7p14.3CNV Type: Deletion-Duplication
Largest CNV size: 103626 bp
Statistics Box:
Number of Reports: 20
Number of Reports: 20
Summary Information
Summary statement in development
Additional Locus Information
References
Major Reports
Title
Author, Year
Report Class
CNV Type
Autism genome-wide copy number variation reveals ubiquitin and neuronal genes.
Duplication
Functional impact of global rare copy number variation in autism spectrum disorders.
Duplication
An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabili...
Duplication
Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations.
Duplication
Microduplications at the pseudoautosomal SHOX locus in autism spectrum disorders and related neurodevelopmental conditions.
Deletion
Minor Reports
Title
Author, Year
Report Class
CNV Type
Rare structural variation of synapse and neurotransmission genes in autism.
Duplication
Reduced transcript expression of genes affected by inherited and de novo CNVs in autism.
Duplication
Multiple recurrent de novo CNVs, including duplications of the 7q11.23 Williams syndrome region, are strongly associated with autism.
Deletion-Duplication
A discovery resource of rare copy number variations in individuals with autism spectrum disorder.
Deletion
Transmission disequilibrium of small CNVs in simplex autism.
Duplication
Identification of small exonic CNV from whole-exome sequence data and application to autism spectrum disorder.
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
Copy number variation in Han Chinese individuals with autism spectrum disorder.
Duplication
Performance of case-control rare copy number variation annotation in classification of autism.
Duplication
The Role of mGluR Copy Number Variation in Genetic and Environmental Forms of Syndromic Autism Spectrum Disorder.
Duplication
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
bitar_19_ASD_discovery_cases
ASD cases selected through specialized institutions and NGOs specializing in mental disorders throughout Lebanon
19
Cases diagnosed with ASD using DSM-IV criteria and CARS
N/A
84.21% Male
276000
0
1
1
digregorio_17_DD/ID_discovery_cases
Consecutive cases examined in the Medical Genetics Unit at the "Citta della Salte e della Scienza" University Hospital (Turin, Italy) from 2008 to 2014 (cases with CNVs are present in DECIPHER database)
1015
Cases diagnosed with idiopathic developmental delay and/or intellectual disability (DD/ID)
N/A
N/A
288000
0
1
1
engchuan_15_ASD_discovery_cases
Samples from the Autism Genome Project (AGP)
1892
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
N/A
85.78% Male
59740
0
7
7
gai_11_ASD_discovery_cases
Discovery case samples derived from AGRE set 4 (most recent patient recruitment)
631
Idiopathic autism; cases designated as 'spectrum' and 'not quite autism' excluded, as were cases with known genetic syndromes or other non-idiopathic causes
214173
0
2
2
gazzellone_14_ASD_discovery_cases
ASD-affected individuals referred to the Children Development and Behavior Research Center (CDRBC) at Harbin Medical University, China, between January 2007 and June 2011.
104
Diagnosis of ASD made using Autism Behavior Checklist (ABC) and Childhood Autism Rating Scale (CARS)
Mean age at enrollment, 4.31 1.80 yrs.
87.5% Male
239984
0
1
1
glessner_09_ASD_discovery_cases
Autism Case-Control (ACC) case cohort: 54% from simplex families, 46% from multiplex families
859
859 autism (ADI). 708 autism, 124 ASD, 27 not autism (based on ADOS)
Range, 2-21
81.8% Male
103626
0
4
4
glessner_09_ASD_replication_cases
Autism Genetic Resource Exchange (AGRE) case cohort: 5% from simplex families, 95% from multiplex families
1336
1202 autism, 134 ASD (AGRE status). 775 autism, 171 ASD, 76 not ASD or autism (based on ADOS)
Mean, 9.2 5.3
78.7% Male
103626
0
0
0
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
16864
0
1
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
83797
0
2
2
krumm_15_ASD_discovery_cases
Probands from the Simons Simplex Collection
2377
Diagnosis of ASD
N/A
N/A
301095
0
11
11
maini_18_ASD/DD/ID_discovery_cases
Patients evaluated at the Clinical Genetics Unit of Arcispedale Santa Maria Nuova, AUSL-IRCCS of Reggio Emilia that were investigated through aCGH between 2005 and 2016
293
Cases presented with one or more neurodevelopmental disorders (NDD), multiple congenital anomalies (MCA), and/or dysmorphic features. Most frequent neurodevelopmental diagnoses include language delay (78.5%), intellectual disability (66.4%), motor delay (50.7%), and ASD (13.9%); dysmorphic features were also frequently observed (52.7%)
Mean age, 7 yrs. (range, 1 mo.-29 yrs.)
