1p34.3CNV Type: Deletion-Duplication
Largest CNV size: 345616 bp
Statistics Box:
Number of Reports: 11
Number of Reports: 11
Summary Information
Summary statement in development
Additional Locus Information
References
Major Reports
Title
Author, Year
Report Class
CNV Type
An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabili...
Deletion
Confirmation of chromosomal microarray as a first-tier clinical diagnostic test for individuals with developmental delay, intellectual disability, ...
Deletion
The clinical significance of small copy number variants in neurodevelopmental disorders.
Duplication
Minor Reports
Title
Author, Year
Report Class
CNV Type
Multiple recurrent de novo CNVs, including duplications of the 7q11.23 Williams syndrome region, are strongly associated with autism.
Deletion-Duplication
Rare de novo and transmitted copy-number variation in autistic spectrum disorders.
Duplication
A discovery resource of rare copy number variations in individuals with autism spectrum disorder.
Deletion-Duplication
Performance of case-control rare copy number variation annotation in classification of autism.
Deletion
Genome-wide analysis of copy number variations identifies PARK2 as a candidate gene for autism spectrum disorder.
Duplication
Paternally inherited cis-regulatory structural variants are associated with autism.
Deletion
Clinical Targeted Panel Sequencing Analysis in Clinical Evaluation of Children with Autism Spectrum Disorder in China
Duplication
Cases
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
asadollahi_14_NDD_discovery_cases
Patients screened for rare non-polymorphic exonic CNVs sizing 1-500 kb
714
Patients with undiagnosed neurodevelopmental disorders (NDD) with or without further congenital anomalies
N/A
N/A
205000
0
1
1
battaglia_13_DD/ID/ASD_discovery_cases
Patients affected by DD/ID/ASD/dysmorphic features of unknown origin observed at the Stella Maris Institute (Pisa, Italy) between May 2004 & December 2011
349
34 cases with borderline intellectual disability, 237 cases with mixed intellectual disability, 78 cases with intellectual disability and ASD (cases referred with a provisional diagnosis of ASD evaluated with ADI-R and ADOS-G)
Range, 5 mos.-19 yrs.
63.9% Male
1200000
1
0
1
brandler_18_ASD_replication_cases
Affected individuals from MSSNG cohort (1395 cases from 1187 families) and the Simons Simplex 2 (SSC2) cohort (584 cases from simplex quad families)
1979
Cases diagnosed with ASD
N/A
N/A
10645
2
0
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
56570
2
0
2
hu_22_ASD_discovery_cases
Patients receiving a diagnosis of ASD in the Department of Child Health Care, Children's Hospital of Fudan University, that were included consecutively from January 2019 to December 2020.
573
Cases met criteria for autism spectrum disorder (ASD) using DSM-5 criteria.
Range, 16 mos.-12.8 yrs. (mean, 3.6 yrs)
80.1% Male
1155320
0
1
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
260629
1
0
1
krumm_15_ASD_discovery_cases
Probands from the Simons Simplex Collection
2377
Diagnosis of ASD
N/A
N/A
44092
0
1
1
levy_11_ASD_discovery_cases
Autistic probands from 887 families from the Simons Simplex Collection (SSC)
858
ASD
87.06% Male
44675
0
1
1
prasad_12_ASD_discovery_cases
Unrelated ASD cases recruited from three Canadian sites (Hospital for Sick Children, McMaster University, and Memorial University of Newfoundland); the majority of cases had been previously genotyped with results published in Marshall et al., 2008 and Pinto et al., 2010. 20 cases from initial cohort of 696 were excluded from further analysis (due to CNVs > 5 Mb).
676
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS
NA
82.84% Male
48316
3
1
4
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
345616
10
3
13
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
52852
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
49667
3
1
4
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_15_ASD_discovery_controls
Unaffected siblings from quad families from the Simons Simplex Collection
1786
Control
N/A
N/A
40037
0
1
1
levy_11_ASD_discovery_controls
Unaffected siblings of autistic probands from 887 families from the Simons Simplex Collection (SSC)
863
Control
47.97% Male
0
0
0
0
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)
1476
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)
48316
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.
