19q13.32CNV Type: Deletion-Duplication
Largest CNV size: 247567 bp
Statistics Box:
Number of Reports: 13
Number of Reports: 13
Summary Information
Summary statement in development
Additional Locus Information
References
Major Reports
Title
Author, Year
Report Class
CNV Type
Functional impact of global rare copy number variation in autism spectrum disorders.
Deletion-Duplication
An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabili...
Deletion-Duplication
A discovery resource of rare copy number variations in individuals with autism spectrum disorder.
Deletion-Duplication
Transmission disequilibrium of small CNVs in simplex autism.
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.
Duplication
Convergence of genes and cellular pathways dysregulated in autism spectrum disorders.
Deletion
Excess of rare, inherited truncating mutations in autism.
Deletion-Duplication
Chromosomal microarray testing in adults with intellectual disability presenting with comorbid psychiatric disorders.
Deletion
Paternally inherited cis-regulatory structural variants are associated with autism.
Deletion-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
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
Genome-wide analysis of copy number variations identifies PARK2 as a candidate gene for autism spectrum disorder.
Duplication
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
51739
1
1
2
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
247566
3
5
8
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
1225429
3
3
6
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
52777
2
1
3
krumm_15_ASD_discovery_cases
Probands from the Simons Simplex Collection
2377
Diagnosis of ASD
N/A
N/A
51775
2
3
5
pinto_10_ASD_discovery_cases
Autism Genome Project (AGP) consortium patient cohort from families with at least two ASD individuals
996
ASD (ADI-R and ADOS): strict, broad, or spectrum ASD
247567
1
2
3
pinto_14_ASD_discovery_cases
ASD probands from simplex and multiplex families collected as part of stage 2 of the Autism Genome Project (AGP) after quality control (1,604 before QC)
1359
Cases classified according to ADOS and ADI-R
N/A
N/A
109147
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)
48894
0
2
2
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
249702
5
6
11
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
97392
0
3
3
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
17636
11
0
11
wolfe_16_ID_discovery_cases
Patients recruited via the Mental Health Research Network (MHRN) at 32 National Health Service (NHS) trusts and 1 non-NHS provider across England between August 2012 and March 2014.
202
All cases presented with intellectual disability. Clinical data including medical and psychiatric history (ICD-10 diagnoses) was collected from an informant and/or medical records; detailed psychiatric and behavioral phenotyping undertaken using the Mini Psychiatric Assessment Schedule for Adults with Developmental Disabilities (Mini PAS-ADD) and Behaviour Problems Inventory-Short Form (BPI-S).
Mean age, 37 yrs. (range, 18-78 yrs.)
63% Male
1526397
1
0
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
135545
0
1
1
Controls
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
engchuan_15_ASD_discovery_controls
Platform-matched controls from three large studies: SAGE (Study of Addiction Genetics and Environment), Ontario Colorectal Cancer study, and HABC (Health Aging and Body Composition)
2342
Controls; subjects had no previous psychiatric history
N/A
46.67% Male
149144
0
7
7
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
50895
2
3
5
krumm_15_ASD_discovery_controls
Unaffected siblings from quad families from the Simons Simplex Collection
1786
Control
N/A
N/A
52777
2
4
6
levy_11_ASD_discovery_controls
Unaffected siblings of autistic probands from 887 families from the Simons Simplex Collection (SSC)
863
Control
47.97% Male
65821
0
1
1
nord_11_ASD_discovery_controls
Samples from 367 total control individuals (319 European American, 48 African American) used to test for differences in rare CNV prevalence compared with autism cases
123
Controls (no history of psychiatric symptoms by self-report)
30 yrs.
23122
0
1
1
poultney_13_ASD_discovery_controls
Controls matched for European ancestry from NIMH and CEPH retained after filtering (original cohort size of 379 controls)
260
Control
N/A
47.49% Male (before filtering)
48894
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)
24729
0
1
1
sanders_11_ASD_discovery_controls
Matched siblings of autistic probands from the Simons Simplex Collection (SSC).
872
Controls
Mean, 10.0 yrs.
