18q21.32CNV Type: Deletion-Duplication
Largest CNV size: 45398 bp
Statistics Box:
Number of Reports: 10
Number of Reports: 10
Summary Information
Summary statement in development
Additional Locus Information
References
Major Reports
Title
Author, Year
Report Class
CNV Type
Convergence of genes and cellular pathways dysregulated in autism spectrum disorders.
Duplication
Minor Reports
Title
Author, Year
Report Class
CNV Type
Rare structural variation of synapse and neurotransmission genes in autism.
Deletion
Reduced transcript expression of genes affected by inherited and de novo CNVs in autism.
Deletion
Multiple recurrent de novo CNVs, including duplications of the 7q11.23 Williams syndrome region, are strongly associated with autism.
Deletion-Duplication
Use of array CGH to detect exonic copy number variants throughout the genome in autism families detects a novel deletion in TMLHE.
Deletion
The clinical utility of molecular karyotyping using high-resolution array-comparative genomic hybridization.
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
Large-scale discovery of novel genetic causes of developmental disorders.
Duplication
Performance of case-control rare copy number variation annotation in classification of autism.
Deletion-Duplication
Cases
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
celestino-soper_11_ASD_discovery_cases
ASD probands from Simons Simplex Collection (SSC) trios. 90 of the probands in this study were also used in the Sanders et al. 2011 CNV report.
99
ASD
87.88% Male
201
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
148924
2
4
6
fitzgerald_14_ASD/DD/ID_discovery_cases
Children recruited through all 24 regional genetics services of the UK National Health Service and Republic of Ireland as part of the Deciphering Developmental Disorders Study
1133
Cases affected by severe, undiagnosed developmental disorders; most common phenotypes include developmental delay, intellectual disability, specific learning disability, autism, seizures, microcephaly, and dysmorphic features.
Median age, 5.5 years
N/A
532328
0
1
1
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
20174
3
0
3
nord_11_ASD_discovery_cases
Youth with ASD (as part of mother-father-child trios)
41
ASD
85.4% Male
24310
1
0
1
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
42762
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)
13540
0
1
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
34605
0
1
1
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
45398
9
8
17
tzetis_12_DD/ID_discovery_cases
Patients referred for aCGH analysis from 2008-present
334
Cases presented with at least one of the following clinical indications: developmental delay (DD), intellectual disability (ID), dysmorphic features, unique or multiple congenital anomalies (MCA), growth disorder, behavior disorder, and/or autism (ASD)
Range, 1 month-38 years (median age of 4 years)
800000
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
1299054
0
1
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
369452
1
7
8
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.
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)
0
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.
834928
9
9
18
Cases
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
celestino-soper_11_ASD_discovery_cases
aCGH
Agilent 1M
ADM-2
Agilent Feature Extraction v10.7.3.1, Agilent DNA Analytics v4.0.76
None
engchuan_15_ASD_discovery_cases
Caucasian
Solid phase hybridization
Illumina 1M
None
fitzgerald_14_ASD/DD/ID_discovery_cases
UK and Ireland
aCGH, WES
Agilent 2x1M, Agilent Exome+
Cnsolidate, CoNVex
None
gai_11_ASD_discovery_cases
European
Solid phase hybridization
Illumina Infinium II HumanHap550 BeadChip
BeadStudio 3.0
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
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
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
tzetis_12_DD/ID_discovery_cases
Greece
aCGH
Agilent 244K, Agilent 4x180K
ADM-1
Agilent Feature Extraction V9.1, Agilent CGH Analytics V4.0, Illumina GenomeStudio V2011.1
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
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
sanders_11_ASD_discovery_controls
Solid phase hybridization
Illumina 1M v1 or Illumina 1M v3
PennCNV, QuantiSNP, GNOSIS
qPCR
Cases
Patient ID
Author, Year
Age
Gender
Primary Diagnosis
Clinical Profile
Cognitive Profile
CNV Start
CNV End
CNV Size
Genome Build
Type Method
Validation
celestino-soper_11_ASD_discovery_cases-11186
NA
M
ASD
NA
NA
58862902
58863103
202
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case14374_4870
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
60733745
60806177
72433
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case18164_302
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
60595369
60645984
50616
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case18168_302
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
60600610
60643371
42762
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case21022_1
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
60600610
60646008
45399
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case3431_3
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
60569340
60718264
148925
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case4393_1
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
60600610
60645984
45375
GRCh38
Duplication
No
fitzgerald_14_ASD/DD/ID_discovery_cases-case000014
N/A
N/A
N/A
Clinical profile N/A; CNV from Supplementary Table S18
N/A
60557580
61089908
532329
GRCh38
Duplication
No
gai_11_ASD_discovery_cases-AU1194302
Autism
60433566
60453739
20174
GRCh38
Deletion
No
gai_11_ASD_discovery_cases-AU1194303
Autism
60433566
60453739
20174
GRCh38
Deletion
No
gai_11_ASD_discovery_cases-AU1251302
Autism
60433566
60453739
20174
GRCh38
Deletion
No
nord_11_ASD_discovery_cases-315-1
ASD
56252229
56276538
24310
Unknown
Deletion
No
pinto_14_ASD_discovery_cases2-case18168_302
N/A
M
ASD
Clinical profile: N/A.
