1p36.32CNV Type: Deletion-Duplication
Largest CNV size: 520213 bp
Statistics Box:
Number of Reports: 15
Number of Reports: 15
Summary Information
Summary statement in development
Additional Locus Information
References
Major Reports
Title
Author, Year
Report Class
CNV Type
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
Paternally inherited cis-regulatory structural variants are associated with autism.
Duplication
Minor Reports
Title
Author, Year
Report Class
CNV Type
Rare structural variation of synapse and neurotransmission genes in autism.
Deletion
Multiple recurrent de novo CNVs, including duplications of the 7q11.23 Williams syndrome region, are strongly associated with autism.
Deletion-Duplication
Molecular karyotyping by array CGH in a Russian cohort of children with intellectual disability, autism, epilepsy and congenital anomalies.
Deletion
A discovery resource of rare copy number variations in individuals with autism spectrum disorder.
Duplication
Transmission disequilibrium of small CNVs in simplex autism.
Deletion-Duplication
Both rare and de novo copy number variants are prevalent in agenesis of the corpus callosum but not in cerebellar hypoplasia or polymicrogyria.
Deletion-Duplication
Performance of case-control rare copy number variation annotation in classification of autism.
Deletion-Duplication
Chromosomal microarray analysis in clinical evaluation of neurodevelopmental disorders-reporting a novel deletion of SETDB1 and illustration of cou...
Deletion
De Novo Mutations of CCNK Cause a Syndromic Neurodevelopmental Disorder with Distinctive Facial Dysmorphism.
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
1595150
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
520212
4
1
5
fan_18_DD/ID_discovery_cases
Individuals from unrelated families presenting with de novo 14q32.2 deletions affecting the CCNK gene
3
All three cases presented with severe to extremely severe developmental delay/intellectual disability (DD/ID) with profounds delays in language and social communication; two cases also presented with autistic behaviors
Range, 4-9 yrs.
33.33% Male
249768
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
56802
2
0
2
gai_11_ASD_replication_cases
Replication case samples derived from AGRE sets 1-3
593
Idiopathic autism; cases designated as 'spectrum' and 'not quite autism' excluded, as were cases with known genetic syndromes or other non-idiopathic causes
19395
1
0
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
708598
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
2084339
1
1
2
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
8863
2
1
3
krumm_15_ASD_discovery_cases
Probands from the Simons Simplex Collection
2377
Diagnosis of ASD
N/A
N/A
8863
2
0
2
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
474000
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
520213
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
40671
0
2
2
reinthaler_14_EP_discovery_cases
Epilepsy patients recruited as part of a multi-center effort from Austria, Germany, Australia, and Canada; 98 patients from multiplex families (at least two affected siblings)
281
Cases diagnosed with rolandic epilepsy according to International Classification of Seizures and Epilepsies; 230 cases with rolandic epilepsy, 51 cases with atypical rolandic epilepsy.
N/A
58.72% Male
514000
1
0
1
sajan_13_ACC/CBLH/PMG_discovery_cases
Individuals with severe congenital brain malformations [agenesis of the corpus callosum (ACC), cerebellar hypoplasia (CBLH), and/or polymicrogyria (PMG)] and additional neurodevelopmental phenotypes
487
Diagnosis of agenesis of the corpus callosum (ACC), cerebellar hypoplasia (CBLH), and/or polymicrogyria (PMG); additional diagnoses of autism spectrum disorder (ASD), developmental delay (DD), intellectual disability (ID) and/or seizures in some patients
N/A
N/A
184486
1
5
6
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
159165
6
7
13
xu_16_ASD/DD/ID_discovery_cases
Patients referred to the Duke Autism Genetics Clinic for clinical genetic evaluation of ASD and DD/ID from 2010-2014
115
66 cases with confirmed primary diagnosis of ASD (DSM-IV, DSM-5, ADOS, and ADI-R used to support ASD diagnosis), 49 cases with primary diagnosis of DD or ID (based on IQ and DQ scores).
