14q32.31CNV Type: Deletion-Duplication
Largest CNV size: 47133 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...
Duplication
Clinical application of 2.7M Cytogenetics array for CNV detection in subjects with idiopathic autism and/or intellectual disability.
Deletion
Both rare and de novo copy number variants are prevalent in agenesis of the corpus callosum but not in cerebellar hypoplasia or polymicrogyria.
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
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.
Duplication
Identification of small exonic CNV from whole-exome sequence data and application to autism spectrum disorder.
Deletion-Duplication
Performance of case-control rare copy number variation annotation in classification of autism.
Duplication
Genome-wide analysis of copy number variations identifies PARK2 as a candidate gene for autism spectrum disorder.
Duplication
Rare Inherited and De Novo CNVs Reveal Complex Contributions to ASD Risk in Multiplex Families.
Deletion
Paternally inherited cis-regulatory structural variants are associated with autism.
Deletion
Cases
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
brandler_18_ASD_discovery_cases
Affected individuals from the Relating Genes with Adolescent and Child Health (REACH) cohort (362 cases from 311 families; 54 multiplex, 243 simplex) and the Simons Simplex 1 (SSC1) cohort (518 cases from simplex quad families)
880
REACH cohort: 285 cases diagnosed with ASD, 43 cases diagnosed with PDD-NOS, 10 cases diagnosed with ADHD, and 24 cases presenting with speech delay, epilepsy, anxiety, or other related developmental disorders that were classified as cases for bioinformatics analyses; Simons Simplex Collection 1 (SSC1) cohort: all 518 cases were diagnosed with ASD
N/A
N/A
1691
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
5785
1
0
1
engchuan_15_ASD_discovery_cases
Samples from the Autism Genome Project (AGP)
1892
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
N/A
85.78% Male
296525
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
27557
0
1
1
leppa_16_ASD_discovery_cases
Children affected with ASD from 1,464 families from the Autism Genetic Resource Exchange (AGRE)
1764
Diagnosis according to ADOS and ADI-R
N/A
N/A
1058000
1
0
1
levy_11_ASD_discovery_cases
Autistic probands from 887 families from the Simons Simplex Collection (SSC)
858
ASD
87.06% Male
47133
0
1
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)
58465
2
3
5
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
11283
0
1
1
qiao_12_ASD/ID_discovery_cases
Cohort recruited through Autism Spectrum Interdisciplinary Research (ASPIRE) program of the University of Britisn Columbia Provincial Medical Genetics Program in Vancouver, Canada (ASD-CARC)
52
ASD and/or ID (intellectual disability)
NA
NA
362000
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
228010
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
4266
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
36829
0
1
1
Controls
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
brandler_18_ASD_discovery_controls
Unaffected individuals from the Relating Genes with Adolescent and Child Health (REACH) cohort (112 individuals from 311 families) and the Simons Simplex 1 (SSC1) cohort (518 controls from simplex quad families)
630
Control
N/A
N/A
8338
1
0
1
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
131299
3
2
5
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
4333
1
0
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
47133
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)
54005
1
1
2
prasad_12_ASD_discovery_controls
PDx controls [1000 DNA samples from reportedly healthy donors (50.2% male) from BioServe (Beltsville, MD)] and 4139 in-house controls previously reported in Krawcak et al. 2006, Stewart et al. 2009, and Bierut et al. 2010. CNVs identified in controls were used to define rare ASD-specific CNVs.
5139
Control
NA
NA (PDx controls 50.2% male)
11283
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.
