19p13.12CNV Type: Deletion-Duplication
Largest CNV size: 836848 bp
Statistics Box:
Number of Reports: 18
Number of Reports: 18
Summary Information
Summary statement in development
Additional Locus Information
References
Major 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
An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabili...
Duplication
Transmission disequilibrium of small CNVs in simplex autism.
Duplication
Excess of rare, inherited truncating mutations in autism.
Deletion-Duplication
Reciprocal Relationship between Head Size, an Autism Endophenotype, and Gene Dosage at 19p13.12 Points to AKAP8 and AKAP8L.
Deletion-Duplication
Paternally inherited cis-regulatory structural variants are associated with autism.
Deletion
Understanding the new BRD4-related syndrome: Clinical and genomic delineation with an international cohort study
Deletion
Minor Reports
Title
Author, Year
Report Class
CNV Type
Rare de novo and transmitted copy-number variation in autistic spectrum disorders.
Deletion-Duplication
Use of array CGH to detect exonic copy number variants throughout the genome in autism families detects a novel deletion in TMLHE.
Duplication
Relative burden of large CNVs on a range of neurodevelopmental phenotypes.
Deletion
A discovery resource of rare copy number variations in individuals with autism spectrum disorder.
Deletion-Duplication
Prospective diagnostic analysis of copy number variants using SNP microarrays in individuals with autism spectrum disorders.
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
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
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
1028
1
0
1
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
246
0
1
1
engchuan_15_ASD_discovery_cases
Samples from the Autism Genome Project (AGP)
1892
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
N/A
85.78% Male
35988
0
2
2
girirajan_11_ASD_discovery_cases
ASD cases with sporadic autism from the Simons Simplex Collection (SSC)
336
Diagnosis of ASD based on meeting criteria on ADOS, ADI-R, and expert clinical judgment. 246 cases with no intellectual disability, 90 cases with intellectual disability. Exclusion criteria: significant hearing, vision, or motor problems; significant birth complications; a diagnosis of ASD-related disorders, such as Fragile X; or having a relative (up to 3rd degree) with ASD or sibling showing ASD-related symptoms.
303385
2
0
2
jouret_22_DD/ID_discovery_cases
Individuals with de novo deletions affecting the BRD4 gene (from an initial cohort of 14 patients with BRD4 variation) organized in an international collaborative project with the European Reference Network Ithaca (www. ern-ithaca.eu), reinforced by the collaboration of the French Cytogenetic Society network (ACLF).
6
Two cases were medically terminated fetuses (due to multiple congenital anomalies); the remaining four cases all presented with developmental delay (DD), with one case also presenting with intellectual disability (ID).
Range, fetus-20 yrs.
50% Male
1141587
2
0
2
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
269338
0
1
1
krumm_13_ASD_discovery_cases
Probands from quad families ascertained as part of the Simons Simplex Collection (SSC); CNVs detected using data from four previously published exome sequencing studies (O'Roak et al., 2011; Iossifov et al., 2012; O'Roak et al., 2012; Sanders et al., 2012)
411
Diagnosis of ASD. Social Responsiveness Scale (SRS) used as a quantitative measure of social deficits
N/A
81.265% Male
985849
0
2
2
krumm_15_ASD_discovery_cases
Probands from the Simons Simplex Collection
2377
Diagnosis of ASD
N/A
N/A
985849
1
8
9
levy_11_ASD_discovery_cases
Autistic probands from 887 families from the Simons Simplex Collection (SSC)
858
ASD
87.06% Male
245301
2
1
3
maini_18_ASD/DD/ID_discovery_cases
Patients evaluated at the Clinical Genetics Unit of Arcispedale Santa Maria Nuova, AUSL-IRCCS of Reggio Emilia that were investigated through aCGH between 2005 and 2016
293
Cases presented with one or more neurodevelopmental disorders (NDD), multiple congenital anomalies (MCA), and/or dysmorphic features. Most frequent neurodevelopmental diagnoses include language delay (78.5%), intellectual disability (66.4%), motor delay (50.7%), and ASD (13.9%); dysmorphic features were also frequently observed (52.7%)
Mean age, 7 yrs. (range, 1 mo.-29 yrs.)
57.5% Male
319000
0
1
1
nava_13_ASD_discovery_cases
Subjects recruited in the Centre de Reference deficiences intellectuelles de causes rares', the 'Centre Diagnostic Autisme', Pitie-Salpetriere Hospital (Paris, France) or the Fondation Lejeune over a period of 3 years (20092011).
194
Cases assessed with ADI-R
N/A
83.5% Male
49000
0
1
1
nebel_15_ASD/ID_discovery_cases
Second child born to healthy non-consanguineous parents of African and European descent
1
Case presented with autism, developmental delay, and macrocephaly at age of 3.5 years; additional diagnosis of intellectual disability at age of 11 years.
16 yrs.