Cognitive profile: N/A.
60600610
60643371
42762
GRCh38
Duplication
Yes
poultney_13_ASD_discovery_cases-case99HI0682A
N/A
M
ASD
ASD case from AGRE (AGRE ID AU021204; NDAR ID NDAR_INVTR068FMZ)
58734305
58747844
13540
GRCh38
Duplication
No
sajan_13_ACC/CBLH/PMG_discovery_cases-case1077-0
N/A
N/A
ACC
Diagnosis of agenesis of the corpus callosum (ACC). ASD: no. Seizures: yes.
Developmental delay: yes. Intellectual disability: no.
59210257
59244861
34605
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11129.p1
4.7
F
Autism
NA
Full-scale IQ, 81; non-verbal IQ, 79; verbal IQ 91
59985517
59996583
11067
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11214.p1
15.5
M
ASD
NA
Full-scale IQ, 93; non-verbal IQ, 100; verbal IQ, 83
60448003
60453739
5737
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11258.p1
14.8
M
Autism
NA
Full-scale IQ, 108; non-verbal IQ, 119; verbal IQ, 96
60433566
60460755
27190
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11694.p1
8.8
M
Autism
NA
Full-scale IQ, 99; non-verbal IQ, 89; verbal IQ, 116
60600610
60643371
42762
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11825.p1
6.6
M
Autism
NA
Full-scale IQ, 131; non-verbal IQ, 135; verbal IQ, 115
60605580
60643371
37792
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11834.p1
10.5
M
Autism
NA
Full-scale IQ, 76; non-verbal IQ, 93; verbal IQ, 46
60600610
60643371
42762
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12101.p1
5.1
M
Autism
NA
Full-scale IQ, 61; non-verbal IQ, 73; verbal IQ, 38
60433566
60460755
27190
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12185.p1
7.2
M
Autism
NA
Full-scale IQ, 90; non-verbal IQ, 94; verbal IQ, 86
60433566
60460755
27190
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12252.p1
7.2
M
Autism
NA
Full-scale IQ, 87; non-verbal IQ, 79; verbal IQ, 106
60250802
60256247
5446
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12363.p1
14.3
M
Autism
NA
Full-scale IQ, 108; non-verbal IQ, 108; verbal IQ, 106
59624593
59643376
18784
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12363.p1
14.3
M
Autism
NA
Full-scale IQ, 108; non-verbal IQ, 108; verbal IQ, 106
60600610
60646008
45399
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12417.p1
4.4
M
Autism
NA
Full-scale IQ, 89; non-verbal IQ, 96; verbal IQ, 83
60600610
60643371
42762
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12518.p1
5.8
M
ASD
NA
Full-scale IQ, 88; non-verbal IQ, 95; verbal IQ, 83
59985517
59996583
11067
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12518.p1
5.8
M
ASD
NA
Full-scale IQ, 88; non-verbal IQ, 95; verbal IQ, 83
60450196
60453739
3544
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12798.p1
4.8
M
Autism
NA
Full-scale IQ, 67; non-verbal IQ, 73; verbal IQ, 65
60215892
60260637
44746
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-13080.p1
8.3
F
Autism
NA
Full-scale IQ, 111; non-verbal IQ, 104; verbal IQ, 121
60450196
60453739
3544
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-13136.p1
6.5
M
Autism
NA
Full-scale IQ, 42; non-verbal IQ, 53; verbal IQ, 31
59985517
59996583
11067
GRCh38
Duplication
No
tzetis_12_DD/ID_discovery_cases-case81
F
DD/ID
Scaphocephaly, short forehead, right thumb dysgenesis, body hypotonia, hypertonicity of extremities, heart defects, ompholocele, secondary interauricular communication
59682975
60451153
768179
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-controlSSC06581
N/A
M
Control
Control from SSC cohort
59730892
61029945
1299054
GRCh38
Duplication
Yes
engchuan_15_ASD_discovery_controls-control110036018406_
N/A
N/A
Control
No previous psychiatric history
60506052
60875504
369453
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlB391087_1007840223
N/A
N/A
Control
No previous psychiatric history
59007759
59055712
47954