65316
7
2
9
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
135545
0
0
0
Cases
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
brandler_18_ASD_discovery_cases
N/A
WGS
Illumina HiSeq X10 or HiSeq 2500
ForestSV, Lumpy, Manta, Mobster, SV2
PCR, array SNP
engchuan_15_ASD_discovery_cases
Caucasian
Solid phase hybridization
Illumina 1M
None
kaminsky_11_DD/ID/ASD_discovery_cases
NA
aCGH
Agilent 44K, Agilent 105K
Feature Extraction, DNA Analytics
FISH, qPCR, MLPA, aCGH, standard G-banded chromosome analysis
krumm_13_ASD_discovery_cases
N/A
WES
Whole exome sequencing platforms used in four recent publications (O'Roak et al., 2011; Sanders et al., 2012; O'Roak et al., 2012, and Iossifov et al., 2012)
DNACopy, CGHCall
CoNIFER
Solid phase hybridization (Illumina 1M), aCGH (Agilent SurePrint G3 4x180K), or confirmed by manual inspection
krumm_15_ASD_discovery_cases
N/A
WES
CoNIFER, XHMM
Solid phase hybridization (Illumina 1M, 1 M Duo, or Omni 2.5)
pinto_10_ASD_discovery_cases
European
Solid phase hybridization
Illumina Infinium 1M SNP microarray
QuantiSNP, iPattern
qPCR, long-range PCR (LR-PCR), MLPA, FISH, aCGH (Agilent 1M), array SNP (Affymetrix 500K)
pinto_14_ASD_discovery_cases
Predominantly European
Solid phase hybridization
Illumina 1M (v.1 and v.3)
qPCR, MLPA, long-range PCR
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
qPCR
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
wolfe_16_ID_discovery_cases
74% White British
aCGH
Nimblegen 135K
qPCR, FISH, QF-PCR
yin_16_ASD_discovery_cases
Han Chinese
Array SNP
Affymetrix 6.0
Affymetrix Genotyping Console v.4.1
None
Controls
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
engchuan_15_ASD_discovery_controls
Caucasian
Solid phase hybridization
Illumina 1M
None
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
Solid phase hybridization (Illumina 1M), aCGH (Agilent SurePrint G3 4x180K), or confirmed by manual inspection
krumm_15_ASD_discovery_controls
N/A
WES
CoNIFER, XHMM
Solid phase hybridization (Illumina 1M, 1 M Duo, or Omni 2.5)
levy_11_ASD_discovery_controls
aCGH
NimbleGen HD2
HMM
nord_11_ASD_discovery_controls
aCGH
NimbleGen HD2
Sliding-window algorithm, ~10 kb minumum size threshold
None
poultney_13_ASD_discovery_controls
European
WES
Agilent SureSelect Human All Exon v.2
XHMM
None
prasad_12_ASD_discovery_controls
NA
aCGH
Agilent 1M
ADM-2, DNAcopy (R Bioconductor)
DNA Analytics v4.0.85 (Agilent), DNAcopy
sanders_11_ASD_discovery_controls
Solid phase hybridization
Illumina 1M v1 or Illumina 1M v3
PennCNV, QuantiSNP, GNOSIS
yin_16_ASD_discovery_controls
Han Chinese
Array SNP
Affymetrix 6.0
Affymetrix Genotyping Console v.4.1
None
Cases
Patient ID
Author, Year
Age
Gender
Primary Diagnosis
Clinical Profile
Cognitive Profile
CNV Start
CNV End
CNV Size
Genome Build
Type Method
Validation
brandler_18_ASD_discovery_cases-caseSSC08732
N/A
M
ASD
Case from SSC_phase1 cohort
44956665
44958301
1637
GRCh38
Deletion
Yes
brandler_18_ASD_discovery_cases-caseSSC09431
N/A
M
ASD
Case from SSC cohort
47132664
47184403
51740
GRCh38
Duplication
Yes
engchuan_15_ASD_discovery_cases-case16097_1571153001
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
47793971
47903117
109147
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case3181_7
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
47272198
47450914
178717
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case4150_1
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
45535295
45638795
103501
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case4268_1
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
46193810
46281358
87549
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case4296_1
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
47123808
47171294
47487
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case4519_1
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
48105215
48171099
65885
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case5397_3
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
45334011
45398041
64031
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case5443_5
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
45459541
45707107
247567
GRCh38
Duplication
No
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000565
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
45595873
46600026
1004154
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001288
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
46434490
46831000
396511
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001664
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
46458122
47683579
1225458
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002394
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
45287256
45734078
446823
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004559
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
47751322
47767410
16089
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005116
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
45481858
45710518
228661
GRCh38
Deletion
Yes
krumm_13_ASD_discovery_cases-case11029.p1
N/A
F
ASD
ASD proband from SSC quad family 11029. SRS score of 90.