Male
760000
0
1
1
nebel_15_DD/ID_discovery_cases
Cases from DECIPHER and other publications with overlapping events at the 19p13.12 locus
16
Cases presented with at least one of the following phenotypes: developmental delay, intellectual disability, microcephaly, or macrocephaly
N/A
50.00% Male
1920000
5
2
7
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)
14589
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
24838
1
1
2
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
32222
0
1
1
sanchis_juan_23_ASD/DD/ID_discovery_cases
Individuals affected with a neurodevelopmental disorder (NDD) from the National Institute for Health and Care Research (NIHR) BioResource project.
489
73% (357/489) of the participants in this study had autism spectrum disorder (ASD), developmental delay (DD), intellectual disability (ID), a movement disorder or dystonia, and/or seizures.
NA
NA
9351
2
0
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
836848
2
6
8
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
53352
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
1028
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
330500
1
3
4
girirajan_11_ASD_discovery_controls
Control individuals ascertained by NIMH Genetics Initiative. DNA samples from these individuals were obtained from the Rutgers Univ. Cell & DNA Repository.
337
Control. Individuals screened specifically for eight mental health disorders.
303385
0
0
0
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
kanduri_15_ASD_discovery_controls
Unrelated Finnish samples from the cohort of Health 2000 survey from an initial sample of 288 individuals following quality control
269
Controls screened for DSM-IV mental disorders using the Composite International Diagnostic Interview and psychotic disorders using the research version of the Structured Clinical Interview for DSM-IV
N/A
N/A
39600
0
1
1
krumm_13_ASD_discovery_controls
Unaffected siblings of ASD probands from quad families ascertained as part of the Simons Simplex Collection (SSC); CNVs detected using data from four previously published exome sequencing studies (O'Roak et al., 2011; Iossifov et al., 2012; O'Roak et al., 2012; Sanders et al., 2012)
411
Control (unaffected siblings of ASD probands). Social Responsiveness Scale (SRS) used as a quantitative measure of social deficits
N/A
46.47% Male
10404
1
1
2
krumm_15_ASD_discovery_controls
Unaffected siblings from quad families from the Simons Simplex Collection
1786
Control
N/A
N/A
207707
1
3
4
levy_11_ASD_discovery_controls
Unaffected siblings of autistic probands from 887 families from the Simons Simplex Collection (SSC)
863
Control
47.97% Male
245301
1
0
1
poultney_13_ASD_discovery_controls
Controls matched for European ancestry from NIMH and CEPH retained after filtering (original cohort size of 379 controls)
260
Control
N/A
47.49% Male (before filtering)
14589
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)
24838
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.
244363
2
1
3
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
53352
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
PCR, array SNP
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
girirajan_11_ASD_discovery_cases
aCGH
Custom microarray targeting 107 genomic hotspot regions (Roche NimbleGen Hotspot v1.0 array; 12 x 135K)
HMM
None
jouret_22_DD/ID_discovery_cases
NA
CMA
CGH 4x44K, 6x60K, 8x60K, 4x180K, Agilent microarrays
NA
NA
qPCR, 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_13_ASD_discovery_cases
N/A
WES
Whole exome sequencing platforms used in four recent publications (O'Roak et al., 2011; Sanders et al., 2012; O'Roak et al., 2012, and Iossifov et al., 2012)
DNACopy, CGHCall
CoNIFER
Solid phase hybridization (Illumina 1M), aCGH (Agilent SurePrint G3 4x180K), or confirmed by manual inspection
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
maini_18_ASD/DD/ID_discovery_cases
Italian
aCGH, array SNP
Multiple platforms, including Agilent and Affymetrix arrays (8x60K oligochips since 2012)
None
nava_13_ASD_discovery_cases
France
Solid phase hybridization
Illumina cytoSNP-12, Illumina 660W-Quad, Illumina 370CNV-Quad
GenomeStudio v.2011.1, CNVPartition v.3.1.6
None
nebel_15_ASD/ID_discovery_cases
African and European
aCGH
Agilent 44K custom array
FISH, array SNP (Affymetrix 6.0)
nebel_15_DD/ID_discovery_cases
N/A
N/A
N/A
N/A
poultney_13_ASD_discovery_cases
European
WES
Agilent SureSelect Human All Exon v.2
XHMM
None
prasad_12_ASD_discovery_cases
Canada
aCGH
Agilent 1M
ADM-2, DNAcopy (R Bioconductor)
DNA Analytics v4.0.85 (Agilent), DNAcopy
None
sajan_13_ACC/CBLH/PMG_discovery_cases
81.31% Caucasian
Solid phase hybridization
Illumina InfiniumII HumanHap610
PennCNV
None (not tested or failure to confirm by qPCR)
sanchis_juan_23_ASD/DD/ID_discovery_cases
United Kingdom
Short-read WGS
Illumina HiSeq 2500/Illumina HiSeq X
Canvas v.1.1.0.5, Manta v.0.23.15
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
qPCR
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
girirajan_11_ASD_discovery_controls
aCGH
Custom microarray targeting 107 genomic hotspot regions (Roche NimbleGen Hotspot v1.0 array; 12 x 135K)
HMM
kaminsky_11_DD/ID/ASD_discovery_controls
NA
aCGH
Agilent 44K, Agilent 105K
Feature Extraction, DNA Analytics
kanduri_15_ASD_discovery_controls
Finnish
Solid phase hybridization
Illumina Infinium HD Human610-Quad BeadChip
QuantiSNP, PennCNV
Illumina BeadStudio
None
krumm_13_ASD_discovery_controls
N/A
WES
Whole exome sequencing platforms used in four recent publications (O'Roak et al., 2011; Sanders et al., 2012; O'Roak et al., 2012, and Iossifov et al., 2012)
DNACopy, CGHCall
CoNIFER
None
krumm_15_ASD_discovery_controls
N/A
WES
CoNIFER, XHMM
Solid phase hybridization (Illumina 1M, 1 M Duo, or Omni 2.5)
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-caseSSC07305
N/A
M
ASD
Case from SSC_phase1 cohort
15329651
15330679
1029
GRCh38
Deletion
Yes
celestino-soper_11_ASD_discovery_cases-11461
NA
M
ASD
NA
NA
15107275
15107521
247
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case14362_4760
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
15683785
15718554
34770
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case14364_4780
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
15683785
15719773
35989
GRCh38
Duplication
No
girirajan_11_ASD_discovery_cases-Si125
10
M
Autism
ADOS score: 8. Vineland composite score: 89.