0
0
0
0
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
36829
0
0
0
Cases
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
brandler_18_ASD_discovery_cases
N/A
WGS
Illumina HiSeq X10 or HiSeq 2500
ForestSV, Lumpy, Manta, Mobster, SV2
None
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
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
leppa_16_ASD_discovery_cases
N/A
Solid phase hybridization
Illumina 550v1 and 550v3, Omni-1.0-B and -H, Omni 2.5
PennCNV, QuantiSNP, GNOSIS
GenomeStudio, CNVision
None
levy_11_ASD_discovery_cases
aCGH
NimbleGen HD2
HMM
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
qiao_12_ASD/ID_discovery_cases
Canadian
Array SNP
Affymetrix 2.7M
Affymetrix ChAS v.1.1
QMPSF
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
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
brandler_18_ASD_discovery_controls
N/A
WGS
Illumina HiSeq X10 or HiSeq 2500
ForestSV, Lumpy, Manta, Mobster, SV2
PCR, array SNP
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
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-caseMT_188.3
N/A
F
ASD
Case from REACH cohort
101823190
101824881
1692
GRCh38
Deletion
No
brandler_18_ASD_replication_cases-caseAU1952305
N/A
M
ASD
Case from MSSNG cohort
101775698
101781482
5785
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case4524_1
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
102479863
102776388
296526
GRCh38
Duplication
No
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004094
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
101534151
101561708
27558
GRCh38
Duplication
Yes
leppa_16_ASD_discovery_cases-AU3125301
N/A
N/A
ASD
101905709
102963488
1057780
GRCh38
Deletion
No
levy_11_ASD_discovery_cases-11752.p1
NA
F
ASD
NA
NA
102026184
102073316
47133
GRCh38
Duplication
No
poultney_13_ASD_discovery_cases-case00HI1529A
N/A
M
ASD
ASD case from AGRE (AGRE ID AU066505; NDAR ID NDAR_INVUA131LWQ)
100953349
100993309
39961
GRCh38
Deletion
No
poultney_13_ASD_discovery_cases-case01HI2157A
N/A
M
ASD
ASD case from AGRE (AGRE ID AU077904; NDAR ID NDAR_INVZM089ZKQ)
100981004
101022132
41129
GRCh38
Duplication
No
poultney_13_ASD_discovery_cases-case05HI3710A
N/A
M
ASD
ASD case from AGRE (AGRE ID AU1419302; NDAR ID NDAR_INVVT259HAE)
100951856
100993309
41454
GRCh38
Deletion
No
poultney_13_ASD_discovery_cases-case99HI0671A
N/A
M
ASD
ASD case from AGRE (AGRE ID AU033403; NDAR ID NDAR_INVFP134WLL)
102081710
102140174
58465
GRCh38
Duplication
No
poultney_13_ASD_discovery_cases-case99HI0922A
N/A
M
ASD
ASD case from AGRE (AGRE ID AU047903; NDAR ID NDAR_INVZX727FUX)
100953349
100990159
36811
GRCh38
Duplication
No
prasad_12_ASD_discovery_cases-case90193
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
101286273
101297555
11283
Unknown
Duplication
No
qiao_12_ASD_discovery_cases-case09-168A
9 yrs. 4 mos.
M
ASD
Mild dysmoprhic features including bilateral epicanthic folds, mid-face hyperplasia with a short nose, wide and flat nasal bridge, anteverted nares, maxillary hyperplasia, malar hyperplasia with prognathia, deep set eyes, prominent supra-orbital ridges, synophyris, high and narrow forehead, mild conductive hearing loss, low anterior and posterior hairline, webbed neck, prominent fingertip pads. Normal growth parameters. Normal opthalmologic exam and conductive hearing deficit bilaterally on audiology assessment.
Normal cognition, learning disability.
102112006
102474509
362000
Unknown
Deletion
Yes
sajan_13_ACC/CBLH/PMG_discovery_cases-case1406-0
N/A
N/A
ACC-CBLH-PMG
Diagnosis of agenesis of the corpus callosum (ACC), cerebellar hypoplasia (CBLH), and polymicrogyria (PMG). ASD: yes. Seizures: yes.
Developmental delay: yes. Intellectual disability: unknown.
102427419
102647215
219797
GRCh38
Duplication
Yes
sajan_13_ACC/CBLH/PMG_discovery_cases-caseLR05-365
N/A
N/A
ACC-CBLH-PMG
Diagnosis of agenesis of the corpus callosum (ACC), cerebellar hypoplasia (CBLH), and polymicrogyria (PMG). ASD: N/A. Seizures: yes (onset at 28 months).
Developmental delay: yes. Intellectual disability: yes.
102434431
102662440
228010
GRCh38
Duplication
Yes
sanders_11_ASD_discovery_cases-11630.p1
10.6
M
Autism
NA
Full-scale IQ, 104; non-verbal IQ, 105; verbal IQ, 106
102099124
102103390
4267
GRCh38
Deletion
No
yin_16_ASD_discovery_cases-case474
N/A
N/A
ASD
Cases diagnosed with autistic disorder according to DSM-IV and confirmed by using the Chinese version of ADI-R.