Full-scale IQ (FSIQ) score of 29.
44990849
44992400
1552
GRCh38
Deletion
Yes
krumm_13_ASD_discovery_cases-case12840.p1
N/A
M
ASD
ASD proband from SSC quad family 12840. SRS score of 90.
Full-scale IQ (FSIQ) score of 54.
45615801
45616853
1053
GRCh38
Deletion
No (not tested)
krumm_13_ASD_discovery_cases-case13116.p1
N/A
F
ASD
ASD proband from SSC quad family 13116. SRS score of 90.
Full-scale IQ (FSIQ) score of 35.
45345541
45398318
52778
GRCh38
Duplication
No (not tested)
krumm_15_ASD_discovery_cases-case12636.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
47130929
47143607
12679
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_cases-case13237.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
44914891
44919230
4340
GRCh38
Deletion
Yes
krumm_15_ASD_discovery_cases-case13287.p1
N/A
Female
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
45348645
45398318
49674
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_cases-case13690.p1
N/A
Female
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Trio
45346543
45398318
51776
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_cases-case14075.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
44944748
44945305
558
GRCh38
Deletion
Yes
pinto_10_ASD_discovery_cases-case3181_007
NA
M
Autism
No language delay, no dysmorphic features, height and weight 29th centiles, no epilepsy
Above average IQ
47272198
47450914
178717
GRCh38
Deletion
Yes
pinto_10_ASD_discovery_cases-case5108_3
NA
M
ASD
No language delay, no epilepsy, normal physical and neurological exams
Average IQ
52318905
52334620
15716
Unknown
Duplication
Yes
pinto_10_ASD_discovery_cases-case5443_5
NA
M
ASD
NA
NA
45459541
45707107
247567
GRCh38
Duplication
Yes
pinto_14_ASD_discovery_cases2-case16097_1571153001
N/A
M
ASD
Clinical profile: N/A.
Cognitive profile: N/A.
47793971
47903117
109147
GRCh38
Deletion
Yes
poultney_13_ASD_discovery_cases-case99HI0841A
N/A
M
ASD
ASD case from AGRE (AGRE ID AU058504; NDAR ID NDAR_INVNN525TBD)
45349427
45398320
48894
GRCh38
Duplication
No
poultney_13_ASD_discovery_cases-caseHI4823
N/A
F
ASD
ASD case from AGRE (AGRE ID AU1644303; NDAR ID N/A)
45350952
45385730
34779
GRCh38
Duplication
No
prasad_12_ASD_discovery_cases-case100573L
NA
F
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
53585289
53599014
13726
Unknown
Deletion
No
prasad_12_ASD_discovery_cases-case100680L
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
50652644
50902345
249702
Unknown
Duplication
No
prasad_12_ASD_discovery_cases-case121091
NA
F
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
50303970
50313671
9702
Unknown
Duplication
No
prasad_12_ASD_discovery_cases-case124475
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
52315324
52340052
24729
Unknown
Duplication
Yes
prasad_12_ASD_discovery_cases-case44644
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
52315324
52340052
24729
Unknown
Duplication
Yes
prasad_12_ASD_discovery_cases-case45554
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
52315324
52340052
24729
Unknown
Duplication
Yes
prasad_12_ASD_discovery_cases-case47029
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
50993960
51003348
9389
Unknown
Deletion
No
prasad_12_ASD_discovery_cases-case51253
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
51737541
51753164
15624
Unknown
Deletion
No
prasad_12_ASD_discovery_cases-case82366
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
53589842
53599014
9173
Unknown
Deletion
No
prasad_12_ASD_discovery_cases-case85287L
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
52415697
52433151
17455
Unknown
Deletion
Yes
prasad_12_ASD_discovery_cases-case90278
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
52315324
52366182
50859
Unknown
Duplication
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.
46251278
46348669
97392
GRCh38
Duplication
Yes
sajan_13_ACC/CBLH/PMG_discovery_cases-caseLR02-109
N/A
N/A
ACC
Diagnosis of agenesis of the corpus callosum (ACC). ASD: possible diagnosis. Seizures: N/A.
Developmental delay: yes. Intellectual disability: Possibly mild.
46225600
46281358
55759
GRCh38
Duplication
Yes
sajan_13_ACC/CBLH/PMG_discovery_cases-caseLR04-069
N/A
N/A
PMG
Diagnosis of polymicrogyria (PMG).