No mental retardation/intellectual disability. Full-scale IQ, 114; Verbal IQ, 117; Non-verbal IQ, 111.
14788832
15092218
303387
GRCh38
Deletion
No
jouret_22_DD/ID_discovery_cases-case3
14 yrs.
F
Developmental delay and intellectual disability
Developmental milestones: initial global developmental delay. Behavioral/psychiatric evaluation: hyperphagia. Growth parameters: microcephaly (<-2 SD).
Intellectual disability
15268999
15314892
45894
GRCh38
Deletion
Yes
jouret_22_DD/ID_discovery_cases-case4
Fetus
F
MCA
Fetus that was medically terminated at 38 weeks gestation. Motor and musculoskeletal evaluation: fusion of the posterior arches of the 6th-7th ribs. Brain imaging: paraventricular cysts, and hypoplasia of the corpus callosum . Dysmorphic features: arched and sparse eyebrows, short nose, anteverted nares, large ears, preauricular enchondroma. Growth parameters: intrauterine growth retardation, microcephaly (<-2 SD).
14432190
15573776
1141587
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001861
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
15227306
15496644
269339
GRCh38
Duplication
Yes
krumm_13_ASD_discovery_cases-case12106.p1
N/A
M
ASD
ASD proband from SSC quad family 12106. SRS score of 88.
Full-scale IQ (FSIQ) score of 112.
14031872
14042789
10918
GRCh38
Duplication
No (not tested)
krumm_13_ASD_discovery_cases-case13018.p1
N/A
M
ASD
ASD proband from SSC quad family 13018. SRS score of 76.
Full-scale IQ (FSIQ) score of 78.
14941488
15927339
985852
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_cases-case11216.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
14443469
14458377
14909
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_cases-case11325.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
14030709
14042789
12081
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_cases-case12083.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
14799173
15088133
288961
GRCh38
Deletion
Yes
krumm_15_ASD_discovery_cases-case13018.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
14941488
15927339
985852
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_cases-case13070.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
14039752
14042789
3038
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_cases-case13529.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
14039752
14042789
3038
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_cases-case13567.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
14039752
14042789
3038
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_cases-case13772.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
14028204
14042789
14586
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_cases-case13958.p1
N/A
Female
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Trio
14028204
14042789
14586
GRCh38
Duplication
Yes
levy_11_ASD_discovery_cases-11216.p1
NA
M
ASD
NA
NA
14429018
14459770
30753
GRCh38
Duplication
No
levy_11_ASD_discovery_cases-11239.p1
NA
F
ASD
NA
NA
15495293
15595161
99869
GRCh38
Deletion
No
levy_11_ASD_discovery_cases-12083.p1
NA
M
ASD
NA
NA
14852966
15098267
245302
GRCh38
Deletion
No
maini_18_ASD/DD/ID_discovery_cases-case_unknown78
N/A
N/A
NDD/MCA/dysmorphic features
CNV was identified in an individual with one or more neurodevelopmental disorders (NDD), multiple congenital anomalies (MCA), and/or dysmorphic features (detailed clinical information was not available). CNV classified as variant of unknown significance-likely benign (VOUS-LB)
15013776
15380987
367212
GRCh38
Duplication
No
nava_13_ASD_discovery_cases-Fam734Proband8225
N/A
M
ASD
Additional clinical profile info N/A
ID
15669207
15718554
49348
GRCh38
Duplication
No
nebel_15_ASD/ID_discovery_cases-caseTg64.001
16 yrs.