101022824
101059652
36829
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
brandler_18_ASD_discovery_controls-controlSSC07668
N/A
F
Control
Control from SSC_phase1 cohort
102399762
102408100
8339
GRCh38
Deletion
Yes
engchuan_15_ASD_discovery_controls-controlB777599_1007853701
N/A
N/A
Control
No previous psychiatric history
102028807
102071971
43165
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlB890422_1007874655
N/A
N/A
Control
No previous psychiatric history
102249319
102293848
44530
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlHABC_900069_900069
N/A
N/A
Control
No previous psychiatric history
102249319
102293848
44530
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlHABC_901059_901059
N/A
N/A
Control
No previous psychiatric history
102348705
102480004
131300
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlHABC_901137_901137
N/A
N/A
Control
No previous psychiatric history
102535489
102642505
107017
GRCh38
Duplication
No
krumm_15_ASD_discovery_controls-control13319.s1
N/A
Male
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
102229456
102233789
4334
GRCh38
Deletion
Yes
levy_11_ASD_discovery_controls-11752.s1
NA
M
Control
NA
NA
102026184
102073316
47133
GRCh38
Duplication
No
poultney_13_ASD_discovery_controls-control04C33198A
N/A
F
Control
NIMH Control (NIMH ID 94152)
100972103
101026107
54005
GRCh38
Duplication
No
poultney_13_ASD_discovery_controls-control05C38932A
N/A
M
Control
NIMH Control (NIMH ID 51352)
100949833
100993309
43477
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-caseMT_188.3
Not available
Paternal
PPP2R5C
brandler_18_ASD_replication_cases-caseAU1952305
No validation step reported
Maternal
PPP2R5C
engchuan_15_ASD_discovery_cases-case4524_1
Unknown
RNU6-244P,ANKRD9,MIR4309,RN7SL546P,RPL23AP11,LINC02323,TECPR2,RCOR1
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004094
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
DIO3OS,MIR1247,DIO3
leppa_16_ASD_discovery_cases-AU3125301
De novo
Unknown
Possibly segregated
RN7SL472P,RNU6-244P,ANKRD9,MIR4309,RN7SL546P,RPL23AP11,RNU6-1316P,WDR20,ZNF839,CINP,LINC02323,AMN,PPP2R5C,DYNC1H1,HSP90AA1,MOK,TECPR2,RCOR1,TRAF3,CDC42BPB
levy_11_ASD_discovery_cases-11752.p1
Maternal
Simplex
Not segregated
DYNC1H1
poultney_13_ASD_discovery_cases-case00HI1529A
Unknown
Unknown (likely multiplex/AGRE)
Unknown
SNORD114-3,SNORD114-4,SNORD114-5,SNORD114-6,SNORD114-7,SNORD114-9,SNORD114-10,SNORD114-11,SNORD114-12,SNORD114-13,SNORD114-14,SNORD114-15,SNORD114-16,SNORD114-17,SNORD114-18,SNORD114-19,SNORD114-20,SNORD114-21,SNORD114-22,SNORD114-23,SNORD114-24,SNORD114-25,SNORD114-26,SNORD114-27,SNORD114-28,SNORD114-29,SNORD114-30,SNORD114-31,MEG8
poultney_13_ASD_discovery_cases-case01HI2157A
Unknown
Unknown (likely multiplex/AGRE)
Unknown
SNORD114-20,SNORD114-21,SNORD114-22,SNORD114-23,SNORD114-24,SNORD114-25,SNORD114-26,SNORD114-27,SNORD114-28,SNORD114-29,SNORD114-30,SNORD114-31,MIR379,MEG8
poultney_13_ASD_discovery_cases-case05HI3710A
Unknown
Unknown (likely multiplex/AGRE)
Unknown
