15q25.3CNV Type: Deletion-Duplication
Largest CNV size: 600000 bp
Statistics Box:
Number of Reports: 16
Number of Reports: 16
Summary Information
Summary statement in development
Additional Locus Information
References
Major Reports
Title
Author, Year
Report Class
CNV Type
Novel submicroscopic chromosomal abnormalities detected in autism spectrum disorder.
Deletion
An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabili...
Duplication
Refinement and discovery of new hotspots of copy-number variation associated with autism spectrum disorder.
Deletion
Identification of small exonic CNV from whole-exome sequence data and application to autism spectrum disorder.
Deletion-Duplication
Both rare and de novo copy number variants are prevalent in agenesis of the corpus callosum but not in cerebellar hypoplasia or polymicrogyria.
Deletion
Excess of rare, inherited truncating mutations in autism.
Deletion-Duplication
Targeted resequencing of 358 candidate genes for autism spectrum disorder in a Chinese cohort reveals diagnostic potential and genotype-phenotype c...
Duplication
Minor Reports
Title
Author, Year
Report Class
CNV Type
Identifying autism loci and genes by tracing recent shared ancestry.
Deletion
Novel copy number variants in children with autism and additional developmental anomalies.
Deletion
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
Identification of candidate intergenic risk loci in autism spectrum disorder.
Duplication
Transmission disequilibrium of small CNVs in simplex autism.
Deletion-Duplication
Performance of case-control rare copy number variation annotation in classification of autism.
Deletion-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
Cases
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
christian_08_ASD_discovery_cases
Subset of unrelated AGRE subjects (362 from multiplex families, 35 from simplex families)
397
ASD
58.4% Male
600000
1
0
1
davis_09_ASD_discovery_cases
Autistic cases from Autism Genetic Research Exchange (AGRE)
36
ASD: diagnosis confirmed through ADI and in some cases ADOS-G. 17 cases with syndromic autism (autism and less than common craniofacial dysmorphology, limb or digit abnormality, or ocular abnormality), 19 cases selected at random with autism and no associated syndromic features
NA
NA
110839
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
421847
3
5
8
girirajan_13a_ASD_discovery_cases
1979 simplex cases from the Simons Simplex Collection (SSC), 579 multiplex cases from AGRE.
2588
Diagnosis of ASD based on meeting criteria on the Autism Diagnostic Observation Schedule (ADOS) and on the Autism Diagnostic Interview, Revised (ADI-R)
NA
NA
102900
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
454120
0
2
2
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
154678
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
100103
2
1
3
krumm_15_ASD_discovery_cases
Probands from the Simons Simplex Collection
2377
Diagnosis of ASD
N/A
N/A
105866
1
6
7
morrow_08_ASD_discovery_cases
Affected individuals from 70 families (52 simplex, 18 multiplex) recruited by Homozygosity Mapping Collaborative for Autism (HMCA) used in CNV analysis. This cohort was selected from an original population of affected individuals from 104 families (79 simplex, 25 multiplex; 82.7% male); 88 of these pedigrees have cousin marriages.
94
ASD (based on DSM-IV-TR diagnoses when research scales not available in native language)
39300
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)
100107
1
2
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
14141
1
0
1
sajan_13_ACC/CBLH/PMG_discovery_cases
Individuals with severe congenital brain malformations [agenesis of the corpus callosum (ACC), cerebellar hypoplasia (CBLH), and/or polymicrogyria (PMG)] and additional neurodevelopmental phenotypes
487
Diagnosis of agenesis of the corpus callosum (ACC), cerebellar hypoplasia (CBLH), and/or polymicrogyria (PMG); additional diagnoses of autism spectrum disorder (ASD), developmental delay (DD), intellectual disability (ID) and/or seizures in some patients
N/A
N/A
1431477
2
0
2
sanders_11_ASD_discovery_cases
Autistic probands from the Simons Simplex Collection (SSC). 872 probands in quartet families, 272 probands in trios.
1124
ASD diagnosis: 89.5% autism; 8.5% PDD-NOS, 2% Asperger syndrome. Mean full-scale IQ 85.1 1.5 (mean verbal IQ, 81.9 1.7; mean non-verbal IQ, 88.4 1.4)
Mean, 9.1 yrs.
86.1% Male
365019
42
2
44
walker_13_ASD_discovery_cases
Unrelated ASD probands previously described in Lionel et al., 2011 and Pinto et al., 2010 CNV reports
1491
Diagnosis of ASD based on gold-standard instruments including ADI and ADOS.
N/A
N/A
314378
0
1
1
yin_16_ASD_discovery_cases
Discovery cohort of ASD cases recruited from the Department of Psychiatry of National Taiwan University Hospital (NTUH), Chang Gung Memorial Hospital (CGMH), Taoyuan, and Taoyuan Mental Hospital (TMH), Taiwan.
335
Cases diagnosed with autistic disorder according to DSM-IV and confirmed by using the Chinese version of ADI-R. Cases' autistic behaviors assessed by Social Responsiveness Scale (SRS), and cognitive functions assessed by the Weschler Intelligence Scale for Children-Third Edition (WISC-III) and the Wisconsin Card Sorting Test (WCST).