M
Autism, intellectual disability, and macrocephaly
Presented with autism, developmental delay, and macrocephaly (head circumference of 62.2 cm, SD +4) at age of 3.5 years. Birth/neonatal history: born after unremarkable pregnancy; supraventricular tachycardia observed at birth (later resolved). Brain imaging: MRI at 15 years old revealed maldevelopment of posterior cerebral white matter; CT head scan revealed optic atrophy. Family history: healthy non-consanguineous parents of African and European descent, father with speech delay as a child, mother with macrocephaly (head circumference of 62.0 cm, SD +4.1) and special education as a child; two siblings with no reported cognitive impairments, one sibling (Tg64.002) with macrocephaly (head circumference of 58.4 cm, SD + 2.4).
Diagnosed with intellectual disability at age of 11 years
14941170
15698941
757772
GRCh38
Duplication
Yes
nebel_15_DD/ID_discovery_cases-case10
N/A
M
Intellectual disability and macrocephaly
DECIPHER ID 249428. Macrocephaly
Intellectual disability
14939188
15919190
980003
GRCh38
Duplication
N/A
nebel_15_DD/ID_discovery_cases-case11
N/A
M
Macrocephaly
Case originally described in Sanders et al., 2011. Macrocephaly
N/A
14939188
15779190
840003
GRCh38
Duplication
N/A
nebel_15_DD/ID_discovery_cases-case12
N/A
M
Intellectual disability
DECIPHER ID 265764. Normal head circumference
Intellectual disability
14939188
16129190
1190003
GRCh38
Deletion
N/A
nebel_15_DD/ID_discovery_cases-case16
N/A
F
Developmental delay
Case originally described in Kosaki et al., 2011. Head circumference 10th %ile.
Mild developmental delay
15329189
16089190
760002
GRCh38
Deletion
N/A
nebel_15_DD/ID_discovery_cases-case7
N/A
M
Intellectual disability
Case originally described in Bonaglia et al., 2010. Head circumference in 5th-10th %ile.
Intellectual disability
14159188
16079190
1920003
GRCh38
Deletion
N/A
nebel_15_DD/ID_discovery_cases-case8
N/A
M
Intellectual disability and microcephaly
DECIPHER ID 255743. Microcephaly at birth
Intellectual disability
14269188
15379189
1110002
GRCh38
Deletion
N/A
nebel_15_DD/ID_discovery_cases-case9
N/A
F
Microcephaly
DECIPHER ID 249355. Microcephaly
N/A
14549188
15549189
1000002
GRCh38
Deletion
N/A
poultney_13_ASD_discovery_cases-caseHI2387
N/A
M
ASD
ASD case from AGRE (AGRE ID AU0906303; NDAR ID NDAR_INVVY103TJN)
14028203
14042791
14589
GRCh38
Duplication
No
prasad_12_ASD_discovery_cases-case52217
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
13864502
13867928
3427
Unknown
Deletion
No
prasad_12_ASD_discovery_cases-caseL384
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
15460030
15484867
24838
Unknown
Duplication
No
sajan_13_ACC/CBLH/PMG_discovery_cases-caseLR07-236
N/A
N/A
PMG
Diagnosis of polymicrogyria (PMG).
15670436
15702657
32222
GRCh38
Duplication
No
sanchis_juan_23_ASD/DD/ID_discovery_cases-caseG012185
NA
M
Developmental delay
Patient was of South Asian ancestry and presented with movement disorder and developmental delay.
13912729
13922079
9351
GRCh38
Homozygous deletion
No
sanders_11_ASD_discovery_cases-11216.p1
4.7
M
ASD
NA
Full-scale IQ, 77; non-verbal IQ, 97; verbal IQ, 57
14427808
14459891
32084
GRCh38
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
15495417
15595477
100061
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11325.p1
15.6
M
Autism
NA
Full-scale IQ, 39; non-verbal IQ, 48; verbal IQ, 21
14017983
14042481
24499
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11349.p1
7
M
Autism
NA
Full-scale IQ, 66; non-verbal IQ, 80; verbal IQ, 50
15886612
15909566
22955
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12083.p1
7.9
M
Autism
NA
Full-scale IQ, 114; non-verbal IQ, 111; verbal IQ, 117
14853868
15098232
244365
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12106.p1
9.3
M
Autism
NA
Full-scale IQ, 112; non-verbal IQ, 110; verbal IQ, 113
14019403
14042481
23079
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12310.p1
9.5
M
Autism
NA
Full-scale IQ, 59; non-verbal IQ, 71; verbal IQ, 35
14019403
14042481
23079
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-13018.p1
12.8
M
Autism
NA
Full-scale IQ, 78; non-verbal IQ, 82; verbal IQ, 75
14938905
15775755
836851
GRCh38
Duplication
Yes
yin_16_ASD_discovery_cases-case543
N/A
N/A
ASD
Cases diagnosed with autistic disorder according to DSM-IV and confirmed by using the Chinese version of ADI-R.
