASD case from AGRE (AGRE ID AU055504; NDAR ID NDAR_INVXM069XZB)
176386838
176392947
6110
GRCh38
Duplication
No
poultney_13_ASD_discovery_cases-caseHI4457
N/A
M
ASD
ASD case from AGRE (AGRE ID AU1070302; NDAR ID NDAR_INVRN376JE5)
176289654
176313845
24192
GRCh38
Duplication
No
prasad_12_ASD_discovery_cases-case59794L
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
172381794
172389776
7983
Unknown
Deletion
No
sanders_11_ASD_discovery_cases-11033.p1
6.8
M
Autism
NA
Full-scale IQ, 59; non-verbal IQ, 69; verbal IQ, 56
176128965
176235863
106899
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11297.p1
12.8
M
Autism
NA
Full-scale IQ, 87; non-verbal IQ, 98; verbal IQ 73
173000647
173010638
9992
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11453.p1
8.8
M
ASD
NA
Full-scale IQ, 111; non-verbal IQ, 111; verbal IQ, 109
173000647
173010638
9992
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11543.p1
16.9
M
Autism
NA
Full-scale IQ, 63; non-verbal IQ, 81; verbal IQ, 31
174162731
174167086
4356
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11556.p1
9.7
M
Autism
NA
Full-scale IQ, 102; non-verbal IQ, 102; verbal IQ, 108
176132836
176192510
59675
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11680.p1
8
M
Autism
NA
Full-scale IQ, 71; non-verbal IQ, 82; verbal IQ, 54
175817031
176103415
286385
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11765.p1
11.2
M
Autism
NA
Full-scale IQ, 34; non-verbal IQ, 39; verbal IQ, 24
176782413
176785289
2877
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11825.p1
6.6
M
Autism
NA
Full-scale IQ, 131; non-verbal IQ, 135; verbal IQ, 115
173000647
173010638
9992
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11835.p1
6.3
M
Autism
NA
Full-scale IQ, 85; non-verbal IQ, 92; verbal IQ, 77
172978030
172980719
2690
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11909.p1
5.7
M
Autism
NA
Full-scale IQ, 101; non-verbal IQ, 93; verbal IQ, 115
174424521
174427934
3414
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12117.p1
9.6
M
Autism
NA
Full-scale IQ, 68; non-verbal IQ, 76; verbal IQ, 56
176132836
176235863
103028
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
173178124
173186025
7902
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12478.p1
4.8
M
Autism
NA
Full-scale IQ, 69; non-verbal IQ, 74; verbal IQ, 68
176144148
176202386
58239
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12521.p1
7.2
F
Autism
NA
Full-scale IQ, 78; non-verbal IQ, 78; verbal IQ, 83
172978894
172991340
12447
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12555.p1
16.9
M
Autism
NA
Full-scale IQ, 119; non-verbal IQ, 113; verbal IQ, 126
172975683
172980719
5037
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12558.p1
10.5
M
Autism
NA
Full-scale IQ, 81; non-verbal IQ, 95; verbal IQ, 51
176132836
176226250
93415
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12587.p1
6.4
M
Autism
NA
Full-scale IQ, 97; non-verbal IQ, 98; verbal IQ, 98
176144148
176171008
26861
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12798.p1
4.8
M
Autism
NA
Full-scale IQ, 67; non-verbal IQ, 73; verbal IQ, 65
174162731
174167086
4356
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12939.p1
12.8
M
Autism
NA
Full-scale IQ, 20; non-verbal IQ, 28; verbal IQ, 11
174162731
174167086
4356
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-13097.p1
9.9
M
Autism
NA
Full-scale IQ, 34; non-verbal IQ, 37; verbal IQ, 27
176144148
176211366
67219
GRCh38
Duplication
No
soueid_16_ASD_discovery_cases-caseBAK42
N/A
M
Autism
Case fulfilled DSM-V criteria for autism; no other information available
176011042
176211614
200573
GRCh38
Deletion
No
Controls
Patient ID
Author, Year
Age
Gender
Primary Diagnosis
Clinical Profile
Cognitive Profile
CNV Start
CNV End
CNV Size
Genome Build
Type Method
Validation
engchuan_15_ASD_discovery_controls-control110036025252_
N/A
N/A
Control
No previous psychiatric history
176132836
176202386
69551
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlHABC_900222_900222
N/A
N/A
Control
No previous psychiatric history
176132836
176192510
59675
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlHABC_900451_900451
N/A
N/A
Control
No previous psychiatric history
175647641
175750696
103056
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlHABC_900801_900801
N/A
N/A
Control
No previous psychiatric history
176135117
176211366
76250
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlHABC_902744_902744
N/A
N/A
Control
No previous psychiatric history
176153163
176185174
32012
GRCh38
Duplication
No
girirajan_13b_ASD_discovery_controls-2105102564
N/A
N/A
Control
Ethnicity: Mixed Race
N/A
177118677
177197728
79052
GRCh38
Deletion
No
girirajan_13b_ASD_discovery_controls-9409110993
N/A
N/A
Control
Ethnicity: Caucasian
N/A
176169795
176324689
154895
GRCh38
Duplication
No
krumm_13_ASD_discovery_controls-control12906.s1
N/A
F
Control
Unaffected sibling from SSC quad family 12906. SRS score of 40.