57.5% Male
288000
0
1
1
nord_11_ASD_discovery_cases
Youth with ASD (as part of mother-father-child trios)
41
ASD
85.4% Male
186757
0
2
2
o'roak_12_ASD_discovery_cases
Autistic probands from the Simons Simplex Collection (SSC), from an initial cohort of 189 autism families
122
ASD/autism
NA
NA
56451
0
1
1
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
59741
0
3
3
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)
49098
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
8009
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
211967
0
2
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
59740
5
5
10
tropeano_16_ASD_discovery_cases
ASD cases from the Maudsley Adult Autism clinic discovery series (Maudsley Hospital, London, United Kingdom)
90
Diagnosis of ASD according to ICD-10 and confirmed using ADOS and ADI-R.
Adult age (20 yrs.+)
N/A
2481110
1
0
1
wenger_16_ASD_discovery_cases
ASD cases with CNVs containing genes involved in the mGluR network from an initial cohort of 539 cases
62
ASD
N/A
N/A
181533
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
202389
1
0
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
219095
1
13
14
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
173376
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
51131
0
1
1
krumm_15_ASD_discovery_controls
Unaffected siblings from quad families from the Simons Simplex Collection
1786
Control
N/A
N/A
119255
1
5
6
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.
15043
1
0
1
poultney_13_ASD_discovery_controls
Controls matched for European ancestry from NIMH and CEPH retained after filtering (original cohort size of 379 controls)
260
Control
N/A
47.49% Male (before filtering)
548083
1
0
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)
8009
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.
214040
8
2
10
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
202389
0
0
0
Cases
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
bitar_19_ASD_discovery_cases
Lebanon
aCGH
Agilent SurePrint G3 2x400K
ADM-2
Agilent Cytogenomics v.3.0.6.6, Agilent Feature Extraction
qPCR
digregorio_17_DD/ID_discovery_cases
Italian
aCGH
Agilent 60K (SurePrint G3 Human CGH Microarray 8x60K)
ADM-2
Agilent CGH Analytics software ver. 4.0.81
None
engchuan_15_ASD_discovery_cases
Caucasian
Solid phase hybridization
Illumina 1M
None
gai_11_ASD_discovery_cases
European
Solid phase hybridization
Illumina Infinium II HumanHap550 BeadChip
BeadStudio 3.0
None
gazzellone_14_ASD_discovery_cases
Han Chinese
Array SNP
Affymetrix CytoScan HD
ChAS, iPattern, Nexus, Partek
None
glessner_09_ASD_discovery_cases
European
Solid phase hybridization
HumanHap550 BeadChip
PennCNV
qPCR, MLPA, array SNP
glessner_09_ASD_replication_cases
European
Solid phase hybridization
HumanHap550 BeadChip
PennCNV
qPCR, MLPA, array SNP
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)
maini_18_ASD/DD/ID_discovery_cases
Italian
aCGH, array SNP
Multiple platforms, including Agilent and Affymetrix arrays (8x60K oligochips since 2012)
None
nord_11_ASD_discovery_cases
29 European American, 3 Asian American, 2 Hispanic, 2 African American, 5 unknown ancestry
aCGH
NimbleGen HD2
Sliding-window algorithm, ~10 kb minumum size threshold
None
o'roak_12_ASD_discovery_cases
NA
WES
NimbleGen EZ Exome V2.0, Illumina GAIIx or HiSeq2000
HMM
mrsFAST aligner
aCGH, Sanger sequencing
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)
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
sajan_13_ACC/CBLH/PMG_discovery_cases
81.31% Caucasian
Solid phase hybridization
Illumina InfiniumII HumanHap610
PennCNV
None (not tested or failure to confirm by 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
tropeano_16_ASD_discovery_cases
United Kingdom
aCGH
Agilent 60K
ADM-2
Agilent Feature Extraction, Agilent Genomic Workbench
MLPA, aCGH
wenger_16_ASD_discovery_cases
N/A
Solid phase hybridization
Illumina HumanHap 550 or Illumina Human610-Quad v1.0
PennCNV
None
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
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
glessner_09_ASD_discovery_controls
Caucasian
Solid phase hybridization
HumanHap550 BeadChip
PennCNV
glessner_09_ASD_replication_controls
Caucasian
Solid phase hybridization
HumanHap550 BeadChip
PennCNV
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)
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
bitar_19_ASD_discovery_cases-case114
N/A
M
ASD
Case diagnosed with ASD using DSM-IV criteria and CARS. Behavioral/psychiatric evaluation: depression, hyperactivity, fear, anxiety. Additional medical history: deafness. Family history: born to non-consanguineous parents; family history not available.