15565939
15619290
53352
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-controlSSC07323
N/A
M
Control
Control from SSC_phase1 cohort
15329651
15330679
1029
GRCh38
Deletion
Yes
engchuan_15_ASD_discovery_controls-controlB356202_1007844561
N/A
N/A
Control
No previous psychiatric history
15659608
15990108
330501
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlB951657_1007843871
N/A
N/A
Control
No previous psychiatric history
14541466
14590281
48816
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlHABC_900758_900758
N/A
N/A
Control
No previous psychiatric history
13866137
13951070
84934
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlHABC_902493_902493
N/A
N/A
Control
No previous psychiatric history
15668643
15719773
51131
GRCh38
Duplication
No
kanduri_15_ASD_discovery_controls-control_split2014
N/A
N/A
Control
Control screened for DSM-IV mental disorders using the Composite International Diagnostic Interview and psychotic disorders using the research version of the Structured Clinical Interview for DSM-IV
14793465
14833064
39600
Unknown
Duplication
No
krumm_13_ASD_discovery_controls-control13487.s1
N/A
F
Control
Unaffected sibling from SSC quad family 13487. SRS score of 38.
14042452
14042789
338
GRCh38
Deletion
No (not tested)
krumm_13_ASD_discovery_controls-control13512.s1
N/A
F
Control
Unaffected sibling from SSC quad family 13512. SRS score of 38.
14032385
14042789
10405
GRCh38
Duplication
No (not tested)
krumm_15_ASD_discovery_controls-control11809.s1
N/A
Female
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
13980572
13983280
2709
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_controls-control12083.s1
N/A
Female
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
14880425
15088133
207709
GRCh38
Deletion
Yes
krumm_15_ASD_discovery_controls-control13512.s1
N/A
Female
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
14039752
14042789
3038
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_controls-control13567.s1
N/A
Male
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
14039752
14042789
3038
GRCh38
Duplication
Yes
levy_11_ASD_discovery_controls-12083.s1
NA
F
Control
NA
NA
14852966
15098267
245302
GRCh38
Deletion
No
poultney_13_ASD_discovery_controls-control05C39968A
N/A
M
Control
NIMH Control (NIMH ID 51278)
14028203
14042791
14589
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11349.s1
8.6
M
Control (matched sibling)
NA
NA
15886612
15912654
26043
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-12083.s1
5.5
F
Control (matched sibling)
NA
NA
14853868
15098232
244365
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12638.s1
17.8
F
Control (matched sibling)
NA
NA
14805759
14810881
5123
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-caseSSC07305
PCR or SNP data validation
Paternal
BRD4
celestino-soper_11_ASD_discovery_cases-11461
Unknown
Simplex
NA
SYDE1
engchuan_15_ASD_discovery_cases-case14362_4760
Unknown
CYP4F12
engchuan_15_ASD_discovery_cases-case14364_4780
Unknown
CYP4F12
girirajan_11_ASD_discovery_cases-Si125
Maternal
Simplex
OR7A8P,OR7A2P,OR7A17,OR7A18P,OR7A3P,OR7A11P,OR7A15P,CCDC105,OR7A5,OR7A10,OR7A1P,SLC1A6,CASP14,OR1I1,OR7C1,OR7C2
jouret_22_DD/ID_discovery_cases-case3