46216389
46281358
64970
GRCh38
Duplication
Yes
sanders_11_ASD_discovery_cases-11085.p1
10.4
M
Autism
NA
Full-scale IQ, 61; non-verbal IQ, 68; verbal IQ, 51
46119519
46123418
3900
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11242.p1
5.8
M
Autism
NA
Full-scale IQ, 94; non-verbal IQ, 97; verbal IQ, 93
45566781
45573123
6343
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11245.p1
10.9
M
Autism
NA
Full-scale IQ, 111; non-verbal IQ, 107; verbal IQ, 117
46119100
46123418
4319
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11916.p1
4.8
F
Autism
NA
Full-scale IQ, 111; non-verbal IQ, 111; verbal IQ, 107
46410492
46416646
6155
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12152.p1
8.5
M
Autism
NA
Full-scale IQ, 114; non-verbal IQ, 111; verbal IQ, 118
46119519
46123418
3900
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12405.p1
6.3
M
Autism
NA
Full-scale IQ, 101; non-verbal IQ, 102; verbal IQ, 99
48568499
48569008
510
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
46455750
46457709
1960
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12739.p1
6.8
M
ASD
NA
Full-scale IQ, 98; non-verbal IQ, 112; verbal IQ, 77
46119519
46123418
3900
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12761.p1
5.4
M
Autism
NA
Full-scale IQ, 102; non-verbal IQ, 109; verbal IQ, 89
46119519
46123418
3900
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12832.p1
6.3
F
Autism
NA
Full-scale IQ, 53; non-verbal IQ, 58; verbal IQ, 51
46068410
46077896
9487
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-13226.p1
8.7
M
ASD
NA
Full-scale IQ, 85; non-verbal IQ, 87; verbal IQ, 85
46263722
46281358
17637
GRCh38
Deletion
No
wolfe_16_ID_discovery_cases-DECIPHER327129
58 yrs.
F
Intellectual disability and bipolar disorder
Psychiatric history: bipolar disorder. Mini PAS-ADD evaluation: depression, psychosis. BPI-S evaluation: at least weekly aggressive/destructive behavior. Medical history: epilepsy, incontinence, cataracts, broad-based gait. Dysmorphic features: short upturned nose. Growth parameters: height 148 cm, head circumference 55 cm. Ethnicity: white (British).
Mild intellectual disability
45238482
46764879
1526398
GRCh38
Deletion
Yes
yin_16_ASD_discovery_cases-case556
N/A
N/A
ASD
Cases diagnosed with autistic disorder according to DSM-IV and confirmed by using the Chinese version of ADI-R.
46779587
46915131
135545
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-controlB585761_1007853833
N/A
N/A
Control
No previous psychiatric history
45332725
45398041
65317
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlB906859_1007845326
N/A
N/A
Control
No previous psychiatric history
45332725
45389286
56562
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlHABC_900204_900204
N/A
N/A
Control
No previous psychiatric history
45327689
45389286
61598
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlHABC_900507_900507
N/A
N/A
Control
No previous psychiatric history
46496475
46547902
51428
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlHABC_900830_900830
N/A
N/A
Control
No previous psychiatric history
47776532
47812422
35891
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlHABC_901044_901044
N/A
N/A
Control
No previous psychiatric history
47751082
47900226
149145
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlHABC_901075_901075
N/A
N/A
Control
No previous psychiatric history
45356944
45398041
41098
GRCh38
Duplication
No
krumm_13_ASD_discovery_controls-control11029.s1
N/A
M
Control
Unaffected sibling from SSC quad family 11029. SRS score of 41.
44990849
44992400
1552
GRCh38
Deletion
Yes
krumm_13_ASD_discovery_controls-control11085.s1
N/A
F
Control
Unaffected sibling from SSC quad family 11085. SRS score of 39.
45345541
45396436
50896
GRCh38
Duplication
No (not tested)
krumm_13_ASD_discovery_controls-control12840.s1
N/A
F
Control
Unaffected sibling from SSC quad family 12840. SRS score of 39.
45615801
45616853
1053
GRCh38
Deletion
No (not tested)
krumm_13_ASD_discovery_controls-control13116.s1
N/A
F
Control
Unaffected sibling from SSC quad family 13116. SRS score of 42.