Mean, 9.39 4.04 yrs.
89.3% Male
19301
1
0
1
zhou_19_ASD_discovery_cases
ASD probands from families recruited from training centers in Beijing and Tsingdao, China
539
Cases were diagnosed for ASD by ADI-R and ADOS
4.92 1.20 years
87.38% Male
133000
0
1
1
Controls
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
christian_08_ASD_discovery_controls
Control subjects from NIMH Genetics Initiative Control sample set, characterized for Axis I disorders
372
Controls
600000
0
0
0
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
337488
11
4
15
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
154678
1
0
1
krumm_13_ASD_discovery_controls
Unaffected siblings of ASD probands from quad families ascertained as part of the Simons Simplex Collection (SSC); CNVs detected using data from four previously published exome sequencing studies (O'Roak et al., 2011; Iossifov et al., 2012; O'Roak et al., 2012; Sanders et al., 2012)
411
Control (unaffected siblings of ASD probands). Social Responsiveness Scale (SRS) used as a quantitative measure of social deficits
N/A
46.47% Male
26677
1
0
1
krumm_15_ASD_discovery_controls
Unaffected siblings from quad families from the Simons Simplex Collection
1786
Control
N/A
N/A
52240
2
1
3
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)
100107
0
2
2
prasad_12_ASD_discovery_controls
PDx controls [1000 DNA samples from reportedly healthy donors (50.2% male) from BioServe (Beltsville, MD)] and 4139 in-house controls previously reported in Krawcak et al. 2006, Stewart et al. 2009, and Bierut et al. 2010. CNVs identified in controls were used to define rare ASD-specific CNVs.
5139
Control
NA
NA (PDx controls 50.2% male)
14141
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.
188278
29
0
29
walker_13_ASD_discovery_controls
Control samples from the SAGE cohort (n=1287), from the Ottawa Heart Institute (n=1234), and from the POPGEN collection (n=1123)
3644
Control
N/A
N/A
314378
N/A
N/A
N/A
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
19301
0
0
0
zhou_19_ASD_discovery_controls
Samples from blood donors at donation stations in Beijing, China (note: CNVs identified in controls not reported in this study)
512
Controls were screened for ASD by AQ measurement (score < 32) and self-reported to be negative for personal or family history of neurological disorders or psychiatric illness related to ASD and adverse pregnancy history
29.77 9.12 years
76.17% Male
N/A
N/A
N/A
N/A
Cases
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
christian_08_ASD_discovery_cases
235 White/Not Hispanic, 28 White/Hispanic, 9 Asians, 4 Blacks, 14 Mixed/Not Hispanic, 7 Mixed/Hispanic, 98 Unknown
aCGH
RPCI 19K BAC microarray
FISH, microsatellite, qPCR
davis_09_ASD_discovery_cases
NA
Array SNP
Affymetrix 250K Nsp, Affymetrix 250K Syt
HMM
CNAG v2.0
None
engchuan_15_ASD_discovery_cases
Caucasian
Solid phase hybridization
Illumina 1M
None
girirajan_13a_ASD_discovery_cases
NA
aCGH
Custom microarray with a high density of probes targeted to 1,367 regions with a susceptible genomic architecture
ADM-2
Agilent Genomic Workbench
aCGH (NimbleGen 135K array)
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_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)
morrow_08_ASD_discovery_cases
Arabic Middle East, Turkey, and Pakistan
Array SNP
Affymetrix 500K
BRLMM
dChip
poultney_13_ASD_discovery_cases
European
WES
Agilent SureSelect Human All Exon v.2
XHMM
qPCR
prasad_12_ASD_discovery_cases
Canada
aCGH
Agilent 1M
ADM-2, DNAcopy (R Bioconductor)
DNA Analytics v4.0.85 (Agilent), DNAcopy
None
sajan_13_ACC/CBLH/PMG_discovery_cases
81.31% Caucasian
Solid phase hybridization
Illumina InfiniumII HumanHap610
PennCNV
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
walker_13_ASD_discovery_cases
N/A
Array SNP, solid phase hybridization
Illumina 1M, Affymetrix 6.0
QuantiSNP, PennCNV, Birdsuite, iPattern, Affymetrix Genotyping Console
None
yin_16_ASD_discovery_cases
Han Chinese
Array SNP
Affymetrix 6.0
Affymetrix Genotyping Console v.4.1
None
zhou_19_ASD_discovery_cases
Han Chinese
Targeted exome sequencing
Roche NimbleGen SeqCap EZ Library, Illumina HiSeq 2500
XHMM v.1.0
qPCR
Controls
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
christian_08_ASD_discovery_controls
262 Caucasians, 100 African-Americans
aCGH
RPCI 19K BAC microarray
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_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
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
walker_13_ASD_discovery_controls
N/A
Array SNP, solid phase hybridization
Illumina 1M, Affymetrix 6.0
QuantiSNP, PennCNV, Birdsuite, iPattern, Affymetrix Genotyping Console
None
yin_16_ASD_discovery_controls
Han Chinese
Array SNP
Affymetrix 6.0
Affymetrix Genotyping Console v.4.1
None
zhou_19_ASD_discovery_controls
Han Chinese
Targeted exome sequencing
Roche NimbleGen SeqCap EZ Library, Illumina HiSeq 2500
XHMM v.1.0
Cases
Patient ID
Author, Year
Age
Gender
Primary Diagnosis
Clinical Profile
Cognitive Profile
CNV Start
CNV End
CNV Size
Genome Build
Type Method
Validation
christian_08_ASD_discovery_cases-AU056103
NA
M
ASD
NA
NA
84562743
85164833
602091
GRCh38
Deletion
Yes
davis_09_ASD_discovery_cases-AU057905
NA
NA
Non-syndromic ASD
Diagnosis: broad spectrum autism. Non-syndromic autism (no craniofacial dysmorphology, limb or digit malformation, or ocular abnormality).
