Xq22.3CNV Type: Deletion-Duplication
Largest CNV size: 733944 bp
Statistics Box:
Number of Reports: 13
Number of Reports: 13
Summary Information
Summary statement in development
Additional Locus Information
References
Major Reports
Title
Author, Year
Report Class
CNV Type
Structural variation of chromosomes in autism spectrum disorder.
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...
Deletion-Duplication
Molecular karyotyping by array CGH in a Russian cohort of children with intellectual disability, autism, epilepsy and congenital anomalies.
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
Microduplications at the pseudoautosomal SHOX locus in autism spectrum disorders and related neurodevelopmental conditions.
Duplication
Minor Reports
Title
Author, Year
Report Class
CNV Type
Rare structural variation of synapse and neurotransmission genes 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.
Duplication
Performance of case-control rare copy number variation annotation in classification of autism.
Deletion-Duplication
Copy-number variations are enriched for neurodevelopmental genes in children with developmental coordination disorder.
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
245000
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
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
159164
1
5
6
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
478740
0
1
1
iourov_12_ASD/ID/EP_discovery_cases
Individuals selected from a total of 2426 patients whom had been evaluated cytogenetically and molecularly between November 2007 and May 2012
54
Intellectual disability (ID), autism/ASD, epilepsy (EP), and/or congenital anomalies
Range, 3 mos.-11 yrs.
NA
86206
1
0
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
741717
1
5
6
krumm_15_ASD_discovery_cases
Probands from the Simons Simplex Collection
2377
Diagnosis of ASD
N/A
N/A
313692
0
2
2
marshall_08_ASD_discovery_cases
Cohort of ASD families (237 simplex, 189 mulitplex) recruited from the Hospital for Sick Children, McMaster Univ., Memorial Univ., and other sites
427
ASD
485000
0
1
1
mosca_16_DCD_discovery_cases
Participants recruited as part of a multidisciplinary study at the Alberta Children's Hospital (Calgary, Alberta, Canada)
82
All cases met diagnostic criteria for developmental coordination disorder (DCD) with or without co-occurring ADHD and/or reading disorder.
Range, 8-17 years (Mean, 10.06 2.92 yrs.)
N/A
501179
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
156231
0
2
2
prasad_12_ASD_discovery_cases
Unrelated ASD cases recruited from three Canadian sites (Hospital for Sick Children, McMaster University, and Memorial University of Newfoundland); the majority of cases had been previously genotyped with results published in Marshall et al., 2008 and Pinto et al., 2010. 20 cases from initial cohort of 696 were excluded from further analysis (due to CNVs > 5 Mb).
676
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS
NA
82.84% Male
615813
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
733944
7
5
12
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
507153
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
536820
3
5
8
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
313692
0
1
1
marshall_08_ASD_discovery_controls_1
German PopGen project and entries from Database of Genomic Variants
500
Controls
0
0
0
0
marshall_08_ASD_discovery_controls_2
Non-disease controls from Ontario population
1152
Controls
0
0
0
0
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.
54148
0
1
1
prasad_12_ASD_discovery_controls
PDx controls [1000 DNA samples from reportedly healthy donors (50.2% male) from BioServe (Beltsville, MD)] and 4139 in-house controls previously reported in Krawcak et al. 2006, Stewart et al. 2009, and Bierut et al. 2010. CNVs identified in controls were used to define rare ASD-specific CNVs.
5139
Control
NA
NA (PDx controls 50.2% male)
615813
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.
527229
16
9
25
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
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
iourov_12_ASD/ID/EP_discovery_cases
Russian
aCGH
BACs aCGH
FISH
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)
marshall_08_ASD_discovery_cases
90% European, 4.5% European-mixed, 4.5% Asian, 0.07% African
Array SNP, karotyping
Affymetrix 500K
dChip, CNAG, GEMCA
qPCR, qmPCR
mosca_16_DCD_discovery_cases
Canada
Solid phase hybridization
Illumina HumanOmni2.5-Quad BeadChip
iPattern, PennCNV, QuantiSNP, CNVPartition
None
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)
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
tropeano_16_ASD_discovery_cases
United Kingdom
aCGH
Agilent 60K
ADM-2
Agilent Feature Extraction, Agilent Genomic Workbench
MLPA, aCGH
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)
marshall_08_ASD_discovery_controls_1
European
Array SNP, karotyping
Affymetrix 500K
dChip, CNAG, GEMCA
marshall_08_ASD_discovery_controls_2
European
Array SNP, karotyping
Affymetrix 500K
dChip, CNAG, GEMCA
nord_11_ASD_discovery_controls
aCGH
NimbleGen HD2
Sliding-window algorithm, ~10 kb minumum size threshold
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
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-case60984
4 yrs.