45347446
45398318
50873
GRCh38
Duplication
No (not tested)
krumm_13_ASD_discovery_controls-control14201.s1
N/A
F
Control
Unaffected sibling from SSC quad family 14201. SRS score of 45.
44780904
44793620
12717
GRCh38
Duplication
No (not tested)
krumm_15_ASD_discovery_controls-control11085.s1
N/A
Female
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
45345541
45398147
52607
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_controls-control12033.s1
N/A
Male
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
46775509
46784559
9051
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_controls-control12447.s1
N/A
Female
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
45370532
45380228
9697
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_controls-control13237.s1
N/A
Female
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
44914891
44919230
4340
GRCh38
Deletion
Yes
krumm_15_ASD_discovery_controls-control14075.s1
N/A
Male
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
44942277
44945305
3029
GRCh38
Deletion
Yes
krumm_15_ASD_discovery_controls-control14187.s1
N/A
Male
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
45345541
45398318
52778
GRCh38
Duplication
Yes
levy_11_ASD_discovery_controls-12239.s2
NA
M
Control
NA
NA
45332971
45398791
65821
GRCh38
Duplication
No
nord_11_ASD_discovery_controls-04C27275
Control
52315728
52338849
23122
Unknown
Duplication
poultney_13_ASD_discovery_controls-control05C40311A
N/A
F
Control
NIMH Control (NIMH ID 33535)
45349427
45398320
48894
GRCh38
Duplication
No
prasad_12_ASD_discovery_controls-control1
NA
NA
Control
NA
52315324
52340052
24729
Unknown
Duplication
No
sanders_11_ASD_discovery_controls-11085.s1
8.5
F
Control (matched sibling)
NA
NA
45332725
45398041
65317
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11220.s1
13.6
F
Control (matched sibling)
NA
NA
48573769
48580236
6468
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11379.s1
8.3
F
Control (matched sibling)
NA
NA
46263722
46281358
17637
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11400.s1
10.8
F
Control (matched sibling)
NA
NA
44808490
44810480
1991
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12033.s1
12.2
M
Control (matched sibling)
NA
NA
46783912
46805409
21498
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-12152.s1
6.8
M
Control (matched sibling)
NA
NA
46119519
46123418
3900
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12231.s1
12.3
F
Control (matched sibling)
NA
NA
46256322
46284763
28442
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12327.s1
16.3
F
Control (matched sibling)
NA
NA
46119519
46123418
3900
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-13226.s1
10.3
F
Control (matched sibling)
NA
NA
46263722
46281358
17637
GRCh38
Deletion
No
Cases
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
brandler_18_ASD_discovery_cases-caseSSC08732
PCR or SNP data validation
Paternal
CLPTM1
brandler_18_ASD_discovery_cases-caseSSC09431
SNP VCF
De novo
SAE1
engchuan_15_ASD_discovery_cases-case16097_1571153001
Unknown
RPL23AP80,TPRX2P,LINC01595,TPRX1,SULT2A1,CRX
engchuan_15_ASD_discovery_cases-case3181_7