85587147
85697986
110839
Unknown
Deletion
No
engchuan_15_ASD_discovery_cases-case13051_603
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
85272357
85600273
327917
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case13122_1393
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
84917136
84956998
39863
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case14144_2420
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
85251973
85566351
314379
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case14242_3660
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
86620033
86961734
341702
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case16067_1571134001
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
86031945
86366669
334725
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case16067_1571134001
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
86649628
86712517
62890
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case3609_3
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
85272357
85579548
307192
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case5273_3
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
85178426
85600273
421848
GRCh38
Duplication
No
girirajan_13a_ASD_discovery_cases-11944.p1
N/A
N/A
ASD
Diagnosis of ASD based on meeting criteria on the Autism Diagnostic Observation Schedule (ADOS) and on the Autism Diagnostic Interview, Revised (ADI-R)
N/A
88099313
88202213
102901
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002582
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
85327915
85556913
228999
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002793
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
85185563
85639683
454121
GRCh38
Duplication
Yes
kanduri_15_ASD_discovery_cases-case1869
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.
87882097
88036774
154678
Unknown
Deletion
No
krumm_13_ASD_discovery_cases-case11092.p1
N/A
M
ASD
ASD proband from SSC quad family 11092. SRS score of 76.
Full-scale IQ (FSIQ) score of 109.
85485720
85585823
100104
GRCh38
Duplication
No (not tested)
krumm_13_ASD_discovery_cases-case12420.p1
N/A
M
ASD
ASD proband from SSC quad family 12420. SRS score of 48.
Full-scale IQ (FSIQ) score of 131.
84918523
84945200
26678
GRCh38
Deletion
No (not tested)
krumm_13_ASD_discovery_cases-case12445.p1
N/A
M
ASD
ASD proband from SSC quad family 12445. SRS score of 81.
Full-scale IQ (FSIQ) score of 104.
84918523
84945200
26678
GRCh38
Deletion
No (not tested)
krumm_15_ASD_discovery_cases-case11092.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
85521427
85585823
64397
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_cases-case12420.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
84918523
84945200
26678
GRCh38
Deletion
Yes
krumm_15_ASD_discovery_cases-case12558.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Trio
85521427
85585823
64397
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_cases-case12842.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Trio
85485720
85543955
58236
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_cases-case13119.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Trio
85521427
85585823
64397
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_cases-case13929.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
85521427
85585823
64397
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_cases-case14219.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
85533583
85639449
105867
GRCh38
Duplication
Yes
morrow_08_ASD_discovery_cases-case5602
NA
ASD
NA
NA
85632000
85671000
39300
Unknown
Deletion
No
poultney_13_ASD_discovery_cases-case05HI4420A
N/A
M
ASD
ASD case from AGRE (AGRE ID AU1056301; NDAR ID NDAR_INVBK224THK)
85485719
85585825
100107
GRCh38
Duplication
No
poultney_13_ASD_discovery_cases-case99HI0868A
N/A
F
ASD
ASD case from AGRE (AGRE ID AU002003; NDAR ID NDAR_INVXV984GE7)
84920987
84945202
24216
GRCh38
Deletion
Yes
poultney_13_ASD_discovery_cases-caseHI4269
N/A
M
ASD
ASD case from AGRE (AGRE ID AU0263302; NDAR ID NDAR_INVYB784VAR)
85485719
85585825
100107
GRCh38
Duplication
No
prasad_12_ASD_discovery_cases-case99408
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
85785964
85800104
14141
Unknown
Deletion
No
sajan_13_ACC/CBLH/PMG_discovery_cases-case1303-0
N/A
N/A
ACC-PMG
Diagnosis of agenesis of the corpus callosum (ACC) and polymicrogyria (PMG). ASD: no. Seizures: no.
Developmental delay: yes. Intellectual disability: yes.
86840775
88272251
1431477
GRCh38
Deletion
Yes
sajan_13_ACC/CBLH/PMG_discovery_cases-caseLR04-017
N/A
N/A
CBLH
Diagnosis of cerebellar hypoplasia (CBLH).