F
Developmental delay
Developmental delay, growth hormone deficiency, celiac disease, hypoplastic left kidney. Duplication inherited from healthy father.
110914536
111159929
245394
GRCh38
Duplication
Yes
battaglia_13_DD/ID/ASD_discovery_cases-case32
3 yrs. 2 mos.
M
Developmental delay/intellectual disability
Autism: no. Epilepsy: no. Dysmorphic features: yes. Brother of battaglia_13_DD/ID/ASD_discovery_cases-case33.
Mild DD/ID
105483884
106729581
1245698
GRCh38
Deletion
Yes
battaglia_13_DD/ID/ASD_discovery_cases-case33
6 yrs. 4 mos.
M
Developmental delay/intellectual disability
Autism: no. Epilepsy: no. Dysmorphic features: yes. Brother of battaglia_13_DD/ID/ASD_discovery_cases-case32.
Mild DD/ID
105483884
106729581
1245698
GRCh38
Deletion
Yes
engchuan_15_ASD_discovery_cases-case2190_1
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
104911480
104945882
34403
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case3540_2
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
106754058
106827395
73338
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case3543_4
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
106000770
106075364
74595
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case4208_1
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
110153348
110312512
159165
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case4229_1
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
104911480
104985409
73930
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case5468_3
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
108635922
108760266
124345
GRCh38
Duplication
No
gai_11_ASD_discovery_cases-AU1546302
Autism
104488391
104967130
478740
Unknown
Duplication
No
iourov_12_ASD/ID/EP_discovery_cases-case53
6 yrs.
F
Developmental delay
Speech delay, microcephaly, cleft palate, facial dysmorphisms.
Developmental delay
110406194
110492400
86207
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000844
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
108318888
108778027
459140
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001831
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
105891235
106425782
534548
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001903
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
109690866
110088881
398016
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002749
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
110874013
111175998
301986
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00003977
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
107523862
108265579
741718
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004864
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
110192980
110500458
307479
GRCh38
Deletion
Yes
krumm_15_ASD_discovery_cases-case12009.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Trio
109375898
109475936
100039
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_cases-case13119.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Trio
105893831
106207523
313693
GRCh38
Duplication
Yes
marshall_08_ASD_discovery_cases-SK0228-003
NA
M
ASD
NA
NA
105102173
105587862
485690
GRCh38
Duplication
Yes
mosca_16_DCD_discovery_cases-case120203
N/A
F
DCD (with or without ADHD and/or RD)
Ancestry: unknown. Family history: maternal diagnosis unknown; paternal diagnosis unknown.
105894579
106396520
501942
GRCh38
Duplication
No
pinto_10_ASD_discovery_cases-case5468_3
NA
M
Autism
Below average language (<1%ile), no epilepsy, no dysmorphic features
Average nonverbal IQ (50%ile)
108635922
108760266
124345
GRCh38
Duplication
Yes
prasad_12_ASD_discovery_cases-case46475
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
104041767
104077496
35730
Unknown
Duplication
No
prasad_12_ASD_discovery_cases-case62083
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
104148957
104764769
615813
Unknown
Duplication
No
sanders_11_ASD_discovery_cases-11239.p1
17.3
F
Autism
NA
Full-scale IQ, 123; non-verbal IQ, 109; verbal IQ, 140
106281627
106301733
20107
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11567.p1
9.4
F
Autism
NA
Full-scale IQ, 48; non-verbal IQ, 55; verbal IQ, 34
105356829
105374133
17305
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11567.p1
9.4
F
Autism
NA
Full-scale IQ, 48; non-verbal IQ, 55; verbal IQ, 34
109894708
109931824
37117
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11879.p1
5.3
F
Autism
NA
Full-scale IQ, 78; non-verbal IQ, 89; verbal IQ, 69
107625744
107627573
1830
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11879.p1
5.3
F
Autism
NA
Full-scale IQ, 78; non-verbal IQ, 89; verbal IQ, 69
104911480
104918477
6998
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11913.p1
4.5
F
Autism
NA
Full-scale IQ, 102; non-verbal IQ, 99; verbal IQ, 105
109893013
109931824
38812
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11918.p1
9.8
F
Autism
NA
Full-scale IQ, 48; non-verbal IQ, 59; verbal IQ, 39
106638810
106670433
31624
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11918.p1
9.8
F
Autism
NA
Full-scale IQ, 48; non-verbal IQ, 59; verbal IQ, 39
111105427
111170222
64796
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12009.p1
6.8
M
Autism
NA
Full-scale IQ, 78; non-verbal IQ, 87; verbal IQ, 69
108757285
109491230
733946
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12184.p1
12.9
F
Autism
NA
Full-scale IQ, 28; non-verbal IQ, 31; verbal IQ, 21
110914268
111005660
91393
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12540.p1
6.9
F
Autism
NA
Full-scale IQ, 104; non-verbal IQ, 104; verbal IQ, 105
107625744
107627573
1830
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-13296.p1
5.9
M
Autism
NA
Full-scale IQ, 30; non-verbal IQ, 44; verbal IQ, 15
105142389
105149283
6895
GRCh38
Deletion
No
tropeano_16_ASD_discovery_cases-MAAS26
40-49 yrs.