341888
3
3
6
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
52852
0
0
0
Cases
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
asadollahi_14_NDD_discovery_cases
Predominantly European
Array SNP
Affymetrix 6.0, Affymetrix Cytogenetics 2.7, Affymetrix CytoScan HD
HMM
Affymetrix ChAS v.1.0.1
MLPA
battaglia_13_DD/ID/ASD_discovery_cases
Italy
aCGH, array SNP
BACs aCGH, Agilent 44K, Agilent 180K, Affymetrix 6.0
FISH, qPCR
brandler_18_ASD_replication_cases
N/A
WGS
Illumina HiSeq X10
ForestSV, Lumpy, Manta, Mobster, SV2
None
engchuan_15_ASD_discovery_cases
Caucasian
Solid phase hybridization
Illumina 1M
None
hu_22_ASD_discovery_cases
China
Targeted gene panel sequencing
Illumina HiSeq X10
CANOES, HMZDelFinder
PICNIC, AnnotSV
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_15_ASD_discovery_cases
N/A
WES
CoNIFER, XHMM
Solid phase hybridization (Illumina 1M, 1 M Duo, or Omni 2.5)
levy_11_ASD_discovery_cases
aCGH
NimbleGen HD2
HMM
prasad_12_ASD_discovery_cases
Canada
aCGH
Agilent 1M
ADM-2, DNAcopy (R Bioconductor)
DNA Analytics v4.0.85 (Agilent), DNAcopy
None
sanders_11_ASD_discovery_cases
White non-Hispanic, 74.5%; mixed, 9.3%, Asian, 4.3%, White Hispanic, 4.0%, African-American, 3.8%; other, 4.2&
Solid phase hybridization
Illumina 1M v1, Illumina 1M v3
PennCNV, QuantiSNP, GNOSIS
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_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
poultney_13_ASD_discovery_controls
European
WES
Agilent SureSelect Human All Exon v.2
XHMM
qPCR, Sanger sequencing
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
asadollahi_14_NDD_discovery_cases-case63153
2 yrs.
F
Developmental delay and epilepsy
Developmental delay, hypotonia, epilepsy, strabismus
38736339
38941284
204946
GRCh38
Duplication
Yes
battaglia_13_DD/ID/ASD_discovery_cases-case74
10 yrs.
M
Developmental delay/intellectual disability
Autism: no. Epilepsy: no. Dysmorphic features: yes.
Moderate DD/ID
34985865
36181906
1196042
GRCh38
Deletion
Yes
brandler_18_ASD_replication_cases-case2-1134-003
N/A
F
ASD
Case from MSSNG cohort
39202032
39212676
10645
GRCh38
Deletion
No
brandler_18_ASD_replication_cases-case5-0019-003
N/A
M
ASD
Case from MSSNG cohort
35970514
35976218
5705
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case2284_1
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
37169903
37218318
48416
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case5312_3
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
37165913
37222483
56571
GRCh38
Deletion
No
hu_22_ASD_discovery_cases-case22
NA
M
ASD
Case met criteria for ASD using DSM-5.
36508937
37664256
1155320
GRCh38
Duplication
No
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004737
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
37443860
37704418
260559
GRCh38
Deletion
Yes
krumm_15_ASD_discovery_cases-case11404.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
37940687
37984779
44093
GRCh38
Duplication
Yes
levy_11_ASD_discovery_cases-11404.p1
NA
M
ASD
NA
NA
37934338
37979012
44675
GRCh38
Duplication
No
prasad_12_ASD_discovery_cases-case117480L
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
38621391
38660128
38738
Unknown
Deletion
No
prasad_12_ASD_discovery_cases-case125700
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
34726746
34758217
31472
Unknown
Duplication
No
prasad_12_ASD_discovery_cases-case88794
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
37407730
37456045
48316
Unknown
Deletion
No
prasad_12_ASD_discovery_cases-case93773L
NA
F
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
39440954
39448776
7823
Unknown
Deletion
No
sanders_11_ASD_discovery_cases-11345.p1
6.1
M
Autism
NA
Full-scale IQ, 114; non-verbal IQ, 120; verbal IQ, 100
37169903
37222483
52581
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11393.p1