qPCR, FISH
De novo
BRD4
jouret_22_DD/ID_discovery_cases-case4
qPCR, FISH
De novo
OR7A8P,OR7A15P,AKAP8L,OR7A3P,OR7A17,OR7C1,OR7A5,OR7C2,OR7A11P,ADGRE2,WIZ,RASAL3,EPHX3,ZNF333,OR7A18P,SYDE1,ADGRE3,PGLYRP2,OR1I1,CYP4F22,CCDC105,DNAJB1,CLEC17A,OR7A10,OR7A2P,OR7A1P,OR10B1P,MIR639,SNRPGP15,NOTCH3,NDUFB7,MIR1470,ITGB1P1,CYP4F23P,PKN1,PTGER1,MIR6795,SLC1A6,RN7SL842P,RN7SL337P,RNU6-782P,ILVBL-AS1,TECR,ILVBL,GIPC1,AKAP8,CASP14,BRD4
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001861
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Maternal
Unknown
Unknown
EPHX3,MIR1470,RASAL3,BRD4,AKAP8,AKAP8L,WIZ,PGLYRP2
krumm_13_ASD_discovery_cases-case12106.p1
Paternal
Simplex
Segregated
IL27RA
krumm_13_ASD_discovery_cases-case13018.p1
Solid phase hybridization (Illumina 1M) or aCGH (Agilent SurePrint G3 4x180K)
De novo
Simplex
Segregated
CCDC105,SYDE1,OR10B1P,RNU6-782P,MIR6795,EPHX3,MIR1470,RASAL3,RPL23AP2,CYP4F10P,OR10H3,ZNF861P,LINC01764,UCA1,CYP4F36P,SLC1A6,CASP14,OR1I1,ILVBL,NOTCH3,BRD4,AKAP8,AKAP8L,WIZ,PGLYRP2,CYP4F22,CYP4F23P,CYP4F8,CYP4F3,CYP4F12,CYP4F24P,OR10H5,OR10H1,CYP4F2,CYP4F11,OR7C2,LINC01835,OR10H2
krumm_15_ASD_discovery_cases-case11216.p1
Illumina 1M
Maternal
Simplex
Segregated
PKN1
krumm_15_ASD_discovery_cases-case11325.p1
Illumina 1M
Maternal
Simplex
Segregated
RLN3,IL27RA
krumm_15_ASD_discovery_cases-case12083.p1
Illumina 1MDuo
Maternal
Simplex
Not segregated (CNV in unaffected sibling)
OR7A8P,OR7A2P,OR7A17,OR7A18P,OR7A3P,OR7A11P,OR7A15P,CCDC105,OR7A5,OR7A10,OR7A1P,SLC1A6,CASP14,OR1I1,OR7C1,OR7C2
krumm_15_ASD_discovery_cases-case13018.p1
Illumina 1MDuo
Paternal
Simplex
Segregated
CCDC105,SYDE1,OR10B1P,RNU6-782P,MIR6795,EPHX3,MIR1470,RASAL3,RPL23AP2,CYP4F10P,OR10H3,ZNF861P,LINC01764,UCA1,CYP4F36P,SLC1A6,CASP14,OR1I1,ILVBL,NOTCH3,BRD4,AKAP8,AKAP8L,WIZ,PGLYRP2,CYP4F22,CYP4F23P,CYP4F8,CYP4F3,CYP4F12,CYP4F24P,OR10H5,OR10H1,CYP4F2,CYP4F11,OR7C2,LINC01835,OR10H2
krumm_15_ASD_discovery_cases-case13070.p1
Illumina 1MDuo
Paternal
Simplex
Segregated
IL27RA
krumm_15_ASD_discovery_cases-case13529.p1
1M-Duov3
Paternal
Simplex
Segregated
IL27RA
krumm_15_ASD_discovery_cases-case13567.p1
1M-Duov3
Maternal
Simplex
Not segregated (CNV in unaffected sibling)
IL27RA
krumm_15_ASD_discovery_cases-case13772.p1
Omni2.5-4v1
Maternal
Simplex
Segregated
RLN3,IL27RA
krumm_15_ASD_discovery_cases-case13958.p1
Omni2.5-4v1
Paternal
Simplex
Segregated
RLN3,IL27RA
levy_11_ASD_discovery_cases-11216.p1
Maternal
Simplex
Segregated
PKN1
levy_11_ASD_discovery_cases-11239.p1
Paternal
Simplex
Segregated
PGLYRP2,CYP4F22,CYP4F23P
levy_11_ASD_discovery_cases-12083.p1
Maternal
Simplex
Not segregated
OR7A2P,OR7A17,OR7A18P,OR7A3P,OR7A11P,OR7A15P,CCDC105,OR7A1P,SLC1A6,CASP14,OR1I1,OR7C2
maini_18_ASD/DD/ID_discovery_cases-case_unknown78
De novo
Unknown
Unknown
CCDC105,SYDE1,OR10B1P,RNU6-782P,MIR6795,EPHX3,SLC1A6,CASP14,OR1I1,ILVBL,NOTCH3,BRD4,AKAP8,AKAP8L
nava_13_ASD_discovery_cases-Fam734Proband8225
Unknown
Simplex
Unknown
CYP4F10P,CYP4F12
nebel_15_ASD/ID_discovery_cases-caseTg64.001
FISH, Array SNP (Affy 6.0)
Maternal (macrocephaly phenotype)
Maternal
Multi-generational (macrocephaly phenotype)
CNV segregates with macrocephaly; incomplete segregation with ASD/ID phenotype