Unknown
INAFM1,CCDC9,C5AR2,DHX34,MEIS3,C5AR1,SLC8A2
engchuan_15_ASD_discovery_cases-case4150_1
Unknown
OPA3,GPR4,EML2
engchuan_15_ASD_discovery_cases-case4268_1
Unknown
IGFL1P1,RPL12P41,IGFL1,IGFL1P2,IGFL2-AS1
engchuan_15_ASD_discovery_cases-case4296_1
Unknown
SAE1
engchuan_15_ASD_discovery_cases-case4519_1
Unknown
LIG1,ZSWIM9,PLA2G4C
engchuan_15_ASD_discovery_cases-case5397_3
Unknown
PPP1R13L,KLC3,ERCC2
engchuan_15_ASD_discovery_cases-case5443_5
Unknown
FOSB,RTN2,MIR330,EML2-AS1,RN7SL836P,MIR642A,MIR642B,SNRPD2,ERCC1,PPM1N,VASP,OPA3,GPR4,GIPR,QPCTL,EML2
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000565
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
MIR330,EML2-AS1,RN7SL836P,MIR642A,MIR642B,SNRPD2,SIX5,DM1-AS,DMWD,FOXA3,IRF2BP1,NANOS2,MIR769,IGFL1P1,RPL12P41,IGFL1,IGFL1P2,RNU6-924P,CCDC8,PNMA8C,PNMA8A,PNMA8B,GAPDHP38,OPA3,GPR4,GIPR,QPCTL,FBXO46,DMPK,RSPH6A,SYMPK,MYPOP,NOVA2,PGLYRP1,IGFL4,IGFL3,IGFL2,IGFL2-AS1,HIF3A,PPP5C,EML2,BHMG1,CCDC61,PPP5D1,TGIF1P1
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001288
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Paternal
Unknown
Unknown
PNMA8A,PNMA8B,GAPDHP38,CALM3,PTGIR,GNG8,DACT3,RN7SL364P,MIR320E,HNRNPMP2,PRKD2,STRN4,FKRP,SLC1A5,PPP5D1,DACT3-AS1
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001664
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
De novo
Unknown
Unknown
PNMA8A,PNMA8B,GAPDHP38,CALM3,PTGIR,GNG8,DACT3,RN7SL364P,MIR320E,HNRNPMP2,TMEM160,BBC3,MIR3190,MIR3191,INAFM1,RN7SL322P,BICRA-AS1,PRKD2,STRN4,FKRP,SLC1A5,AP2S1,NPAS1,ZC3H4,CCDC9,C5AR2,DHX34,MEIS3,KPTN,NAPA-AS1,NAPA,ZNF541,BICRA,PPP5D1,DACT3-AS1,ARHGAP35,C5AR1,SLC8A2,SAE1
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002394
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Maternal
Unknown
Unknown
RPS16P9,CD3EAP,MIR6088,FOSB,RTN2,MIR330,EML2-AS1,RN7SL836P,MIR642A,MIR642B,SNRPD2,CKM,PPP1R13L,ERCC1,PPM1N,VASP,OPA3,GPR4,GIPR,QPCTL,FBXO46,KLC3,ERCC2,EML2,BHMG1,MARK4
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004559
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
NOP53,SNORD23,NOP53-AS1
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005116
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
RTN2,MIR330,EML2-AS1,RN7SL836P,MIR642A,MIR642B,SNRPD2,PPM1N,VASP,OPA3,GPR4,GIPR,QPCTL,EML2
krumm_13_ASD_discovery_cases-case11029.p1
aCGH (Agilent SurePrint G3 4x180K)
Maternal
Simplex
Not segregated
CLPTM1
krumm_13_ASD_discovery_cases-case12840.p1
Maternal
Simplex
Not segregated
EML2
krumm_13_ASD_discovery_cases-case13116.p1
Paternal
Simplex
Not segregated
PPP1R13L,KLC3,ERCC2
krumm_15_ASD_discovery_cases-case12636.p1
Illumina 1MDuo
Paternal
Simplex
Segregated
SAE1
krumm_15_ASD_discovery_cases-case13237.p1
1M-Duov3
Maternal
Simplex
Not segregated (CNV in unaffected sibling)
APOC1
krumm_15_ASD_discovery_cases-case13287.p1
1M-Duov3
Paternal
Simplex
Segregated
PPP1R13L,KLC3,ERCC2
krumm_15_ASD_discovery_cases-case13690.p1
Omni2.5-4v1
Maternal
Simplex
Segregated
PPP1R13L,KLC3,ERCC2
krumm_15_ASD_discovery_cases-case14075.p1
Omni2.5-4v1
Maternal
Simplex
Not segregated (CNV in unaffected sibling)
APOC4,APOC4-APOC2