32186907
32462981
276075
GRCh38
Duplication
Yes
digregorio_17_DD/ID_discovery_cases-DECIPHER_300210
N/A
F
Developmental delay/intellectual disability
29192372
29480364
287993
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case1116_4
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
33087927
33147667
59741
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case1240_3
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
33087927
33147667
59741
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case13154_1713
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
33092117
33147667
55551
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case14214_3450
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
33092117
33147667
55551
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case3313_3
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
33092117
33147667
55551
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case5216_3
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
33093595
33147667
54073
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case6142_3
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
33087927
33147667
59741
GRCh38
Duplication
No
gai_11_ASD_discovery_cases-AU1197301
Autism
32169747
32383787
214041
GRCh38
Duplication
No
gai_11_ASD_discovery_cases-AU1197302
Autism
32169615
32383787
214173
GRCh38
Duplication
No
gazzellone_14_ASD_discovery_cases-case505-3
N/A
M
ASD
ASD; no other clinical information provided
N/A
31642151
31882136
239986
GRCh38
Duplication
No
glessner_09_ASD_discovery_cases-AU15404
NA
ASD
NA
NA
32660950
32764576
103627
GRCh38
Duplication
No
glessner_09_ASD_discovery_cases-AU33404
NA
ASD
NA
NA
32660950
32764576
103627
GRCh38
Duplication
No
glessner_09_ASD_discovery_cases-AU41703
NA
ASD
NA
NA
32660950
32764576
103627
GRCh38
Duplication
Yes
glessner_09_ASD_discovery_cases-AU69803
NA
ASD
NA
NA
32660950
32764576
103627
GRCh38
Duplication
No
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002350
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
33130103
33146967
16865
GRCh38
Duplication
Yes
krumm_13_ASD_discovery_cases-case12473.p1
N/A
M
ASD
ASD proband from SSC quad family 12473. SRS score of 88.
Full-scale IQ (FSIQ) score of 49.
33905613
33974784
69172
GRCh38
Duplication
No (not tested)
krumm_13_ASD_discovery_cases-case13412.p1
N/A
M
ASD
ASD proband from SSC quad family 13412. SRS score of 90.
Full-scale IQ (FSIQ) score of 33.
33062567
33146364
83798
GRCh38
Duplication
No (not tested)
krumm_15_ASD_discovery_cases-case11043.p1
N/A
Female
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Trio
33096492
33146364
49873
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_cases-case11106.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
31577862
31697117
119256
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_cases-case11346.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Trio
33095233
33146364
51132
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_cases-case11396.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Trio
33096492
33146364
49873
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_cases-case12121.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
33095233
33146364
51132
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_cases-case12667.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Trio
33096492
33146364
49873
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_cases-case13412.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
33095233
33146364
51132
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_cases-case13531.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
33095233
33146364
51132
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_cases-case13578.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
33096492
33146364
49873
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_cases-case14046.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
33095233
33146364
51132
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_cases-case14237.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
29194941
29496036
301096
GRCh38
Duplication
Yes
maini_18_ASD/DD/ID_discovery_cases-case_unknown186
N/A
N/A
NDD/MCA/dysmorphic features
CNV was identified in an individual with one or more neurodevelopmental disorders (NDD), multiple congenital anomalies (MCA), and/or dysmorphic features (detailed clinical information was not available). CNV classified as variant of unknown significance-likely benign (VOUS-LB)
29192372
29480306
287935
GRCh38
Duplication
No
nord_11_ASD_discovery_cases-209-1
ASD
33882259
33903411
21153
Unknown
Duplication
No
nord_11_ASD_discovery_cases-242-1
ASD
34911248
35098004
186757
Unknown
Duplication
No
o'roak_12_ASD_discovery_cases-case11346.p1
NA
M
ASD/Autism
Case also identified with de novo CNST missense mutation and de novo SLC17A6 synonymous mutation. No additional clinical info available.