84921267
84956998
35732
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11044.p1
5.5
M
Aspergers
NA
Full-scale IQ, 106; non-verbal IQ, 101; verbal IQ 112
85968080
85972985
4906
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11073.p1
9.7
M
Autism
NA
Full-scale IQ, 100; non-verbal IQ, 100; verbal IQ, 101
84946702
84950972
4271
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11092.p1
13.1
M
Autism
NA
Full-scale IQ, 109; non-verbal IQ, 125; verbal IQ, 108
85235254
85600273
365020
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11133.p1
17
M
Autism
NA
Full-scale IQ, 128; non-verbal IQ, 110; verbal IQ 140
87282457
87331464
49008
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11144.p1
10.9
M
Autism
NA
Full-scale IQ, 111; non-verbal IQ, 127; verbal IQ, 99
85466873
85470434
3562
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11229.p1
9.4
M
Autism
NA
Full-scale IQ, 63; non-verbal IQ, 68; verbal IQ, 56
86215421
86223137
7717
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11299.p1
6.4
M
Autism
NA
Full-scale IQ, 97; non-verbal IQ, 104; verbal IQ, 87
87285376
87331464
46089
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11356.p1
11.5
F
Autism
NA
Full-scale IQ, 72; non-verbal IQ, 72; verbal IQ, 77
87285376
87326793
41418
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11383.p1
7.1
M
Autism
NA
Full-scale IQ, 94; non-verbal IQ, 95; verbal IQ, 95
87285376
87331464
46089
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11505.p1
6.3
M
Autism
NA
Full-scale IQ, 76; non-verbal IQ, 85; verbal IQ, 67
85797294
85806589
9296
GRCh38
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
87285376
87326793
41418
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11622.p1
9.3
M
Autism
NA
Full-scale IQ, 97; non-verbal IQ, 92; verbal IQ, 106
85968080
85977902
9823
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11630.p1
10.6
M
Autism
NA
Full-scale IQ, 104; non-verbal IQ, 105; verbal IQ, 106
87282457
87331464
49008
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11868.p1
7.9
M
Autism
NA
Full-scale IQ, 88; non-verbal IQ, 91; verbal IQ, 86
87282457
87326793
44337
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11897.p1
5.9
M
Autism
NA
Full-scale IQ, 75; non-verbal IQ, 84; verbal IQ, 67
87282457
87326793
44337
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11935.p1
5.3
M
Autism
NA
Full-scale IQ, 83; non-verbal IQ, 90; verbal IQ, 77
85968080
85977902
9823
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11981.p1
6.6
F
Aspergers
NA
Full-scale IQ, 99; non-verbal IQ, 99; verbal IQ, 100
85968080
85977902
9823
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12009.p1
6.8
M
Autism
NA
Full-scale IQ, 78; non-verbal IQ, 87; verbal IQ, 69
88461260
88485706
24447
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12015.p1
7.2
M
Autism
NA
Full-scale IQ, 78; non-verbal IQ, 92; verbal IQ, 60
87674523
87749332
74810
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12096.p1
11.7
M
Autism
NA
Full-scale IQ, 119; non-verbal IQ, 119; verbal IQ, 114
87282457
87326793
44337
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12184.p1
12.9
F
Autism
NA
Full-scale IQ, 28; non-verbal IQ, 31; verbal IQ, 21
87452856
87463130
10275
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12312.p1
5.5
M
Autism
NA
Full-scale IQ, 73; non-verbal IQ, 80; verbal IQ, 70
87282457
87331464
49008
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12404.p1
5.1
M
Autism
NA
Full-scale IQ, 48; non-verbal IQ, 50; verbal IQ, 57
87282457
87326793
44337
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12420.p1
7.8
M
Autism
NA
Full-scale IQ, 131; non-verbal IQ, 132; verbal IQ, 123
84917701
84956998
39298
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12420.p1
7.8
M
Autism
NA
Full-scale IQ, 131; non-verbal IQ, 132; verbal IQ, 123
85968080
85972985
4906
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12429.p1
4.8
M
Autism
NA
Full-scale IQ, 74; non-verbal IQ, 71; verbal IQ, 82
85968080
85977902
9823
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12445.p1
10.9
M
Autism
NA
Full-scale IQ, 104; non-verbal IQ, 111; verbal IQ, 91
84917701
84956998
39298
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12476.p1
8.1
M
Autism
NA
Full-scale IQ, 91; non-verbal IQ, 100; verbal IQ, 79
87282457
87326793
44337
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12540.p1
6.9
F
Autism
NA
Full-scale IQ, 104; non-verbal IQ, 104; verbal IQ, 105
87452856
87463130
10275
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
85272357
85600273
327917
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12682.p1
9.7
M
Autism
NA
Full-scale IQ, 92; non-verbal IQ, 93; verbal IQ, 92
87282457
87326793
44337
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12701.p1
6.7
M
Autism
NA
Full-scale IQ, 73; non-verbal IQ, 77; verbal IQ, 74
88464841
88485706
20866