M
ASD
Case diagnosed with Asperger's syndrome based on ICD-10 research criteria; diagnosis confirmed using ADOS and ADI-R. Number of additional co-morbid mental health conditions (diagnosed in accordance with ICD-10R or DSM-IV) at time of initital assessment: 2.
105923112
106431027
507916
GRCh38
Duplication
Yes
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-controlB225250_1007853739
N/A
N/A
Control
No previous psychiatric history
105891904
106429487
537584
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlB277797_1007853793
N/A
N/A
Control
No previous psychiatric history
108568274
108664792
96519
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlB312630_0067942574
N/A
N/A
Control
No previous psychiatric history
108456582
108625949
169368
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlB529429_1007872251
N/A
N/A
Control
No previous psychiatric history
108644598
108785559
140962
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlB771049_1007845881
N/A
N/A
Control
No previous psychiatric history
105308272
105477577
169306
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlB970978_1007872549
N/A
N/A
Control
No previous psychiatric history
110523585
110667474
143890
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlHABC_900716_900716
N/A
N/A
Control
No previous psychiatric history
106271380
106514016
242637
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlHABC_901029_901029
N/A
N/A
Control
No previous psychiatric history
110289464
110675653
386190
GRCh38
Duplication
No
krumm_15_ASD_discovery_controls-control12798.s1
N/A
Female
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
105893831
106207523
313693
GRCh38
Duplication
Yes
nord_11_ASD_discovery_controls-04C27869
Control
105440374
105494521
54148
Unknown
Duplication
sanders_11_ASD_discovery_controls-11299.s1
4.3
M
Control (matched sibling)
NA
NA
110894286
110914268
19983
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11330.s1
11.8
F
Control (matched sibling)
NA
NA
107625744
107627573
1830
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11564.s1
6.3
F
Control (matched sibling)
NA
NA
105338260
105357057
18798
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11794.s1
4.3
F
Control (matched sibling)
NA
NA
110359004
110389300
30297
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11941.s1
8.7
F
Control (matched sibling)
NA
NA
110375080
110389300
14221
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11941.s1
8.7
F
Control (matched sibling)
NA
NA
107625744
107627573
1830
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11941.s1
8.7
F
Control (matched sibling)
NA
NA
107535889
107556786
20898
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11941.s1
8.7
F
Control (matched sibling)
NA
NA
105338260
105374133
35874
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12117.s1
12
F
Control (matched sibling)
NA
NA
107625744
107627573
1830
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-12175.s1
6.7
F
Control (matched sibling)
NA
NA
111109913
111122551
12639
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12184.s1
10.4
F
Control (matched sibling)
NA
NA
107625744
107627573
1830
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-12184.s1
10.4
F
Control (matched sibling)
NA
NA
105338260
105379076
40817
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12231.s1
12.3
F
Control (matched sibling)
NA
NA
107625744
107627573
1830
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-12434.s1
8.8
F
Control (matched sibling)
NA
NA
105538644
105595730
57087
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-12447.s1
7.6
F
Control (matched sibling)
NA
NA
106286984
106307709
20726
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12518.s1
4.7
F
Control (matched sibling)
NA
NA
105356829
105390540
33712
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12540.s1