High IQ. Non verbal IQ, 132
33091216
33147667
56452
GRCh38
Duplication
Yes
pinto_10_ASD_discovery_cases-case1116_4
NA
M
ASD
NA
NA
33087927
33147667
59741
GRCh38
Duplication
Yes
pinto_10_ASD_discovery_cases-case1240_3
NA
M
ASD
NA
NA
33087927
33147667
59741
GRCh38
Duplication
Yes
pinto_10_ASD_discovery_cases-case5216_3
NA
M
ASD
NA
NA
33093595
33147667
54073
GRCh38
Duplication
Yes
poultney_13_ASD_discovery_cases-case01HI1926A
N/A
M
ASD
ASD case from AGRE (AGRE ID AU066003; NDAR ID NDAR_INVFE444DNR)
33097269
33146366
49098
GRCh38
Duplication
No
poultney_13_ASD_discovery_cases-case01HI2322A
N/A
M
ASD
ASD case from AGRE (AGRE ID AU027304; NDAR ID NDAR_INVVE717WXZ)
33097269
33146366
49098
GRCh38
Duplication
No
poultney_13_ASD_discovery_cases-case05HI3668A
N/A
M
ASD
ASD case from AGRE (AGRE ID AU1424302; NDAR ID NDAR_INVNV776HU9)
33097269
33146366
49098
GRCh38
Duplication
No
prasad_12_ASD_discovery_cases-case78621
NA
F
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
34110362
34118370
8009
Unknown
Deletion
No
sajan_13_ACC/CBLH/PMG_discovery_cases-case1006-0
N/A
M
ACC
Diagnosis of agenesis of the corpus callosum (ACC). ASD: no. Seizures: no. Neurological features: spastic diplegic cerebral palsy, hypotonia, hyporeflexia, diminished strength, fine motor delay, visual motor delay. Dysmorphic features: prominent forehead, prominent ears, high arched palate. Ocular and auditory problems: chronic otitis media, hyperopia. Gastrointestinal problems: problems with swallowing, reflux, constipation. Musculoskeletal problems: pectus excavatum. Brain imaging: complete ACC, normal pituitary gland, large ventricle size, no Probst bundles, decreased white matter volume, and abnormal myelination observed on brain MRI.
Developmental delay: yes. Intellectual disability: yes.
32171821
32383787
211967
GRCh38
Duplication
No
sajan_13_ACC/CBLH/PMG_discovery_cases-caseLR08-289
N/A
N/A
PMG
Diagnosis of polymicrogyria (PMG).
33092117
33147667
55551
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11043.p1
8.4
F
Autism
NA
Full-scale IQ, 104; non-verbal IQ, 103; verbal IQ, 106
33092117
33147667
55551
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11346.p1
11
M
Autism
NA
Full-scale IQ, 133; non-verbal IQ, 132; verbal IQ, 121
33087927
33147667
59741
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11396.p1
13.6
M
Autism
NA
Full-scale IQ, 124; non-verbal IQ, 124; verbal IQ, 118
33092117
33147667
55551
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11455.p1
7.6
M
ASD
NA
Full-scale IQ, 68; non-verbal IQ, 73; verbal IQ, 69
32412003
32418209
6207
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
34859623
34871731
12109
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12121.p1
8.5
M
Autism
NA
Full-scale IQ, 130; non-verbal IQ, 134; verbal IQ, 110
33092117
33147667
55551
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12160.p1
8.3
M
Autism
NA
Full-scale IQ, 100; non-verbal IQ, 108; verbal IQ, 86
33290476
33296378
5903
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
34859623
34871731
12109
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12221.p1
4.1
M
Autism
NA
Full-scale IQ, 89; non-verbal IQ, 99; verbal IQ, 76
34859623
34871731
12109
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12667.p1
6.3
M
Autism
NA
Full-scale IQ, 34; non-verbal IQ, 49; verbal IQ, 19
33092117
33147667
55551
GRCh38
Duplication
No
tropeano_16_ASD_discovery_cases-MAAS19
30-39 yrs.