pinto_10_ASD_discovery_cases-case3181_007
nestedLR-PCR-Maternal
maternal
Simplex
NA
INAFM1,CCDC9,C5AR2,DHX34,MEIS3,C5AR1,SLC8A2
pinto_10_ASD_discovery_cases-case5108_3
qPCR
paternal
Multiplex
Unknown
SAE1 exonic
pinto_10_ASD_discovery_cases-case5443_5
Agilent1M
maternal
NA
NA
FOSB,RTN2,MIR330,EML2-AS1,RN7SL836P,MIR642A,MIR642B,SNRPD2,ERCC1,PPM1N,VASP,OPA3,GPR4,GIPR,QPCTL,EML2
pinto_14_ASD_discovery_cases2-case16097_1571153001
qPCR
Maternal
Simplex
Unknown (brother with ADHD not tested)
RPL23AP80,TPRX2P,LINC01595,TPRX1,SULT2A1,CRX
poultney_13_ASD_discovery_cases-case99HI0841A
Unknown
Unknown (likely multiplex/AGRE)
Unknown
PPP1R13L,KLC3,ERCC2
poultney_13_ASD_discovery_cases-caseHI4823
Unknown
Unknown (likely multiplex/AGRE)
Unknown
PPP1R13L,KLC3,ERCC2
prasad_12_ASD_discovery_cases-case100573L
Unknown
Unknown
Unknown
KDELR1,GRIN2D
prasad_12_ASD_discovery_cases-case100680L
Unknown
Unknown
Unknown
SNRPD2,GPR4,EML2,PPM1N,FOSB,MIR642B,RTN2,LOC100287177,MIR330,OPA3,MIR642A,QPCTL,VASP,GIPR
prasad_12_ASD_discovery_cases-case121091
Unknown
Unknown
Unknown
0 genes
prasad_12_ASD_discovery_cases-case124475
qPCR
Unknown
Simplex
Segregated
SAE1
prasad_12_ASD_discovery_cases-case44644
qPCR
Paternal
Multiplex
Segregated
SAE1
prasad_12_ASD_discovery_cases-case45554
qPCR
Paternal
Multiplex
Segregated
SAE1
prasad_12_ASD_discovery_cases-case47029
Unknown
Unknown
Unknown
RSPH6A
prasad_12_ASD_discovery_cases-case51253
Unknown
Unknown
Unknown
LOC100506012
prasad_12_ASD_discovery_cases-case82366
Unknown
Unknown
Unknown
GRIN2D
prasad_12_ASD_discovery_cases-case85287L
qPCR
Maternal
Unknown
Unknown
BBC3,MIR3190,MIR3191
prasad_12_ASD_discovery_cases-case90278
Unknown
Unknown
Unknown
SAE1
sajan_13_ACC/CBLH/PMG_discovery_cases-case1303-0
qPCR
Unknown
Unknown
Unknown
IGFL1P2,RNU6-924P,HIF3A,PPP5C
sajan_13_ACC/CBLH/PMG_discovery_cases-caseLR02-109
qPCR
Paternal
Unknown
Unknown
IGFL1,IGFL1P2
sajan_13_ACC/CBLH/PMG_discovery_cases-caseLR04-069
qPCR
Unknown
Unknown
Unknown
RPL12P41,IGFL1,IGFL1P2
sanders_11_ASD_discovery_cases-11085.p1
Paternal
Simplex (quad-proband matched)
Segregated
IGFL3
sanders_11_ASD_discovery_cases-11242.p1
Maternal
Simplex (quad-proband matched)
Not segregated
OPA3
sanders_11_ASD_discovery_cases-11245.p1
Paternal
Simplex (quad-proband matched)
Not segregated
IGFL3
sanders_11_ASD_discovery_cases-11916.p1
Unknown
Simplex (quad-proband matched)
Not segregated
CCDC8
sanders_11_ASD_discovery_cases-12152.p1
Maternal
Simplex (quad-proband matched)
Not segregated
IGFL3
sanders_11_ASD_discovery_cases-12405.p1
Both parents
Simplex (trio)
NA
SULT2B1
sanders_11_ASD_discovery_cases-12701.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12739.p1
Paternal
Simplex (quad-proband matched)
Not segregated
IGFL3
sanders_11_ASD_discovery_cases-12761.p1
Maternal
Simplex (trio)
NA
IGFL3
sanders_11_ASD_discovery_cases-12832.p1
Unknown
Simplex (quad-proband matched)
Not segregated
IGFL4
sanders_11_ASD_discovery_cases-13226.p1
Maternal
Simplex (quad-proband matched)
Not segregated
wolfe_16_ID_discovery_cases-DECIPHER327129
qPCR, FISH, or QF-PCR
Unknown
Unknown
Unknown