176887001
176891191
4191
GRCh38
Duplication
No (not tested)
krumm_13_ASD_discovery_controls-control13504.s1
N/A
F
Control
Unaffected sibling from SSC quad family 13504. SRS score of 43.
176887450
176890941
3492
GRCh38
Duplication
No (not tested)
krumm_13_ASD_discovery_controls-control13922.s1
N/A
M
Control
Unaffected sibling from SSC quad family 13922. SRS score of 41.
176565352
176568817
3466
GRCh38
Deletion
No (not tested)
krumm_15_ASD_discovery_controls-control11869.s1
N/A
Female
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
173608228
173613257
5030
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_controls-control13082.s1
N/A
Male
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
176887001
176891550
4550
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_controls-control13504.s1
N/A
Female
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
176887001
176891191
4191
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_controls-control14268.s1
N/A
Female
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
176295029
176656816
361788
GRCh38
Duplication
Yes
sanders_11_ASD_discovery_controls-11033.s1
6.8
F
Control (matched sibling)
NA
NA
176103000
176202386
99387
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11524.s1
17.3
M
Control (matched sibling)
NA
NA
175135583
175136789
1207
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11556.s1
7.3
F
Control (matched sibling)
NA
NA
176128965
176243101
114137
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11765.s1
7.8
F
Control (matched sibling)
NA
NA
176782413
176785289
2877
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11835.s1
8
M
Control (matched sibling)
NA
NA
172976525
172980719
4195
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12117.s1
12
F
Control (matched sibling)
NA
NA
176132836
176226250
93415
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12434.s1
8.8
F
Control (matched sibling)
NA
NA
174162731
174167086
4356
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12478.s1
14.5
M
Control (matched sibling)
NA
NA
176144148
176202386
58239
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-12555.s1
18.9
F
Control (matched sibling)
NA
NA
172976525
172980719
4195
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12578.s1
8.8
F
Control (matched sibling)
NA
NA
173000647
173010638
9992
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-13082.s1
4
M
Control (matched sibling)
NA
NA
176887433
176888298
866
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-13097.s1
12.4
F
Control (matched sibling)
NA
NA
176144148
176211366
67219
GRCh38
Duplication
No
Cases
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
brandler_18_ASD_discovery_cases-caseMT_183.4
Not available
Unknown
C5orf47
engchuan_15_ASD_discovery_cases-case13135_1523
Unknown
engchuan_15_ASD_discovery_cases-case13159_1763
Unknown
MSX2,MIR4634
engchuan_15_ASD_discovery_cases-case14412_5210
Unknown
engchuan_15_ASD_discovery_cases-case4030_1
Unknown
FAM153B,SIMC1
girirajan_11_ASD_discovery_cases-Si118
Paternal
Simplex
girirajan_11_ASD_discovery_cases-Si191
Maternal
Simplex
girirajan_13b_ASD_discovery_cases-21707108167