4.5
F
Control (matched sibling)
NA
NA
107625744
107627573
1830
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-12638.s1
17.8
F
Control (matched sibling)
NA
NA
110375080
110389300
14221
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12798.s1
8.1
F
Control (matched sibling)
NA
NA
105891904
106419896
527993
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-12892.s1
15.4
F
Control (matched sibling)
NA
NA
107535889
107558366
22478
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12972.s1
7.2
F
Control (matched sibling)
NA
NA
105335626
105380475
44850
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-13076.s1
19.5
F
Control (matched sibling)
NA
NA
111029498
111055779
26282
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-13136.s1
4.3
F
Control (matched sibling)
NA
NA
107625744
107627573
1830
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-13233.s1
10.5
F
Control (matched sibling)
NA
NA
105338260
105374133
35874
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-13296.s1
4.3
F
Control (matched sibling)
NA
NA
106636118
106730668
94551
GRCh38
Deletion
No
Cases
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
asadollahi_14_NDD_discovery_cases-case60984
MLPA
Paternal
Unknown
Unknown
PAK3
battaglia_13_DD/ID/ASD_discovery_cases-case32
FISH or qPCR
Maternal
Maternal
Multiplex
Segregated
RNU6-207P,NAP1L4P2,SERPINA7P1,MIR548AN,RNF128,SERPINA7,IL1RAPL2,NRK
battaglia_13_DD/ID/ASD_discovery_cases-case33
FISH or qPCR
Maternal
Maternal
Multiplex
Segregated
RNU6-207P,NAP1L4P2,SERPINA7P1,MIR548AN,RNF128,SERPINA7,IL1RAPL2,NRK
engchuan_15_ASD_discovery_cases-case2190_1
Unknown
IL1RAPL2
engchuan_15_ASD_discovery_cases-case3540_2
Unknown
RNF128,TBC1D8B,MORC4
engchuan_15_ASD_discovery_cases-case3543_4
Unknown
SERPINA7
engchuan_15_ASD_discovery_cases-case4208_1
Unknown
SNORD96B,AMMECR1-IT1,AMMECR1,TMEM164
engchuan_15_ASD_discovery_cases-case4229_1
Unknown
IL1RAPL2
engchuan_15_ASD_discovery_cases-case5468_3
Unknown
IRS4,COL4A5
gai_11_ASD_discovery_cases-AU1546302
Inherited
IL1RAPL2, NRK
iourov_12_ASD/ID/EP_discovery_cases-case53
FISH
Unknown
Unknown
Unknown
AMMECR1,RTL9
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000844
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Maternal
Unknown
Unknown
IRS4,COL4A6,COL4A5
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001831
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Maternal
Unknown
Unknown
SERPINA7,NRK
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001903
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Maternal
Unknown
Unknown
RPS5P7,MIR652,MIR3978,ACSL4,TMEM164
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002749
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Paternal
Unknown
Unknown
FCF1P4,PAK3
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00003977
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Paternal
Unknown
Unknown
NLRP3P1,TEX13B,FRMPD3-AS1,FRMPD3,PRPS1,NCBP2L,VSIG1,PSMD10,TSC22D3,MID2,ATG4A,COL4A6
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004864
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
SNORD96B,AMMECR1-IT1,GNG5P2,AMMECR1,RTL9
krumm_15_ASD_discovery_cases-case12009.p1
Illumina 1MDuo
Maternal
Simplex
Segregated
GUCY2F
krumm_15_ASD_discovery_cases-case13119.p1
1M-Duov3
Maternal
Simplex
Segregated
SERPINA7,NRK
marshall_08_ASD_discovery_cases-SK0228-003
qPCR, qmPCR
Unknown
NA
NA
TEX13A,KCTD9P2,IL1RAPL2
mosca_16_DCD_discovery_cases-case120203
Unknown
Unknown
Unknown
SERPINA7,NRK
pinto_10_ASD_discovery_cases-case5468_3
qPCR-Maternal
maternal
Simplex
NA
IRS4,COL4A5
prasad_12_ASD_discovery_cases-case46475
Unknown
Unknown
Unknown
IL1RAPL2
prasad_12_ASD_discovery_cases-case62083
Unknown
Unknown
Unknown
TEX13A,IL1RAPL2
sanders_11_ASD_discovery_cases-11239.p1
Both parents
Simplex (quad-proband matched)
Segregated