M
ASD
Case diagnosed with autism based on ICD-10 research criteria; diagnosis confirmed using ADOS and ADI-R.
31970800
34451910
2481111
GRCh38
Deletion
Yes
wenger_16_ASD_discovery_cases-case33
N/A
N/A
ASD
Prior clinical diagnosis of genetic syndrome: n/a
32202255
32383787
181533
GRCh38
Duplication
No
yin_16_ASD_discovery_cases-case260
N/A
N/A
ASD
Cases diagnosed with autistic disorder according to DSM-IV and confirmed by using the Chinese version of ADI-R.
30769481
30971870
202390
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-controlB228946_1007854752
N/A
N/A
Control
No previous psychiatric history
32169615
32383787
214173
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlB230179_1007841236
N/A
N/A
Control
No previous psychiatric history
33402258
33510429
108172
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlB291419_1007842029
N/A
N/A
Control
No previous psychiatric history
33092117
33147667
55551
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlB295710_1007841796
N/A
N/A
Control
No previous psychiatric history
33092117
33147667
55551
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlB618029_1007874552
N/A
N/A
Control
No previous psychiatric history
33092117
33147667
55551
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlB752269_1007854332
N/A
N/A
Control
No previous psychiatric history
34913348
35090166
176819
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlB771183_1007874859
N/A
N/A
Control
No previous psychiatric history
32169747
32388842
219096
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlB806145_1007873615
N/A
N/A
Control
No previous psychiatric history
33087927
33147667
59741
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlB828621_0057060997
N/A
N/A
Control
No previous psychiatric history
33092117
33147667
55551
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlHABC_900213_900213
N/A
N/A
Control
No previous psychiatric history
33092117
33147667
55551
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlHABC_900812_900812
N/A
N/A
Control
No previous psychiatric history
33092117
33147667
55551
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlHABC_901191_901191
N/A
N/A
Control
No previous psychiatric history
33092117
33147667
55551
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlHABC_902528_902528
N/A
N/A
Control
No previous psychiatric history
33092117
33147667
55551
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlHABC_903002_903002
N/A
N/A
Control
No previous psychiatric history
33092117
33147667
55551
GRCh38
Duplication
No
girirajan_13b_ASD_discovery_controls-11210113056
N/A
N/A
Control
Ethnicity: Caucasian
N/A
32174460
32347836
173377
GRCh38
Duplication
No
girirajan_13b_ASD_discovery_controls-34108110389
N/A
N/A
Control
Ethnicity: Caucasian
N/A
33241098
33384134
143037
GRCh38
Deletion
No
krumm_13_ASD_discovery_controls-control13116.s1
N/A
F
Control
Unaffected sibling from SSC quad family 13116. SRS score of 42.