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12710.p1
4
M
Autism
NA
Full-scale IQ, 88; non-verbal IQ, 81; verbal IQ, 105
87282457
87326793
44337
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12722.p1
11.6
M
Autism
NA
Full-scale IQ, 72; non-verbal IQ, 73; verbal IQ, 77
87282457
87326793
44337
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12748.p1
6.4
M
Autism
NA
Full-scale IQ, 92; non-verbal IQ, 95; verbal IQ, 93
87282457
87320484
38028
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12757.p1
5.3
M
Autism
NA
Full-scale IQ, 57; non-verbal IQ, 62; verbal IQ, 55
88291078
88296491
5414
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12758.p1
11.3
M
Autism
NA
Full-scale IQ, 74; non-verbal IQ, 79; verbal IQ, 70
85968080
85977902
9823
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12784.p1
4.4
M
Autism
NA
Full-scale IQ, 99; non-verbal IQ, 106; verbal IQ, 87
87282457
87331464
49008
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12836.p1
6.8
M
Autism
NA
Full-scale IQ, 127; non-verbal IQ, 121; verbal IQ, 129
87282457
87326793
44337
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-13076.p1
6.7
M
ASD
NA
Full-scale IQ, 89; non-verbal IQ, 85; verbal IQ, 102
85797294
85806589
9296
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
85797294
85806897
9604
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-13168.p1
7.9
F
ASD
NA
Full-scale IQ, 104; non-verbal IQ, 105; verbal IQ, 103
85968080
85978252
10173
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-13195.p1
8.3
M
Autism
NA
Full-scale IQ, 76; non-verbal IQ, 88; verbal IQ, 63
87282457
87331464
49008
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-13337.p1
5.1
M
Autism
NA
Full-scale IQ, 125; non-verbal IQ, 107; verbal IQ, 110
85968080
85972985
4906
GRCh38
Deletion
No
walker_13_ASD_discovery_cases-case8-14144-2420
N/A
M
ASD
N/A
N/A
85251973
85566351
314379
GRCh38
Duplication
No
yin_16_ASD_discovery_cases-case483
N/A
N/A
ASD
Cases diagnosed with autistic disorder according to DSM-IV and confirmed by using the Chinese version of ADI-R.
86251204
86270504
19301
GRCh38
Deletion
No
zhou_19_ASD_discovery_cases-caseAU078903
N/A
N/A
ASD
Diagnosis of ASD by ADI-R and ADOS.
88126221
88258731
132511
GRCh38
Duplication
Yes
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-controlB141230_1007874883
N/A
N/A
Control
No previous psychiatric history
85251973
85566351
314379
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlB197815_1007874845
N/A
N/A
Control
No previous psychiatric history
84917136
84956998
39863
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlB333151_1007853867
N/A
N/A
Control
No previous psychiatric history
84917136
84956998
39863
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlB413051_1007853900
N/A
N/A
Control
No previous psychiatric history
85251973
85566351
314379
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlB503964_1007875238
N/A
N/A
Control
No previous psychiatric history
84917136
84956998
39863
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlB585396_1007852636
N/A
N/A
Control
No previous psychiatric history
84917136
84956998
39863
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlB659155_1007854741
N/A
N/A
Control
No previous psychiatric history
84917136
84956998
39863
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlB742876_1007852892
N/A
N/A
Control
No previous psychiatric history
85237085
85566351
329267
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlB769494_1007846090
N/A
N/A
Control
No previous psychiatric history
87052074
87117849
65776
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlB823925_0067942577
N/A
N/A
Control
No previous psychiatric history
86944897
87014673
69777
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlHABC_900118_900118
N/A
N/A
Control
No previous psychiatric history
85262785
85600273
337489
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlHABC_900343_900343
N/A
N/A
Control
No previous psychiatric history
84917875
84956998
39124
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlHABC_900612_900612
N/A
N/A
Control
No previous psychiatric history
84917701
84956998
39298
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlHABC_901147_901147
N/A
N/A
Control
No previous psychiatric history
84917701
84956998
39298
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlHABC_902486_902486
N/A
N/A
Control
No previous psychiatric history
86527816
86719574
191759
GRCh38
Deletion
No
kanduri_15_ASD_discovery_controls-control_split594
N/A
N/A
Control
Control screened for DSM-IV mental disorders using the Composite International Diagnostic Interview and psychotic disorders using the research version of the Structured Clinical Interview for DSM-IV
87882097
88036774
154678
Unknown
Deletion
No
krumm_13_ASD_discovery_controls-control11241.s1
N/A
M
Control
Unaffected sibling from SSC quad family 11241. SRS score of 38.