8.2
M
Autism
NA
Full-scale IQ, 28; non-verbal IQ, 37; verbal IQ, 17
35052945
35095026
42082
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11404.p1
7.3
M
Autism
NA
Full-scale IQ, 85; non-verbal IQ, 90; verbal IQ, 82
37934341
37985240
50900
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11441.p1
7.8
M
Autism
NA
Full-scale IQ, 125; non-verbal IQ, 119; verbal IQ, 126
38663623
38671457
7835
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11654.p1
8
F
Autism
NA
Full-scale IQ, 40; non-verbal IQ, 41; verbal IQ, 47
36964762
36972779
8018
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11693.p1
5.3
M
Autism
NA
Full-scale IQ, 78; non-verbal IQ, 76; verbal IQ, 88
37169903
37218318
48416
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12008.p1
7.3
M
Autism
NA
Full-scale IQ, 115; non-verbal IQ, 106; verbal IQ, 128
36894521
36925819
31299
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12341.p1
13.8
M
Autism
NA
Full-scale IQ, 109; non-verbal IQ, 117; verbal IQ, 114
38296709
38642325
345617
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12424.p1
4.2
M
ASD
NA
Full-scale IQ, 69; non-verbal IQ, 77; verbal IQ, 65
35561953
35581401
19449
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12472.p1
5.6
F
Autism
NA
Full-scale IQ, 106; non-verbal IQ, 101; verbal IQ, 112
34391523
34401767
10245
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12484.p1
9.4
M
Autism
NA
Full-scale IQ, 98; non-verbal IQ, 107; verbal IQ, 83
36965741
36972779
7039
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
34192630
34197579
4950
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-13166.p1
9.1
M
Autism
NA
Full-scale IQ, 46; non-verbal IQ, 47; verbal IQ, 45
34192630
34199618
6989
GRCh38
Deletion
No
yin_16_ASD_discovery_cases-case17
N/A
N/A
ASD
Cases diagnosed with autistic disorder according to DSM-IV and confirmed by using the Chinese version of ADI-R.
35956942
36009793
52852
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-control110036017937_
N/A
N/A
Control
No previous psychiatric history
37169903
37218318
48416
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlB747654_1007844423
N/A
N/A
Control
No previous psychiatric history
39026790
39076457
49668
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlHABC_900103_900103
N/A
N/A
Control
No previous psychiatric history
37169903
37218318
48416
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlHABC_902746_902746
N/A
N/A
Control
No previous psychiatric history
37169903
37218318
48416
GRCh38
Deletion
No
krumm_15_ASD_discovery_controls-control11404.s1
N/A
Male
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
37940687
37980724
40038
GRCh38
Duplication
Yes
poultney_13_ASD_discovery_controls-control05C39343A
N/A
F
Control
NIMH Control (NIMH ID 87777)
36460690
36462165
1476
GRCh38
Deletion
Yes
sanders_11_ASD_discovery_controls-11345.s1
8
M
Control (matched sibling)
NA
NA
37169903
37222483
52581
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11393.s1
9.1
M
Control (matched sibling)
NA
NA
35037506
35089136
51631
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11404.s1
4.7
M
Control (matched sibling)
NA
NA
37934341
37982053
47713
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11654.s1
6.3
F
Control (matched sibling)
NA
NA
36964665
36972779
8115
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12033.s1
12.2
M
Control (matched sibling)
NA
NA
35561953
35581401
19449
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12341.s1
11.3
F
Control (matched sibling)
NA
NA
38296709
38638597
341889
GRCh38
Duplication
No
Cases
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
asadollahi_14_NDD_discovery_cases-case63153
MLPA
Paternal
Unknown
Unknown
MYCBP,RNU6-605P,RRAGC,GJA9-MYCBP,GJA9,RHBDL2