33095233
33146364
51132
GRCh38
Duplication
No (not tested)
krumm_15_ASD_discovery_controls-control11106.s1
N/A
Male
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
31577862
31697117
119256
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_controls-control12030.s1
N/A
Female
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
30628559
30632439
3881
GRCh38
Deletion
Yes
krumm_15_ASD_discovery_controls-control13578.s1
N/A
Female
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
33095233
33146364
51132
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_controls-control14046.s1
N/A
Male
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
33095233
33146364
51132
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_controls-control14123.s1
N/A
Female
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
33095233
33146364
51132
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_controls-control14452.s1
N/A
Male
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
33095233
33146364
51132
GRCh38
Duplication
Yes
nord_11_ASD_discovery_controls-04C26873
Control
33289324
33304366
15043
Unknown
Deletion
poultney_13_ASD_discovery_controls-control04C38489A
N/A
F
Control
NIMH Control (NIMH ID 63165)
33605193
34153275
548083
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11379.s1
8.3
F
Control (matched sibling)
NA
NA
32510500
32512075
1576
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11445.s1
9.5
F
Control (matched sibling)
NA
NA
34848398
34871731
23334
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11445.s1
9.5
F
Control (matched sibling)
NA
NA
32751955
32786560
34606
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11455.s1
8.9
F
Control (matched sibling)
NA
NA
32412003
32418209
6207
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11476.s1
10.8
F
Control (matched sibling)
NA
NA
32169747
32383787
214041
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11505.s1
9.9
F
Control (matched sibling)
NA
NA
34859623
34879262
19640
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12184.s1
10.4
F
Control (matched sibling)
NA
NA
34859623
34871731
12109
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12189.s1
6.7
F
Control (matched sibling)
NA
NA
34859623
34871731
12109
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-13128.s1
8.8
M
Control (matched sibling)
NA
NA
34299735
34409047
109313
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-13128.s1
8.8
M
Control (matched sibling)
NA
NA
34411268
34441980
30713
GRCh38
Deletion
No
Cases
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
bitar_19_ASD_discovery_cases-case114
qPCR
Maternal
PDE1C
digregorio_17_DD/ID_discovery_cases-DECIPHER_300210
Paternal
NANOGP4,CPVL,CHN2
engchuan_15_ASD_discovery_cases-case1116_4
Unknown
RP9,BBS9
engchuan_15_ASD_discovery_cases-case1240_3
Unknown
RP9,BBS9
engchuan_15_ASD_discovery_cases-case13154_1713
Unknown
RP9,BBS9
engchuan_15_ASD_discovery_cases-case14214_3450
Unknown
RP9,BBS9
engchuan_15_ASD_discovery_cases-case3313_3
Unknown
RP9,BBS9
engchuan_15_ASD_discovery_cases-case5216_3
Unknown
RP9,BBS9
engchuan_15_ASD_discovery_cases-case6142_3
Unknown
RP9,BBS9
gai_11_ASD_discovery_cases-AU1197301
Inherited
PDE1C
gai_11_ASD_discovery_cases-AU1197302
Inherited
PDE1C
gazzellone_14_ASD_discovery_cases-case505-3
Unknown
Unknown
Unknown
PPP1R17,ITPRID1,PDE1C
glessner_09_ASD_discovery_cases-AU15404
Unknown
Unknown
NA
MIR550A2,MIR550B2,LINC00997,ZNRF2P1,DPY19L1P1
glessner_09_ASD_discovery_cases-AU33404
Unknown
Unknown
NA