RPS16P9,CD3EAP,MIR6088,FOSB,RTN2,MIR330,EML2-AS1,RN7SL836P,MIR642A,MIR642B,SNRPD2,SIX5,DM1-AS,DMWD,FOXA3,IRF2BP1,NANOS2,MIR769,IGFL1P1,RPL12P41,IGFL1,IGFL1P2,RNU6-924P,CCDC8,PNMA8C,PNMA8A,PNMA8B,GAPDHP38,CALM3,PTGIR,GNG8,DACT3,RN7SL364P,MIR320E,CKM,PPP1R13L,ERCC1,PPM1N,VASP,OPA3,GPR4,GIPR,QPCTL,FBXO46,DMPK,RSPH6A,SYMPK,MYPOP,NOVA2,PGLYRP1,IGFL4,IGFL3,IGFL2,IGFL2-AS1,HIF3A,PPP5C,PRKD2,STRN4,FKRP,EXOC3L2,KLC3,ERCC2,EML2,BHMG1,CCDC61,PPP5D1,DACT3-AS1,MARK4,TGIF1P1
yin_16_ASD_discovery_cases-case556
Unknown
Unknown
Unknown
HNRNPMP2,SLC1A5,AP2S1
Controls
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
engchuan_15_ASD_discovery_controls-controlB585761_1007853833
Unknown
RPS16P9,PPP1R13L,KLC3,ERCC2
engchuan_15_ASD_discovery_controls-controlB906859_1007845326
Unknown
RPS16P9,PPP1R13L,KLC3,ERCC2
engchuan_15_ASD_discovery_controls-controlHABC_900204_900204
Unknown
RPS16P9,PPP1R13L,KLC3,ERCC2
engchuan_15_ASD_discovery_controls-controlHABC_900507_900507
Unknown
PNMA8B,PPP5D1
engchuan_15_ASD_discovery_controls-controlHABC_900830_900830
Unknown
SELENOW,RPL23AP80,TPRX1
engchuan_15_ASD_discovery_controls-controlHABC_901044_901044
Unknown
NOP53,SNORD23,SELENOW,RPL23AP80,TPRX2P,LINC01595,NOP53-AS1,TPRX1,SULT2A1,CRX
engchuan_15_ASD_discovery_controls-controlHABC_901075_901075
Unknown
PPP1R13L,ERCC2
krumm_13_ASD_discovery_controls-control11029.s1
aCGH (Agilent SurePrint G3 4x180K)
Maternal
Simplex
CLPTM1
krumm_13_ASD_discovery_controls-control11085.s1
Maternal
Simplex
PPP1R13L,KLC3,ERCC2
krumm_13_ASD_discovery_controls-control12840.s1
Maternal
Simplex
EML2
krumm_13_ASD_discovery_controls-control13116.s1
Paternal
Simplex
PPP1R13L,KLC3,ERCC2
krumm_13_ASD_discovery_controls-control14201.s1
Paternal
Simplex
CBLC
krumm_15_ASD_discovery_controls-control11085.s1
Illumina 1M
Maternal
PPP1R13L,KLC3,ERCC2
krumm_15_ASD_discovery_controls-control12033.s1
Illumina 1MDuo
Maternal
FKRP,SLC1A5
krumm_15_ASD_discovery_controls-control12447.s1
Illumina 1MDuo
De novo
PPP1R13L,ERCC2
krumm_15_ASD_discovery_controls-control13237.s1
1M-Duov3
Maternal
APOC1
krumm_15_ASD_discovery_controls-control14075.s1
Omni2.5-4v1
Maternal
APOC4,APOC4-APOC2
krumm_15_ASD_discovery_controls-control14187.s1
Omni2.5-4v1
Paternal
PPP1R13L,KLC3,ERCC2
levy_11_ASD_discovery_controls-12239.s2
Maternal
Simplex
NA
RPS16P9,PPP1R13L,KLC3,ERCC2
nord_11_ASD_discovery_controls-04C27275
SAE1
poultney_13_ASD_discovery_controls-control05C40311A
Unknown
PPP1R13L,KLC3,ERCC2
prasad_12_ASD_discovery_controls-control1
Unknown
SAE1
sanders_11_ASD_discovery_controls-11085.s1
Unknown
Simplex (quad)
NA
RPS16P9,PPP1R13L,KLC3,ERCC2
sanders_11_ASD_discovery_controls-11220.s1
Maternal
Simplex (quad)
NA
SULT2B1
sanders_11_ASD_discovery_controls-11379.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11400.s1
Unknown
Simplex (quad)
NA
BCAM
sanders_11_ASD_discovery_controls-12033.s1
Maternal
Simplex (quad)
NA
SLC1A5
sanders_11_ASD_discovery_controls-12152.s1
Maternal
Simplex (quad)
NA
IGFL3
sanders_11_ASD_discovery_controls-12231.s1
Paternal
Simplex (quad)
NA
IGFL1P2
sanders_11_ASD_discovery_controls-12327.s1
Maternal
Simplex (quad)
NA
IGFL3
sanders_11_ASD_discovery_controls-13226.s1
Maternal
Simplex (quad)
NA
No Animal Model Data Available