Unknown
Unknown
Unknown
itsara_10_ASD_discovery_cases-HI2459
aCGH (custom NimbleGen 12 X 135)
De novo
Multiplex
MIR1271,NOP16,HIGD2A,RN7SL684P,SNCB,MIR4281,LINC01574,ZNF346-IT1,PRMT1P1,RAB24,PRELID1,RGS14,PFN3,DDX41,TMED9,OR1X5P,SUDS3P1,BRCC3P1,KIAA1191,ARL10,CLTB,FAF2,RNF44,GPRIN1,EIF4E1B,TSPAN17,HK3,FGFR4,MXD3,SLC34A1,F12,GRK6,PRR7-AS1,PRR7,PDLIM7,DOK3,FAM193B,SIMC1,CDHR2,UNC5A,UIMC1,ZNF346,LMAN2,DBN1,B4GALT7,FAM153A,PROP1,NSD1
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004044
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
De novo
Unknown
Unknown
SNORA74B,CDC42P5,RPL7AP33,NKX2-5,RNA5SP200,MIR8056,RNU6-500P,BOD1,RPL12P22,GAPDHP71,SUMO2P6,HIGD1AP3,MSX2,NIFKP2,RPL26L1,CREBRF,STC2,LINC01863,LINC01942,LINC01484,C5orf47,MIR4634,BNIP1,LINC01485,CPEB4,LINC01411,LINC01951,ATP6V0E1,NSG2
krumm_13_ASD_discovery_cases-case13504.p1
Maternal
Simplex
Not segregated
HK3
krumm_13_ASD_discovery_cases-case13922.p1
Maternal
Simplex
Not segregated
CDHR2
krumm_15_ASD_discovery_cases-case13504.p1
1M-Duov3
Maternal
Simplex
Not segregated (CNV in unaffected sibling)
HK3
krumm_15_ASD_discovery_cases-case14253.p1
Omni2.5-4v1
Paternal
Simplex
Segregated
BOD1
krumm_15_ASD_discovery_cases-case14256.p1
Omni2.5-4v1
Paternal
Simplex
Segregated
HK3
krumm_15_ASD_discovery_cases-case14268.p1
Omni2.5-4v1
Paternal
Simplex
Not segregated (CNV in unaffected sibling)
MIR1271,NOP16,HIGD2A,RN7SL684P,SNCB,MIR4281,BRCC3P1,KIAA1191,ARL10,CLTB,FAF2,RNF44,GPRIN1,EIF4E1B,TSPAN17,SIMC1,CDHR2
leppa_16_ASD_discovery_cases-AU0972302
qPCR; technical failure
De novo
Multiplex
Not segregated (CNV not present in affected sibling)
MIR1271,NOP16,HIGD2A,RN7SL684P,SNCB,MIR4281,LINC01574,ZNF346-IT1,PRMT1P1,RAB24,PRELID1,RGS14,PFN3,DDX41,TMED9,OR1X5P,SUDS3P1,BRCC3P1,KIAA1191,ARL10,CLTB,FAF2,RNF44,GPRIN1,EIF4E1B,TSPAN17,HK3,FGFR4,MXD3,SLC34A1,F12,GRK6,PRR7-AS1,PRR7,PDLIM7,DOK3,FAM193B,SIMC1,CDHR2,UNC5A,UIMC1,ZNF346,LMAN2,DBN1,B4GALT7,FAM153A,PROP1,NSD1
lionel_13_ASD/SCZ/EP_discovery_cases-proband5
Unknown
Simplex
Unknown
LINC01951
pfundt_16_NDD_discovery_cases-case31
Array SNP (Affymetrix CytoScan HD)
GAPDHP71,SUMO2P6,HIGD1AP3,MSX2,NIFKP2,ARL2BPP6,DRD1,RN7SKP148,MIR4634,HRH2,LINC01411,LINC01951,SFXN1,NSG2
poultney_13_ASD_discovery_cases-case99HI0671A
Unknown
Unknown (likely multiplex/AGRE)
Unknown
NOP16,HIGD2A,ARL10
poultney_13_ASD_discovery_cases-case99HI0802A
Unknown
Unknown (likely multiplex/AGRE)
Unknown
NOP16,HIGD2A,ARL10,CLTB
poultney_13_ASD_discovery_cases-caseHI4457
Unknown
Unknown (likely multiplex/AGRE)
Unknown
BRCC3P1,SIMC1
prasad_12_ASD_discovery_cases-case59794L
Unknown
Unknown
Unknown
ATP6V0E1
sanders_11_ASD_discovery_cases-11033.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11297.p1
Unknown
Simplex (trio)
NA
ATP6V0E1
sanders_11_ASD_discovery_cases-11453.p1
Unknown
Simplex (quad-proband matched)
Segregated
ATP6V0E1
sanders_11_ASD_discovery_cases-11543.p1
Unknown
Simplex (quad-proband matched)
Not segregated
NSG2
sanders_11_ASD_discovery_cases-11556.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11680.p1
Maternal
Simplex (trio)
NA
OR1X1P,CPLX2,FAM153B,THOC3