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlB419502_1007871739
N/A
N/A
Control
No previous psychiatric history
60600610
60646008
45399
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlB641961_1007872279
N/A
N/A
Control
No previous psychiatric history
60600610
60647019
46410
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlB834607_0067942618
N/A
N/A
Control
No previous psychiatric history
60605580
60646008
40429
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlB916240_1007854325
N/A
N/A
Control
No previous psychiatric history
60038756
60125977
87222
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlB921878_0067943241
N/A
N/A
Control
No previous psychiatric history
60600610
60645984
45375
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlHABC_900071_900071
N/A
N/A
Control
No previous psychiatric history
59986398
60246201
259804
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11227.s1
14.5
M
Control (matched sibling)
NA
NA
60433566
60453739
20174
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11239.s1
15.1
M
Control (matched sibling)
NA
NA
59985517
59996583
11067
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11694.s1
6.6
F
Control (matched sibling)
NA
NA
60600610
60643371
42762
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11720.s1
11.6
F
Control (matched sibling)
NA
NA
60433566
60453739
20174
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12101.s1
5.1
M
Control (matched sibling)
NA
NA
60433566
60453739
20174
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12225.s1
16.4
M
Control (matched sibling)
NA
NA
60839787
60841804
2018
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12252.s1
4.1
M
Control (matched sibling)
NA
NA
60250802
60256247
5446
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12255.s1
14.6
M
Control (matched sibling)
NA
NA
60450196
60453739
3544
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12316.s1
8
M
Control (matched sibling)
NA
NA
60433566
60460755
27190
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12363.s1
21.9
M
Control (matched sibling)
NA
NA
60600610
60643371
42762
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-12518.s1
4.7
F
Control (matched sibling)
NA
NA
59985517
59996583
11067
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-12596.s1
6.3
F
Control (matched sibling)
NA
NA
60926956
60990093
63138
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12748.s1
4.2
M
Control (matched sibling)
NA
NA
60605580
60643371
37792
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-13023.s1
8.8
M
Control (matched sibling)
NA
NA
59730896
60108063
377168
GRCh38
Duplication
Yes
sanders_11_ASD_discovery_controls-13023.s1
8.8
M
Control (matched sibling)
NA
NA
60183122
61018050
834929
GRCh38
Duplication
Yes
sanders_11_ASD_discovery_controls-13088.s1
13.8
F
Control (matched sibling)
NA
NA
59985517
59996583
11067
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-13136.s1
4.3
F
Control (matched sibling)
NA
NA
59985517
59996583
11067
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-13166.s1
5.6
M
Control (matched sibling)
NA
NA
60976211
60990093
13883
GRCh38
Deletion
No
Cases
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
celestino-soper_11_ASD_discovery_cases-11186
Unknown
Simplex
NA
ZNF532
engchuan_15_ASD_discovery_cases-case14374_4870
Unknown
HMGN1P31
engchuan_15_ASD_discovery_cases-case18164_302
Unknown
engchuan_15_ASD_discovery_cases-case18168_302
Unknown
engchuan_15_ASD_discovery_cases-case21022_1
Unknown
engchuan_15_ASD_discovery_cases-case3431_3
Unknown
CTBP2P3
engchuan_15_ASD_discovery_cases-case4393_1
Unknown
fitzgerald_14_ASD/DD/ID_discovery_cases-case000014
De novo
Unknown
Unknown
CTBP2P3,HMGN1P31
gai_11_ASD_discovery_cases-AU1194302
Inherited
gai_11_ASD_discovery_cases-AU1194303
Inherited
gai_11_ASD_discovery_cases-AU1251302