84918523
84945200
26678
GRCh38
Deletion
No (not tested)
krumm_15_ASD_discovery_controls-control11241.s1
N/A
Male
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
84918523
84945200
26678
GRCh38
Deletion
Yes
krumm_15_ASD_discovery_controls-control13929.s1
N/A
Male
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
85533583
85585823
52241
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_controls-control14142.s1
N/A
Female
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
84918523
84945200
26678
GRCh38
Deletion
Yes
poultney_13_ASD_discovery_controls-control05C40151A
N/A
F
Control
NIMH Control (NIMH ID 63888)
85485719
85585825
100107
GRCh38
Duplication
No
poultney_13_ASD_discovery_controls-control05C40538A
N/A
M
Control
NIMH Control (NIMH ID 21301)
85485719
85585825
100107
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11059.s1
9.3
F
Control (matched sibling)
NA
NA
87285376
87346013
60638
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11091.s1
5.5
F
Control (matched sibling)
NA
NA
87285376
87334019
48644
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11135.s1
12.9
F
Control (matched sibling)
NA
NA
85968080
85972985
4906
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11144.s1
14
F
Control (matched sibling)
NA
NA
85466873
85470434
3562
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11158.s1
11.6
M
Control (matched sibling)
NA
NA
87363124
87366884
3761
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11197.s1
7.8
M
Control (matched sibling)
NA
NA
87285376
87326793
41418
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11229.s1
6.1
M
Control (matched sibling)
NA
NA
86215421
86223137
7717
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11241.s1
11.9
M
Control (matched sibling)
NA
NA
84918740
84956998
38259
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11256.s1
14
M
Control (matched sibling)
NA
NA
85968080
85972985
4906
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11299.s1
4.3
M
Control (matched sibling)
NA
NA
87285376
87334263
48888
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11374.s1
18.1
F
Control (matched sibling)
NA
NA
87285376
87326793
41418
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11383.s1
5.5
M
Control (matched sibling)
NA
NA
87285376
87326793
41418
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11480.s1
13.8
F
Control (matched sibling)
NA
NA
85968080
85972985
4906
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11788.s1
11.5
M
Control (matched sibling)
NA
NA
87282457
87326793
44337
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11834.s1
8.3
M
Control (matched sibling)
NA
NA
87282457
87326793
44337
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11868.s1
5.2
F
Control (matched sibling)
NA
NA
87282457
87326793
44337
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11948.s1
11.8
M
Control (matched sibling)
NA
NA
87282457
87326793
44337
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11999.s1
4.3
F
Control (matched sibling)
NA
NA
85968080
85977902
9823
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12015.s1
9
F
Control (matched sibling)
NA
NA
87674523
87749332
74810
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12117.s1
12
F
Control (matched sibling)
NA
NA
85797294
85806589
9296
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12162.s1
11
F
Control (matched sibling)
NA
NA
85968080
85972985
4906
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12184.s1
10.4
F
Control (matched sibling)
NA
NA
87452856
87463130
10275
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12212.s1
12.3
F
Control (matched sibling)
NA
NA
85968080
85977902
9823
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12652.s1
4.1
F
Control (matched sibling)
NA
NA
87282457
87326793
44337
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12701.s1
10.4
M
Control (matched sibling)
NA
NA
85272357
85460635
188279
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12748.s1
4.2
M
Control (matched sibling)
NA
NA
87282457
87331464
49008
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12836.s1
4.2
M
Control (matched sibling)
NA
NA
87282457
87320484
38028
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-13168.s1
4.7
F
Control (matched sibling)
NA
NA
85968080
85977902
9823
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-13195.s1
10.1
M
Control (matched sibling)
NA
NA
87282457
87326793
44337
GRCh38
Deletion
No
Cases
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
christian_08_ASD_discovery_cases-AU056103
FISH, microsatellite
inherited
Multiplex
NA
EGLN1P1,RNU6-339P,RNU6-796P,LINC00933,ZSCAN2,SCAND2P,WDR73,NMB,ALPK3,UBE2Q2P1,SEC11A,ZNF592,PDE8A,SLC28A1
davis_09_ASD_discovery_cases-AU057905
Unknown
Unknown
Unknown
0 genes
engchuan_15_ASD_discovery_cases-case13051_603
Unknown
MIR7706,RNU7-79P,ADAMTS7P4,AKAP13
engchuan_15_ASD_discovery_cases-case13122_1393
Unknown
RNU6-339P,RNU6-796P,SLC28A1
engchuan_15_ASD_discovery_cases-case14144_2420
Unknown
MIR7706,RNU7-79P,ADAMTS7P4,AKAP13
engchuan_15_ASD_discovery_cases-case14242_3660
Unknown
AGBL1