battaglia_13_DD/ID/ASD_discovery_cases-case74
FISH or qPCR
De novo
Unknown
Unknown
RPL12P45,EFCAB14P1,RN7SL503P,RPL5P4,ZMYM4-AS1,NCDN,TEKT2,ADPRHL2,ZMYM1,SFPQ,TFAP2E,PSMB2,C1orf216,CLSPN,AGO4,COL8A2,TRAPPC3,ZMYM6,ZMYM4,KIAA0319L,AGO1,AGO3,MAP7D1
brandler_18_ASD_replication_cases-case2-1134-003
No validation step reported
Maternal
MACF1
brandler_18_ASD_replication_cases-case5-0019-003
No validation step reported
Paternal
AGO3
engchuan_15_ASD_discovery_cases-case2284_1
Unknown
RNU6-636P
engchuan_15_ASD_discovery_cases-case5312_3
Unknown
RNU6-636P
hu_22_ASD_discovery_cases-case22
Unknown
GNL2,SNIP1,MEAF6,ZC3H12A,FTH1P1,GRIK3,RSPO1,RPS29P6,MIR4255,FTLP18,RNA5SP43,MIR5581,MIR6732,RNU6-636P,DNALI1
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004737
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Paternal
Unknown
Unknown
ZC3H12A,MIR6732,MIR5581,FTH1P1,DNALI1,LINC01137,MEAF6,SNIP1,GNL2,C1orf109,CDCA8,RSPO1
krumm_15_ASD_discovery_cases-case11404.p1
Illumina 1M
Paternal
Simplex
Not segregated (CNV in unaffected sibling)
SF3A3,INPP5B
levy_11_ASD_discovery_cases-11404.p1
Paternal
Simplex
Segregated
SF3A3,INPP5B
prasad_12_ASD_discovery_cases-case117480L
Unknown
Unknown
Unknown
0 genes
prasad_12_ASD_discovery_cases-case125700
Unknown
Unknown
Unknown
0 genes
prasad_12_ASD_discovery_cases-case88794
Unknown
Unknown
Unknown
0 genes
prasad_12_ASD_discovery_cases-case93773L
Unknown
Unknown
Unknown
MACF1
sanders_11_ASD_discovery_cases-11345.p1
Maternal
Simplex (quad-proband matched)
Not segregated
RNU6-636P
sanders_11_ASD_discovery_cases-11393.p1
Maternal
Simplex (quad-proband matched)
Not segregated
RPL12P45,ZMYM1
sanders_11_ASD_discovery_cases-11404.p1
Paternal
Simplex (quad-proband matched)
Not segregated
SF3A3,INPP5B
sanders_11_ASD_discovery_cases-11441.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11654.p1
Both parents
Simplex (quad-proband matched)
Not segregated
GRIK3
sanders_11_ASD_discovery_cases-11693.p1
Paternal
Simplex (trio)
NA
RNU6-636P
sanders_11_ASD_discovery_cases-12008.p1
Unknown
Simplex (trio)
NA
GRIK3
sanders_11_ASD_discovery_cases-12341.p1
Paternal
Simplex (quad-proband matched)
Not segregated
RNU6-753P,LINC01685
sanders_11_ASD_discovery_cases-12424.p1
Unknown
Simplex (quad-proband matched)
Not segregated
NCDN,TFAP2E
sanders_11_ASD_discovery_cases-12472.p1
Paternal
Simplex (trio)
NA
sanders_11_ASD_discovery_cases-12484.p1
Maternal
Simplex (quad-proband unmatched)
Unknown
GRIK3
sanders_11_ASD_discovery_cases-12701.p1
Unknown
Simplex (quad-proband matched)
Not segregated
C1orf94
sanders_11_ASD_discovery_cases-13166.p1
Paternal
Simplex (quad-proband matched)
Segregated
C1orf94
yin_16_ASD_discovery_cases-case17
Unknown
Unknown
Unknown
AGO3
Controls
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
engchuan_15_ASD_discovery_controls-control110036017937_
Unknown
RNU6-636P
engchuan_15_ASD_discovery_controls-controlB747654_1007844423
Unknown
NDUFS5
engchuan_15_ASD_discovery_controls-controlHABC_900103_900103
Unknown
RNU6-636P
engchuan_15_ASD_discovery_controls-controlHABC_902746_902746
Unknown
RNU6-636P
krumm_15_ASD_discovery_controls-control11404.s1
Illumina 1M
Paternal
SF3A3,INPP5B
poultney_13_ASD_discovery_controls-control05C39343A
qPCR, Sanger sequencing
Unknown
MRPS15
sanders_11_ASD_discovery_controls-11345.s1
Maternal
Simplex (quad)
NA
RNU6-636P
sanders_11_ASD_discovery_controls-11393.s1
Maternal
Simplex (quad)
NA
RPL12P45,ZMYM1
sanders_11_ASD_discovery_controls-11404.s1
Paternal
Simplex (quad)
NA
SF3A3,INPP5B
sanders_11_ASD_discovery_controls-11654.s1
Both parents
Simplex (quad)
NA
GRIK3
sanders_11_ASD_discovery_controls-12033.s1
Unknown
Simplex (quad)
NA
NCDN,TFAP2E
sanders_11_ASD_discovery_controls-12341.s1
Paternal
Simplex (quad)
NA
RNU6-753P,LINC01685
No Animal Model Data Available