CCDC105,SYDE1,OR10B1P,RNU6-782P,MIR6795,EPHX3,MIR1470,RASAL3,RPL23AP2,CYP4F10P,SLC1A6,CASP14,OR1I1,ILVBL,NOTCH3,BRD4,AKAP8,AKAP8L,WIZ,PGLYRP2,CYP4F22,CYP4F23P,CYP4F8,CYP4F3,CYP4F12,OR7C2
nebel_15_DD/ID_discovery_cases-case10
CNV validation N/A
Inherited (paternal origin unknown)
CCDC105,SYDE1,OR10B1P,RNU6-782P,MIR6795,EPHX3,MIR1470,RASAL3,RPL23AP2,CYP4F10P,OR10H3,ZNF861P,LINC01764,UCA1,CYP4F36P,SLC1A6,CASP14,OR1I1,ILVBL,NOTCH3,BRD4,AKAP8,AKAP8L,WIZ,PGLYRP2,CYP4F22,CYP4F23P,CYP4F8,CYP4F3,CYP4F12,CYP4F24P,OR10H5,OR10H1,CYP4F2,CYP4F11,OR7C2,LINC01835,OR10H2
nebel_15_DD/ID_discovery_cases-case11
CNV validation N/A
De novo
CCDC105,SYDE1,OR10B1P,RNU6-782P,MIR6795,EPHX3,MIR1470,RASAL3,RPL23AP2,CYP4F10P,OR10H3,SLC1A6,CASP14,OR1I1,ILVBL,NOTCH3,BRD4,AKAP8,AKAP8L,WIZ,PGLYRP2,CYP4F22,CYP4F23P,CYP4F8,CYP4F3,CYP4F12,CYP4F24P,OR7C2,OR10H2
nebel_15_DD/ID_discovery_cases-case12
CNV validation N/A
De novo
CCDC105,SYDE1,OR10B1P,RNU6-782P,MIR6795,EPHX3,MIR1470,RASAL3,RPL23AP2,CYP4F10P,OR10H3,ZNF861P,LINC01764,UCA1,CYP4F36P,OR10H4,SNX33P1,OR1AB1P,LINC01855,SLC1A6,CASP14,OR1I1,ILVBL,NOTCH3,BRD4,AKAP8,AKAP8L,WIZ,PGLYRP2,CYP4F22,CYP4F23P,CYP4F8,CYP4F3,CYP4F12,CYP4F24P,OR10H5,OR10H1,CYP4F2,CYP4F11,LINC00661,LINC00905,TPM4,OR7C2,LINC01835,CYP4F9P,RAB8A,OR10H2
nebel_15_DD/ID_discovery_cases-case16
CNV validation N/A
De novo
MIR1470,RASAL3,RPL23AP2,CYP4F10P,OR10H3,ZNF861P,LINC01764,UCA1,CYP4F36P,OR10H4,SNX33P1,OR1AB1P,LINC01855,BRD4,AKAP8,AKAP8L,WIZ,PGLYRP2,CYP4F22,CYP4F23P,CYP4F8,CYP4F3,CYP4F12,CYP4F24P,OR10H5,OR10H1,CYP4F2,CYP4F11,LINC00661,LINC00905,TPM4,LINC01835,CYP4F9P,OR10H2
nebel_15_DD/ID_discovery_cases-case7
CNV validation N/A
Maternal
RN7SL231P,PTGER1,SNRPGP15,MIR639,NDUFB7,RN7SL337P,RN7SL842P,OR7A8P,OR7A2P,OR7A17,OR7A18P,OR7A3P,OR7A11P,OR7A15P,CCDC105,SYDE1,OR10B1P,RNU6-782P,MIR6795,EPHX3,MIR1470,RASAL3,RPL23AP2,CYP4F10P,OR10H3,ZNF861P,LINC01764,UCA1,CYP4F36P,OR10H4,SNX33P1,OR1AB1P,LINC01855,LINC01841,LINC01842,ADGRE5,PKN1,GIPC1,DNAJB1,CLEC17A,ZNF333,ADGRE2,OR7A5,OR7A10,OR7A1P,SLC1A6,CASP14,OR1I1,ILVBL,NOTCH3,BRD4,AKAP8,AKAP8L,WIZ,PGLYRP2,CYP4F22,CYP4F23P,CYP4F8,CYP4F3,CYP4F12,CYP4F24P,OR10H5,OR10H1,CYP4F2,CYP4F11,LINC00661,LINC00905,TPM4,ADGRL1,DDX39A,TECR,OR7C1,OR7C2,LINC01835,CYP4F9P,ADGRE3,OR10H2
nebel_15_DD/ID_discovery_cases-case8
CNV validation N/A
De novo
PTGER1,SNRPGP15,MIR639,NDUFB7,RN7SL337P,RN7SL842P,OR7A8P,OR7A2P,OR7A17,OR7A18P,OR7A3P,OR7A11P,OR7A15P,CCDC105,SYDE1,OR10B1P,RNU6-782P,MIR6795,EPHX3,LINC01841,LINC01842,ADGRE5,PKN1,GIPC1,DNAJB1,CLEC17A,ZNF333,ADGRE2,OR7A5,OR7A10,OR7A1P,SLC1A6,CASP14,OR1I1,ILVBL,NOTCH3,BRD4,AKAP8,DDX39A,TECR,OR7C1,OR7C2,ADGRE3
nebel_15_DD/ID_discovery_cases-case9
CNV validation N/A
Unknown
NDUFB7,RN7SL337P,RN7SL842P,OR7A8P,OR7A2P,OR7A17,OR7A18P,OR7A3P,OR7A11P,OR7A15P,CCDC105,SYDE1,OR10B1P,RNU6-782P,MIR6795,EPHX3,MIR1470,RASAL3,CLEC17A,ZNF333,ADGRE2,OR7A5,OR7A10,OR7A1P,SLC1A6,CASP14,OR1I1,ILVBL,NOTCH3,BRD4,AKAP8,AKAP8L,WIZ,PGLYRP2,CYP4F22,TECR,OR7C1,OR7C2,ADGRE3
poultney_13_ASD_discovery_cases-caseHI2387
Unknown
Unknown (likely multiplex/AGRE)
Unknown
RLN3,IL27RA
prasad_12_ASD_discovery_cases-case52217
Unknown
Unknown
Unknown
C19orf57
prasad_12_ASD_discovery_cases-caseL384
Unknown
Unknown