engchuan_15_ASD_discovery_cases-case16067_1571134001
Unknown
RNA5SP400,AGBL1-AS1,LINC01584,AGBL1
engchuan_15_ASD_discovery_cases-case16067_1571134001
Unknown
AGBL1
engchuan_15_ASD_discovery_cases-case3609_3
Unknown
MIR7706,RNU7-79P,ADAMTS7P4,AKAP13
engchuan_15_ASD_discovery_cases-case5273_3
Unknown
NIFKP8,RN7SL428P,MIR7706,RNU7-79P,GOLGA6L3,CSPG4P12,ADAMTS7P4,AKAP13
girirajan_13a_ASD_discovery_cases-11944.p1
aCGH (NimbleGen 135K array)
Paternal
Simplex
Unknown
MED28P6,NTRK3
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002582
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Maternal
Unknown
Unknown
MIR7706,RNU7-79P,ADAMTS7P4,AKAP13
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002793
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Maternal
Unknown
Unknown
RN7SL428P,MIR7706,RNU7-79P,GOLGA6L3,CSPG4P12,ADAMTS7P4,AKAP13
kanduri_15_ASD_discovery_cases-case1869
Maternal
Unknown
Unknown
Intergenic CNV: nearest genes, AGBL1(dist=309814),LINC00052(dist=83386)
krumm_13_ASD_discovery_cases-case11092.p1
Maternal
Simplex
Segregated
AKAP13
krumm_13_ASD_discovery_cases-case12420.p1
Maternal
Simplex
Segregated
RNU6-339P,RNU6-796P,SLC28A1
krumm_13_ASD_discovery_cases-case12445.p1
Maternal
Simplex
Segregated
RNU6-339P,RNU6-796P,SLC28A1
krumm_15_ASD_discovery_cases-case11092.p1
Illumina 1M
Maternal
Simplex
Segregated
AKAP13
krumm_15_ASD_discovery_cases-case12420.p1
Illumina 1MDuo
Maternal
Simplex
Segregated
RNU6-339P,RNU6-796P,SLC28A1
krumm_15_ASD_discovery_cases-case12558.p1
Illumina 1MDuo
Maternal
Simplex
Segregated
AKAP13
krumm_15_ASD_discovery_cases-case12842.p1
1M-Duov3
Paternal
Simplex
Segregated
AKAP13
krumm_15_ASD_discovery_cases-case13119.p1
1M-Duov3
Maternal
Simplex
Segregated
AKAP13
krumm_15_ASD_discovery_cases-case13929.p1
Omni2.5-4v1
Paternal
Simplex
Not segregated (CNV in unaffected sibling)
AKAP13
krumm_15_ASD_discovery_cases-case14219.p1
Omni2.5-4v1
Paternal
Simplex
Segregated
AKAP13
morrow_08_ASD_discovery_cases-case5602
Unknown
NA
NA
0 genes
poultney_13_ASD_discovery_cases-case05HI4420A
Unknown
Unknown (likely multiplex/AGRE)
Unknown
AKAP13
poultney_13_ASD_discovery_cases-case99HI0868A
qPCR
Unknown
Unknown (likely multiplex/AGRE)
Unknown
RNU6-339P,RNU6-796P,SLC28A1
poultney_13_ASD_discovery_cases-caseHI4269
Unknown
Unknown (likely multiplex/AGRE)
Unknown
AKAP13
prasad_12_ASD_discovery_cases-case99408
Unknown
Unknown
Unknown
0 genes
sajan_13_ACC/CBLH/PMG_discovery_cases-case1303-0
qPCR
Unknown
Unknown
Unknown
RNU6-185P,LINC00052,MED28P6,NTRK3-AS1,AGBL1,NTRK3
sajan_13_ACC/CBLH/PMG_discovery_cases-caseLR04-017
qPCR (CNV not detected)
Biparental/Diploid copy number
Unknown
Unknown
RNU6-339P,RNU6-796P,SLC28A1
sanders_11_ASD_discovery_cases-11044.p1
Maternal
Simplex (trio)
NA
sanders_11_ASD_discovery_cases-11073.p1
Paternal
Simplex (quad-proband matched)
Segregated
sanders_11_ASD_discovery_cases-11092.p1
Maternal
Simplex (quad-proband matched)
Segregated
MIR7706,RNU7-79P,GOLGA6L3,ADAMTS7P4,AKAP13
sanders_11_ASD_discovery_cases-11133.p1
Paternal
Simplex (trio)
NA
sanders_11_ASD_discovery_cases-11144.p1
Maternal
Simplex (quad-proband matched)
Not segregated
AKAP13
sanders_11_ASD_discovery_cases-11229.p1
Maternal
Simplex (quad-proband matched)
Not segregated
AGBL1
sanders_11_ASD_discovery_cases-11299.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11356.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11383.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11505.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11523.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11622.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11630.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11868.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11897.p1
Both parents
Simplex (quad-proband matched)
Segregated
sanders_11_ASD_discovery_cases-11935.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11981.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12009.p1
Unknown
Simplex (trio)
NA
MRPL46,MRPS11
sanders_11_ASD_discovery_cases-12015.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12096.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12184.p1
Unknown
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12312.p1
Paternal
Simplex (trio)
NA
sanders_11_ASD_discovery_cases-12404.p1
Maternal
Simplex (trio)
NA
sanders_11_ASD_discovery_cases-12420.p1
Maternal
Simplex (quad-proband matched)
Not segregated
RNU6-339P,RNU6-796P,SLC28A1
sanders_11_ASD_discovery_cases-12420.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12429.p1
Maternal
Simplex (trio)
NA
sanders_11_ASD_discovery_cases-12445.p1
Maternal
Simplex (quad-proband matched)
Not segregated
RNU6-339P,RNU6-796P,SLC28A1
sanders_11_ASD_discovery_cases-12476.p1
Paternal
Simplex (trio)
NA
sanders_11_ASD_discovery_cases-12540.p1
Unknown
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12558.p1
Maternal
Simplex (trio)
NA
MIR7706,RNU7-79P,ADAMTS7P4,AKAP13
sanders_11_ASD_discovery_cases-12682.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12701.p1
Unknown
Simplex (quad-proband matched)