SNORD114-2,SNORD114-3,SNORD114-4,SNORD114-5,SNORD114-6,SNORD114-7,SNORD114-9,SNORD114-10,SNORD114-11,SNORD114-12,SNORD114-13,SNORD114-14,SNORD114-15,SNORD114-16,SNORD114-17,SNORD114-18,SNORD114-19,SNORD114-20,SNORD114-21,SNORD114-22,SNORD114-23,SNORD114-24,SNORD114-25,SNORD114-26,SNORD114-27,SNORD114-28,SNORD114-29,SNORD114-30,SNORD114-31,MEG8
poultney_13_ASD_discovery_cases-case99HI0671A
Unknown
Unknown (likely multiplex/AGRE)
Unknown
WDR20,HSP90AA1
poultney_13_ASD_discovery_cases-case99HI0922A
Unknown
Unknown (likely multiplex/AGRE)
Unknown
SNORD114-3,SNORD114-4,SNORD114-5,SNORD114-6,SNORD114-7,SNORD114-9,SNORD114-10,SNORD114-11,SNORD114-12,SNORD114-13,SNORD114-14,SNORD114-15,SNORD114-16,SNORD114-17,SNORD114-18,SNORD114-19,SNORD114-20,SNORD114-21,SNORD114-22,SNORD114-23,SNORD114-24,SNORD114-25,SNORD114-26,SNORD114-27,SNORD114-28,SNORD114-29,MEG8
prasad_12_ASD_discovery_cases-case90193
Unknown
Unknown
Unknown
0 genes
qiao_12_ASD_discovery_cases-case09-168A
QMPSF
De novo
Simplex
Likely segregated
RCOR1,TRAF3,AMN,CDC42BPB
sajan_13_ACC/CBLH/PMG_discovery_cases-case1406-0
qPCR
Unknown
Unknown
Unknown
RNU6-244P,ANKRD9,MIR4309,RN7SL546P,LINC02323,TECPR2,RCOR1
sajan_13_ACC/CBLH/PMG_discovery_cases-caseLR05-365
qPCR
Maternal
Unknown
Unknown
RNU6-244P,ANKRD9,MIR4309,RN7SL546P,RPL23AP11,LINC02323,TECPR2,RCOR1
sanders_11_ASD_discovery_cases-11630.p1
Maternal
Simplex (quad-proband matched)
Segregated
HSP90AA1
yin_16_ASD_discovery_cases-case474
Unknown
Unknown
Unknown
MIR411,MIR299,MIR380,MIR1197,MIR323A,MIR758,MIR329-1,MIR329-2,MIR494,MIR1193,MIR543,MIR495,MIR376C,MIR654,MIR376B,MIR376A1,MIR300,MIR1185-1,MIR1185-2,MIR381HG,MIR381,MIR487B,MIR539,MIR889,MIR544A,MIR655,MIR487A,MIR382,MIR134,MIR668,MIR485,MIR323B,MIR376A2,MEG8
Controls
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
brandler_18_ASD_discovery_controls-controlSSC07668
PCR or SNP data validation
Paternal
TECPR2
engchuan_15_ASD_discovery_controls-controlB777599_1007853701
Unknown
DYNC1H1
engchuan_15_ASD_discovery_controls-controlB890422_1007874655
Unknown
MOK
engchuan_15_ASD_discovery_controls-controlHABC_900069_900069
Unknown
MOK
engchuan_15_ASD_discovery_controls-controlHABC_901059_901059
Unknown
CINP,TECPR2
engchuan_15_ASD_discovery_controls-controlHABC_901137_901137
Unknown
MIR4309,RN7SL546P,LINC02323,RCOR1
krumm_15_ASD_discovery_controls-control13319.s1
1M-Duov3
Paternal
MOK
levy_11_ASD_discovery_controls-11752.s1
Maternal
Simplex
NA
DYNC1H1
poultney_13_ASD_discovery_controls-control04C33198A
Unknown
SNORD114-14,SNORD114-15,SNORD114-16,SNORD114-17,SNORD114-18,SNORD114-19,SNORD114-20,SNORD114-21,SNORD114-22,SNORD114-23,SNORD114-24,SNORD114-25,SNORD114-26,SNORD114-27,SNORD114-28,SNORD114-29,SNORD114-30,SNORD114-31,MIR379,MIR411,MIR299,MIR380,MIR1197,MIR323A,MIR758,MEG8
poultney_13_ASD_discovery_controls-control05C38932A
Unknown
SNORD114-1,SNORD114-2,SNORD114-3,SNORD114-4,SNORD114-5,SNORD114-6,SNORD114-7,SNORD114-9,SNORD114-10,SNORD114-11,SNORD114-12,SNORD114-13,SNORD114-14,SNORD114-15,SNORD114-16,SNORD114-17,SNORD114-18,SNORD114-19,SNORD114-20,SNORD114-21,SNORD114-22,SNORD114-23,SNORD114-24,SNORD114-25,SNORD114-26,SNORD114-27,SNORD114-28,SNORD114-29,SNORD114-30,SNORD114-31,MEG8
No Animal Model Data Available