MIR550A2,MIR550B2,LINC00997,ZNRF2P1,DPY19L1P1
glessner_09_ASD_discovery_cases-AU41703
qPCR
Unknown
Unknown
NA
MIR550A2,MIR550B2,LINC00997,ZNRF2P1,DPY19L1P1
glessner_09_ASD_discovery_cases-AU69803
Unknown
Unknown
NA
MIR550A2,MIR550B2,LINC00997,ZNRF2P1,DPY19L1P1
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002350
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Maternal
Unknown
Unknown
BBS9
krumm_13_ASD_discovery_cases-case12473.p1
Paternal
Simplex
Segregated
BMPER
krumm_13_ASD_discovery_cases-case13412.p1
Paternal
Simplex
Segregated
RP9,NT5C3A,BBS9
krumm_15_ASD_discovery_cases-case11043.p1
Illumina 1M
Maternal
Simplex
Segregated
RP9,BBS9
krumm_15_ASD_discovery_cases-case11106.p1
Illumina 1M
Maternal
Simplex
Not segregated (CNV in unaffected sibling)
PPP1R17,ITPRID1
krumm_15_ASD_discovery_cases-case11346.p1
Illumina 1M
Maternal
Simplex
Segregated
RP9,BBS9
krumm_15_ASD_discovery_cases-case11396.p1
Illumina 1M
Paternal
Simplex
Segregated
RP9,BBS9
krumm_15_ASD_discovery_cases-case12121.p1
Illumina 1MDuo
Paternal
Simplex
Segregated
RP9,BBS9
krumm_15_ASD_discovery_cases-case12667.p1
Illumina 1MDuo
Paternal
Simplex
Segregated
RP9,BBS9
krumm_15_ASD_discovery_cases-case13412.p1
1M-Duov3
Paternal
Simplex
Segregated
RP9,BBS9
krumm_15_ASD_discovery_cases-case13531.p1
1M-Duov3
Maternal
Simplex
Segregated
RP9,BBS9
krumm_15_ASD_discovery_cases-case13578.p1
1M-Duov3
Maternal
Simplex
Not segregated (CNV in unaffected sibling)
RP9,BBS9
krumm_15_ASD_discovery_cases-case14046.p1
Omni2.5-4v1
Maternal
Simplex
Not segregated (CNV in unaffected sibling)
RP9,BBS9
krumm_15_ASD_discovery_cases-case14237.p1
Omni2.5-4v1
Paternal
Simplex
Segregated
NANOGP4,CPVL,CHN2
maini_18_ASD/DD/ID_discovery_cases-case_unknown186
Unknown
Unknown
Unknown
NANOGP4,CPVL,CHN2
nord_11_ASD_discovery_cases-209-1
Maternal
0 genes
nord_11_ASD_discovery_cases-242-1
Maternal
DPY19L1,DPY19L2P1
o'roak_12_ASD_discovery_cases-case11346.p1
aCGH, Sanger sequencing
Maternal
Simplex (quad)
Unknown
RP9,BBS9
pinto_10_ASD_discovery_cases-case1116_4
Illumina550;Affy5.0
paternal
NA
NA
RP9,BBS9
pinto_10_ASD_discovery_cases-case1240_3
Illumina550;Affy5.0
maternal
NA
NA
RP9,BBS9
pinto_10_ASD_discovery_cases-case5216_3
Agilent1M
Both parents
NA
NA
RP9,BBS9
poultney_13_ASD_discovery_cases-case01HI1926A
Unknown
Unknown (likely multiplex/AGRE)
Unknown
RP9,BBS9
poultney_13_ASD_discovery_cases-case01HI2322A
Unknown
Unknown (likely multiplex/AGRE)
Unknown
RP9,BBS9
poultney_13_ASD_discovery_cases-case05HI3668A
Unknown
Unknown (likely multiplex/AGRE)
Unknown
RP9,BBS9
prasad_12_ASD_discovery_cases-case78621
Unknown
Unknown
Unknown
BMPER
sajan_13_ACC/CBLH/PMG_discovery_cases-case1006-0
Not tested by qPCR
Unknown
Unknown
Unknown
PDE1C
sajan_13_ACC/CBLH/PMG_discovery_cases-caseLR08-289
Not tested by qPCR
Unknown
Unknown
Unknown
RP9,BBS9
sanders_11_ASD_discovery_cases-11043.p1
Maternal
Simplex (quad-proband matched)
Segregated
RP9,BBS9
sanders_11_ASD_discovery_cases-11346.p1
Maternal
Simplex (quad-proband matched)
Not segregated
RP9,BBS9
sanders_11_ASD_discovery_cases-11396.p1
Paternal
Simplex (quad-proband matched)
Segregated
RP9,BBS9
sanders_11_ASD_discovery_cases-11455.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12117.p1
Paternal
Simplex (quad-proband matched)
Segregated
NPSR1,NPSR1-AS1
sanders_11_ASD_discovery_cases-12121.p1
Paternal
Simplex (quad-proband matched)
Not segregated
RP9,BBS9
sanders_11_ASD_discovery_cases-12160.p1
Paternal
Simplex (quad-proband unmatched)
Unknown
BBS9