Not segregated
MRPL46,MRPS11
sanders_11_ASD_discovery_cases-12710.p1
Paternal
Simplex (trio)
NA
sanders_11_ASD_discovery_cases-12722.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12748.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12757.p1
Unknown
Simplex (trio)
NA
sanders_11_ASD_discovery_cases-12758.p1
Both parents
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12784.p1
Both parents
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12836.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-13076.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-13097.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-13168.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-13195.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-13337.p1
Paternal
Simplex (trio)
NA
walker_13_ASD_discovery_cases-case8-14144-2420
Unknown
Simplex
Unknown
MIR7706,RNU7-79P,ADAMTS7P4,AKAP13
yin_16_ASD_discovery_cases-case483
Unknown
Unknown
Unknown
AGBL1
zhou_19_ASD_discovery_cases-caseAU078903
qPCR
Maternal
MED28P6,NTRK3-AS1,NTRK3
Controls
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
engchuan_15_ASD_discovery_controls-controlB141230_1007874883
Unknown
MIR7706,RNU7-79P,ADAMTS7P4,AKAP13
engchuan_15_ASD_discovery_controls-controlB197815_1007874845
Unknown
RNU6-339P,RNU6-796P,SLC28A1
engchuan_15_ASD_discovery_controls-controlB333151_1007853867
Unknown
RNU6-339P,RNU6-796P,SLC28A1
engchuan_15_ASD_discovery_controls-controlB413051_1007853900
Unknown
MIR7706,RNU7-79P,ADAMTS7P4,AKAP13
engchuan_15_ASD_discovery_controls-controlB503964_1007875238
Unknown
RNU6-339P,RNU6-796P,SLC28A1
engchuan_15_ASD_discovery_controls-controlB585396_1007852636
Unknown
RNU6-339P,RNU6-796P,SLC28A1
engchuan_15_ASD_discovery_controls-controlB659155_1007854741
Unknown
RNU6-339P,RNU6-796P,SLC28A1
engchuan_15_ASD_discovery_controls-controlB742876_1007852892
Unknown
MIR7706,RNU7-79P,GOLGA6L3,ADAMTS7P4,AKAP13
engchuan_15_ASD_discovery_controls-controlB769494_1007846090
Unknown
engchuan_15_ASD_discovery_controls-controlB823925_0067942577
Unknown
AGBL1
engchuan_15_ASD_discovery_controls-controlHABC_900118_900118
Unknown
MIR7706,RNU7-79P,ADAMTS7P4,AKAP13
engchuan_15_ASD_discovery_controls-controlHABC_900343_900343
Unknown
RNU6-339P,RNU6-796P,SLC28A1
engchuan_15_ASD_discovery_controls-controlHABC_900612_900612
Unknown
RNU6-339P,RNU6-796P,SLC28A1
engchuan_15_ASD_discovery_controls-controlHABC_901147_901147
Unknown
RNU6-339P,RNU6-796P,SLC28A1
engchuan_15_ASD_discovery_controls-controlHABC_902486_902486
Unknown
AGBL1
kanduri_15_ASD_discovery_controls-control_split594
Unknown
Intergenic CNV: nearest genes, AGBL1(dist=309814),LINC00052(dist=83386)
krumm_13_ASD_discovery_controls-control11241.s1
Paternal
Simplex
RNU6-339P,RNU6-796P,SLC28A1
krumm_15_ASD_discovery_controls-control11241.s1
Illumina 1MDuo
Paternal
RNU6-339P,RNU6-796P,SLC28A1
krumm_15_ASD_discovery_controls-control13929.s1
Omni2.5-4v1
Paternal
AKAP13
krumm_15_ASD_discovery_controls-control14142.s1
Omni2.5-4v1
Maternal
RNU6-339P,RNU6-796P,SLC28A1
poultney_13_ASD_discovery_controls-control05C40151A
Unknown
AKAP13
poultney_13_ASD_discovery_controls-control05C40538A
Unknown
AKAP13
sanders_11_ASD_discovery_controls-11059.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11091.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11135.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11144.s1
Maternal
Simplex (quad)
NA
AKAP13
sanders_11_ASD_discovery_controls-11158.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11197.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11229.s1
Maternal
Simplex (quad)
NA
AGBL1
sanders_11_ASD_discovery_controls-11241.s1
Paternal
Simplex (quad)
NA
RNU6-339P,RNU6-796P,SLC28A1
sanders_11_ASD_discovery_controls-11256.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11299.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11374.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11383.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11480.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11788.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11834.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11868.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11948.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11999.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12015.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12117.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12162.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12184.s1
Unknown
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12212.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12652.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12701.s1
Paternal
Simplex (quad)
NA
MIR7706,RNU7-79P,ADAMTS7P4,AKAP13
sanders_11_ASD_discovery_controls-12748.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12836.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-13168.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-13195.s1
Maternal
Simplex (quad)
NA
No Animal Model Data Available