sanders_11_ASD_discovery_cases-11567.p1
Both parents
Simplex (quad-proband matched)
Segregated
IL1RAPL2
sanders_11_ASD_discovery_cases-11567.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11879.p1
Unknown
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11879.p1
Both parents
Simplex (quad-proband matched)
Segregated
IL1RAPL2
sanders_11_ASD_discovery_cases-11913.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11918.p1
Both parents
Simplex (quad-proband matched)
Not segregated
MIR548AN
sanders_11_ASD_discovery_cases-11918.p1
Paternal
Simplex (quad-proband matched)
Not segregated
FCF1P4,PAK3
sanders_11_ASD_discovery_cases-12009.p1
Maternal
Simplex (trio)
NA
RNU6-309P,GUCY2F
sanders_11_ASD_discovery_cases-12184.p1
Paternal
Simplex (quad-proband matched)
Not segregated
PAK3
sanders_11_ASD_discovery_cases-12540.p1
Unknown
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-13296.p1
Maternal
Simplex (quad-proband matched)
Not segregated
IL1RAPL2
tropeano_16_ASD_discovery_cases-MAAS26
MLPA or aCGH
Unknown
Unknown
Unknown
SERPINA7,NRK
Controls
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
engchuan_15_ASD_discovery_controls-controlB225250_1007853739
Unknown
SERPINA7,NRK
engchuan_15_ASD_discovery_controls-controlB277797_1007853793
Unknown
COL4A5
engchuan_15_ASD_discovery_controls-controlB312630_0067942574
Unknown
COL4A5
engchuan_15_ASD_discovery_controls-controlB529429_1007872251
Unknown
IRS4,COL4A5
engchuan_15_ASD_discovery_controls-controlB771049_1007845881
Unknown
KCTD9P2,IL1RAPL2
engchuan_15_ASD_discovery_controls-controlB970978_1007872549
Unknown
engchuan_15_ASD_discovery_controls-controlHABC_900716_900716
Unknown
NAP1L4P2
engchuan_15_ASD_discovery_controls-controlHABC_901029_901029
Unknown
AMMECR1-IT1,GNG5P2,TDGF1P3,AMMECR1,RTL9,CHRDL1
krumm_15_ASD_discovery_controls-control12798.s1
Illumina 1MDuo
Paternal
SERPINA7,NRK
nord_11_ASD_discovery_controls-04C27869
0 genes
sanders_11_ASD_discovery_controls-11299.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11330.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11564.s1
Paternal
Simplex (quad)
NA
IL1RAPL2
sanders_11_ASD_discovery_controls-11794.s1
Paternal
Simplex (quad)
NA
AMMECR1,RTL9
sanders_11_ASD_discovery_controls-11941.s1
Paternal
Simplex (quad)
NA
AMMECR1,RTL9
sanders_11_ASD_discovery_controls-11941.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11941.s1
Paternal
Simplex (quad)
NA
FRMPD3-AS1,FRMPD3
sanders_11_ASD_discovery_controls-11941.s1
Paternal
Simplex (quad)
NA
IL1RAPL2
sanders_11_ASD_discovery_controls-12117.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12175.s1
Both parents
Simplex (quad)
NA
PAK3
sanders_11_ASD_discovery_controls-12184.s1
Unknown
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12184.s1
Paternal
Simplex (quad)
NA
IL1RAPL2
sanders_11_ASD_discovery_controls-12231.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12434.s1
Paternal
Simplex (quad)
NA
IL1RAPL2
sanders_11_ASD_discovery_controls-12447.s1
Both parents
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12518.s1
Paternal
Simplex (quad)
NA
IL1RAPL2
sanders_11_ASD_discovery_controls-12540.s1
Unknown
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12638.s1
Paternal
Simplex (quad)
NA
AMMECR1,RTL9
sanders_11_ASD_discovery_controls-12798.s1
Paternal
Simplex (quad)
NA
SERPINA7,NRK
sanders_11_ASD_discovery_controls-12892.s1
Both parents
Simplex (quad)
NA
FRMPD3-AS1,FRMPD3
sanders_11_ASD_discovery_controls-12972.s1
Paternal
Simplex (quad)
NA
IL1RAPL2
sanders_11_ASD_discovery_controls-13076.s1
Paternal
Simplex (quad)
NA
PAK3
sanders_11_ASD_discovery_controls-13136.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-13233.s1
Paternal
Simplex (quad)
NA
IL1RAPL2
sanders_11_ASD_discovery_controls-13296.s1
Both parents
Simplex (quad)
NA
MIR548AN,RNF128
No Animal Model Data Available