sanders_11_ASD_discovery_cases-11765.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11825.p1
Maternal
Simplex (trio)
NA
ATP6V0E1
sanders_11_ASD_discovery_cases-11835.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11909.p1
Maternal
Simplex (quad-proband matched)
Not segregated
LINC01411
sanders_11_ASD_discovery_cases-12117.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12137.p1
Maternal
Simplex (trio)
NA
sanders_11_ASD_discovery_cases-12478.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12521.p1
Unknown
Simplex (quad-proband matched)
Not segregated
ATP6V0E1
sanders_11_ASD_discovery_cases-12555.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12558.p1
Paternal
Simplex (trio)
NA
sanders_11_ASD_discovery_cases-12587.p1
Paternal
Simplex (trio)
NA
sanders_11_ASD_discovery_cases-12798.p1
Paternal
Simplex (quad-proband matched)
Not segregated
NSG2
sanders_11_ASD_discovery_cases-12939.p1
Unknown
Simplex (quad-proband matched)
Not segregated
NSG2
sanders_11_ASD_discovery_cases-13097.p1
Maternal
Simplex (quad-proband matched)
Not segregated
soueid_16_ASD_discovery_cases-caseBAK42
Paternal
Simplex
FAM153B,THOC3
Controls
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
engchuan_15_ASD_discovery_controls-control110036025252_
Unknown
engchuan_15_ASD_discovery_controls-controlHABC_900222_900222
Unknown
engchuan_15_ASD_discovery_controls-controlHABC_900451_900451
Unknown
RNU6-226P,HRH2
engchuan_15_ASD_discovery_controls-controlHABC_900801_900801
Unknown
engchuan_15_ASD_discovery_controls-controlHABC_902744_902744
Unknown
girirajan_13b_ASD_discovery_controls-2105102564
Unknown
NSD1
girirajan_13b_ASD_discovery_controls-9409110993
Unknown
BRCC3P1,SIMC1
krumm_13_ASD_discovery_controls-control12906.s1
Maternal
Simplex
HK3
krumm_13_ASD_discovery_controls-control13504.s1
Maternal
Simplex
HK3
krumm_13_ASD_discovery_controls-control13922.s1
Maternal
Simplex
CDHR2
krumm_15_ASD_discovery_controls-control11869.s1
Illumina 1MDuo
Paternal
BOD1
krumm_15_ASD_discovery_controls-control13082.s1
Illumina 1MDuo
Maternal
HK3
krumm_15_ASD_discovery_controls-control13504.s1
1M-Duov3
Maternal
HK3
krumm_15_ASD_discovery_controls-control14268.s1
Omni2.5-4v1
Paternal
MIR1271,NOP16,HIGD2A,RN7SL684P,SNCB,MIR4281,BRCC3P1,KIAA1191,ARL10,CLTB,FAF2,RNF44,GPRIN1,EIF4E1B,TSPAN17,SIMC1,CDHR2
sanders_11_ASD_discovery_controls-11033.s1
Paternal
Simplex (quad)
NA
FAM153B
sanders_11_ASD_discovery_controls-11524.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11556.s1
Maternal
Simplex (quad)
NA
SIMC1
sanders_11_ASD_discovery_controls-11765.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11835.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12117.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12434.s1
Unknown
Simplex (quad)
NA
NSG2
sanders_11_ASD_discovery_controls-12478.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12555.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12578.s1
Unknown
Simplex (quad)
NA
ATP6V0E1
sanders_11_ASD_discovery_controls-13082.s1
Maternal
Simplex (quad)
NA
HK3
sanders_11_ASD_discovery_controls-13097.s1
Maternal
Simplex (quad)
NA
No Animal Model Data Available