sanders_11_ASD_discovery_cases-12184.p1
Paternal
Simplex (quad-proband matched)
Not segregated
NPSR1,NPSR1-AS1
sanders_11_ASD_discovery_cases-12221.p1
Maternal
Simplex (quad-proband unmatched)
Unknown
NPSR1,NPSR1-AS1
sanders_11_ASD_discovery_cases-12667.p1
Paternal
Simplex (quad-proband matched)
Not segregated
RP9,BBS9
tropeano_16_ASD_discovery_cases-MAAS19
MLPA or aCGH
Unknown
Unknown
Unknown
SLC25A5P5,MIR550A2,MIR550B2,LINC00997,RNU6-388P,RPS29P14,RN7SL505P,RNA5SP229,RNU6-438P,LSM5,ZNRF2P1,DPY19L1P2,KBTBD2,RP9P,FKBP9,RP9,PDE1C,DPY19L1P1,NT5C3A,BMPER,AVL9,NPSR1-AS1,BBS9
wenger_16_ASD_discovery_cases-case33
Unknown
PDE1C
yin_16_ASD_discovery_cases-case260
Unknown
Unknown
Unknown
AQP1,GHRHR,INMT-MINDY4,MINDY4
Controls
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
engchuan_15_ASD_discovery_controls-controlB228946_1007854752
Unknown
PDE1C
engchuan_15_ASD_discovery_controls-controlB230179_1007841236
Unknown
BBS9
engchuan_15_ASD_discovery_controls-controlB291419_1007842029
Unknown
RP9,BBS9
engchuan_15_ASD_discovery_controls-controlB295710_1007841796
Unknown
RP9,BBS9
engchuan_15_ASD_discovery_controls-controlB618029_1007874552
Unknown
RP9,BBS9
engchuan_15_ASD_discovery_controls-controlB752269_1007854332
Unknown
MIR548N,DPY19L1,DPY19L2P1
engchuan_15_ASD_discovery_controls-controlB771183_1007874859
Unknown
PDE1C
engchuan_15_ASD_discovery_controls-controlB806145_1007873615
Unknown
RP9,BBS9
engchuan_15_ASD_discovery_controls-controlB828621_0057060997
Unknown
RP9,BBS9
engchuan_15_ASD_discovery_controls-controlHABC_900213_900213
Unknown
RP9,BBS9
engchuan_15_ASD_discovery_controls-controlHABC_900812_900812
Unknown
RP9,BBS9
engchuan_15_ASD_discovery_controls-controlHABC_901191_901191
Unknown
RP9,BBS9
engchuan_15_ASD_discovery_controls-controlHABC_902528_902528
Unknown
RP9,BBS9
engchuan_15_ASD_discovery_controls-controlHABC_903002_903002
Unknown
RP9,BBS9
girirajan_13b_ASD_discovery_controls-11210113056
Unknown
PDE1C
girirajan_13b_ASD_discovery_controls-34108110389
Unknown
BBS9
krumm_13_ASD_discovery_controls-control13116.s1
Maternal
Simplex
RP9,BBS9
krumm_15_ASD_discovery_controls-control11106.s1
Illumina 1M
Maternal
PPP1R17,ITPRID1
krumm_15_ASD_discovery_controls-control12030.s1
Illumina 1MDuo
Paternal
GARS
krumm_15_ASD_discovery_controls-control13578.s1
1M-Duov3
Maternal
RP9,BBS9
krumm_15_ASD_discovery_controls-control14046.s1
Omni2.5-4v1
Maternal
RP9,BBS9
krumm_15_ASD_discovery_controls-control14123.s1
Omni2.5-4v1
Maternal
RP9,BBS9
krumm_15_ASD_discovery_controls-control14452.s1
Omni2.5-4v1
Paternal
RP9,BBS9
nord_11_ASD_discovery_controls-04C26873
BBS9
poultney_13_ASD_discovery_controls-control04C38489A
Unknown
BMPER,BBS9
sanders_11_ASD_discovery_controls-11379.s1
Maternal
Simplex (quad)
NA
AVL9
sanders_11_ASD_discovery_controls-11445.s1
Maternal
Simplex (quad)
NA
NPSR1,NPSR1-AS1
sanders_11_ASD_discovery_controls-11445.s1
Maternal
Simplex (quad)
NA
LINC00997,ZNRF2P1,DPY19L1P1
sanders_11_ASD_discovery_controls-11455.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11476.s1
Maternal
Simplex (quad)
NA
PDE1C
sanders_11_ASD_discovery_controls-11505.s1
Maternal
Simplex (quad)
NA
NPSR1,NPSR1-AS1
sanders_11_ASD_discovery_controls-12184.s1
Paternal
Simplex (quad)
NA
NPSR1,NPSR1-AS1
sanders_11_ASD_discovery_controls-12189.s1
Paternal
Simplex (quad)
NA
NPSR1,NPSR1-AS1
sanders_11_ASD_discovery_controls-13128.s1
Maternal
Simplex (quad)
NA
NPSR1-AS1
sanders_11_ASD_discovery_controls-13128.s1
Maternal
Simplex (quad)
NA
NPSR1-AS1
No Animal Model Data Available