Inherited
nord_11_ASD_discovery_cases-315-1
Maternal
0 genes
pinto_14_ASD_discovery_cases2-case18168_302
qPCR
Paternal
Simplex
no affected sib
poultney_13_ASD_discovery_cases-case99HI0682A
Unknown
Unknown (likely multiplex/AGRE)
Unknown
MALT1
sajan_13_ACC/CBLH/PMG_discovery_cases-case1077-0
qPCR (CNV not detected)
Biparental/Diploid copy number
Unknown
Unknown
GRP
sanders_11_ASD_discovery_cases-11129.p1
Paternal
Simplex (trio)
NA
sanders_11_ASD_discovery_cases-11214.p1
Paternal
Simplex (quad-proband matched)
Segregated
sanders_11_ASD_discovery_cases-11258.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11694.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11825.p1
Maternal
Simplex (trio)
NA
sanders_11_ASD_discovery_cases-11834.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12101.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12185.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12252.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12363.p1
Paternal
Simplex (quad-proband matched)
Not segregated
CCBE1
sanders_11_ASD_discovery_cases-12363.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12417.p1
Paternal
Simplex (trio)
NA
sanders_11_ASD_discovery_cases-12518.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12518.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12798.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-13080.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-13136.p1
Maternal
Simplex (quad-proband matched)
Not segregated
tzetis_12_DD/ID_discovery_cases-case81
Unknown
Unknown
RPS26P54,GLUD1P4,PMAIP1,NFE2L3P1,RN7SL342P,SDCCAG3P1,SINHCAFP2,RNU6-567P,RPS3AP49,RNU4-17P,MC4R,CCBE1
Controls
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
brandler_18_ASD_discovery_controls-controlSSC06581
SNP VCF
De novo
RPS26P54,GLUD1P4,PMAIP1,NFE2L3P1,RN7SL342P,SDCCAG3P1,SINHCAFP2,RNU6-567P,RPS3AP49,RNU4-17P,MC4R,MRPS5P4,CTBP2P3,HMGN1P31
engchuan_15_ASD_discovery_controls-control110036018406_
Unknown
MRPS5P4,CTBP2P3,HMGN1P31
engchuan_15_ASD_discovery_controls-controlB391087_1007840223
Unknown
OACYLP
engchuan_15_ASD_discovery_controls-controlB419502_1007871739
Unknown
engchuan_15_ASD_discovery_controls-controlB641961_1007872279
Unknown
engchuan_15_ASD_discovery_controls-controlB834607_0067942618
Unknown
engchuan_15_ASD_discovery_controls-controlB916240_1007854325
Unknown
engchuan_15_ASD_discovery_controls-controlB921878_0067943241
Unknown
engchuan_15_ASD_discovery_controls-controlHABC_900071_900071
Unknown
SDCCAG3P1,SINHCAFP2,RNU6-567P,RPS3AP49,RNU4-17P
sanders_11_ASD_discovery_controls-11227.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11239.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11694.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11720.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12101.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12225.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12252.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12255.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12316.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12363.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12518.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12596.s1
Unknown
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12748.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-13023.s1
qPCR
De Novo
Simplex (quad)
NA
RPS26P54,GLUD1P4,PMAIP1,NFE2L3P1,RN7SL342P,SDCCAG3P1,SINHCAFP2,RNU6-567P
sanders_11_ASD_discovery_controls-13023.s1
qPCR
De Novo
Simplex (quad)
NA
MC4R,MRPS5P4,CTBP2P3,HMGN1P31
sanders_11_ASD_discovery_controls-13088.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-13136.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-13166.s1
Paternal
Simplex (quad)
NA
No Animal Model Data Available