Unknown
CYP4F22
sajan_13_ACC/CBLH/PMG_discovery_cases-caseLR07-236
Not tested by qPCR
Unknown
Unknown
Unknown
CYP4F12
sanchis_juan_23_ASD/DD/ID_discovery_cases-caseG012185
Both parents
Simplex
CC2D1A
sanders_11_ASD_discovery_cases-11216.p1
Maternal
Simplex (quad-proband matched)
Segregated
PKN1
sanders_11_ASD_discovery_cases-11239.p1
Paternal
Simplex (quad-proband matched)
Segregated
PGLYRP2,CYP4F22,CYP4F23P
sanders_11_ASD_discovery_cases-11325.p1
Maternal
Simplex (quad-proband matched)
Not segregated
RLN3,IL27RA
sanders_11_ASD_discovery_cases-11349.p1
Paternal
Simplex (quad-proband matched)
Not segregated
CYP4F2
sanders_11_ASD_discovery_cases-12083.p1
Maternal
Simplex (quad-proband matched)
Not segregated
OR7A2P,OR7A17,OR7A18P,OR7A3P,OR7A11P,OR7A15P,CCDC105,OR7A1P,SLC1A6,CASP14,OR1I1,OR7C2
sanders_11_ASD_discovery_cases-12106.p1
Paternal
Simplex (quad-proband matched)
Not segregated
RLN3,IL27RA
sanders_11_ASD_discovery_cases-12310.p1
Maternal
Simplex (trio)
NA
RLN3,IL27RA
sanders_11_ASD_discovery_cases-13018.p1
qPCR
De Novo
Simplex (quad-proband matched)
Segregated
CCDC105,SYDE1,OR10B1P,RNU6-782P,MIR6795,EPHX3,MIR1470,RASAL3,RPL23AP2,CYP4F10P,OR10H3,SLC1A6,CASP14,OR1I1,ILVBL,NOTCH3,BRD4,AKAP8,AKAP8L,WIZ,PGLYRP2,CYP4F22,CYP4F23P,CYP4F8,CYP4F3,CYP4F12,CYP4F24P,OR7C2,OR10H2
yin_16_ASD_discovery_cases-case543
Unknown
Unknown
Unknown
RPL23AP2,CYP4F23P,CYP4F8
Controls
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
brandler_18_ASD_discovery_controls-controlSSC07323
PCR or SNP data validation
Paternal
BRD4
engchuan_15_ASD_discovery_controls-controlB356202_1007844561
Unknown
CYP4F10P,OR10H3,ZNF861P,LINC01764,UCA1,CYP4F36P,OR10H4,CYP4F3,CYP4F12,CYP4F24P,OR10H5,OR10H1,CYP4F2,CYP4F11,LINC01835,CYP4F9P,OR10H2
engchuan_15_ASD_discovery_controls-controlB951657_1007843871
Unknown
NDUFB7,RN7SL337P,RN7SL842P,CLEC17A,TECR
engchuan_15_ASD_discovery_controls-controlHABC_900758_900758
Unknown
MIR181C,MIR181D,NANOS3,CC2D1A,PODNL1,C19orf57
engchuan_15_ASD_discovery_controls-controlHABC_902493_902493
Unknown
CYP4F10P,CYP4F12
kanduri_15_ASD_discovery_controls-control_split2014
Unknown
ZNF333
krumm_13_ASD_discovery_controls-control13487.s1
Maternal
Simplex
IL27RA
krumm_13_ASD_discovery_controls-control13512.s1
Paternal
Simplex
IL27RA
krumm_15_ASD_discovery_controls-control11809.s1
Illumina 1MDuo
De novo
RFX1
krumm_15_ASD_discovery_controls-control12083.s1
Illumina 1MDuo
Maternal
OR7A17,OR7A18P,OR7A3P,OR7A11P,OR7A15P,CCDC105,OR7A1P,SLC1A6,CASP14,OR1I1,OR7C2
krumm_15_ASD_discovery_controls-control13512.s1
1M-Duov3
Paternal
IL27RA
krumm_15_ASD_discovery_controls-control13567.s1
1M-Duov3
Maternal
IL27RA
levy_11_ASD_discovery_controls-12083.s1
Maternal
Simplex
NA
OR7A2P,OR7A17,OR7A18P,OR7A3P,OR7A11P,OR7A15P,CCDC105,OR7A1P,SLC1A6,CASP14,OR1I1,OR7C2
poultney_13_ASD_discovery_controls-control05C39968A
Unknown
RLN3,IL27RA
sanders_11_ASD_discovery_controls-11349.s1
Paternal
Simplex (quad)
NA
CYP4F2,CYP4F11
sanders_11_ASD_discovery_controls-12083.s1
Maternal
Simplex (quad)
NA
OR7A2P,OR7A17,OR7A18P,OR7A3P,OR7A11P,OR7A15P,CCDC105,OR7A1P,SLC1A6,CASP14,OR1I1,OR7C2
sanders_11_ASD_discovery_controls-12638.s1
Maternal
Simplex (quad)
NA
OR7C1
No Animal Model Data Available