Range, 18 months-15.1 years (mean age, 5.7 years)
72.17% Male
7700000
1
0
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
575077
1
4
5
girirajan_13b_ASD_discovery_controls
Controls ascertained from the Childhood Autism Risks from Genetics and Environment (CHARGE) study conducted through the Medical Investigation of Neurodevelopmental Disorders (MIND) Institute at UC-Davis after passing QC criteria (242 initial controls)
223
Control
N/A
N/A
975915
0
2
2
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
508004
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
0
0
0
0
krumm_15_ASD_discovery_controls
Unaffected siblings from quad families from the Simons Simplex Collection
1786
Control
N/A
N/A
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)
1322
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)
40671
0
0
0
reinthaler_14_EP_discovery_controls
Unscreened population controls
1512
Control
N/A
49.93% Male
514000
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.
10772
2
0
2
stamouli_18_ASD/NDD_discovery_controls
Unaffected individuals from 100 twin pairs (69 monozygotic, 31 dizygotic), corresponding to 97 families, that were enriched for neurodevelopmental disorders from the Roots of Autism and ADHD Study in Sweden (RATSS)
100 twin pairs
Control (unaffected) individual following evaluation using standard diagnostic tools [a psychosocial and anamnestic interview, the Autism Diagnosis Interview-Revised (ADI-R), the Autism Diagnostic Observation Schedule Second Edition (ADOS-2), the Kiddie Schedule for Affective Disorders and Schizophrenia (K-SADS), or the Diagnostic Interview for ADHD in Adults (DIVA)]; Wechsler Intelligence Scale for Children or Adults, Fourth Edition (WISC-IV) or the Leiter-revised scales in combination with the Peabody Picture Vocabulary Test, Third Edition, and the parent-based Adaptive Behavior Assessment Scale, 2nd Edition (ABAS-2) were also used to evaluate adaptive, cognitive, and verbal abilities and
N/A
N/A
14103
0
1
1
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
engchuan_15_ASD_discovery_cases
Caucasian
Solid phase hybridization
Illumina 1M
None
fan_18_DD/ID_discovery_cases
Chinese
Array SNP, solid phase hybridization
Affymetrix CytoScan HD, Illumina HumanCytoSNP-12
None
gai_11_ASD_discovery_cases
European
Solid phase hybridization
Illumina Infinium II HumanHap550 BeadChip
BeadStudio 3.0
None
gai_11_ASD_replication_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
None
kaminsky_11_DD/ID/ASD_discovery_cases
NA
aCGH
Agilent 44K, Agilent 105K
Feature Extraction, DNA Analytics
FISH, qPCR, MLPA, aCGH, standard G-banded chromosome analysis
krumm_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
None
krumm_15_ASD_discovery_cases
N/A
WES
CoNIFER, XHMM
Solid phase hybridization (Illumina 1M, 1 M Duo, or Omni 2.5)
maini_18_ASD/DD/ID_discovery_cases
Italian
aCGH, array SNP
Multiple platforms, including Agilent and Affymetrix arrays (8x60K oligochips since 2012)
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
reinthaler_14_EP_discovery_cases
Caucasian
Solid phase hybridization
Illumina HumanOmniExpress BeadChip
PennCNV
Illumina Genome Viewer
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
xu_16_ASD/DD/ID_discovery_cases
N/A
aCGH, array SNP
BlueGnome CytoChip v2, Affymetrix 6.0, Affymetrix Cytoscan HD
Affymeytrix Genotyping Console v3.0.2
None
Controls
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
engchuan_15_ASD_discovery_controls
Caucasian
Solid phase hybridization
Illumina 1M
None
girirajan_13b_ASD_discovery_controls
116 European, 70 Hispanic, 27 Mixed Race, 7 Asian, 3 African-American
aCGH
Roche NimbleGen custom targeted hotspot array comprised of 135,000 probes with higher density probe coverage in genomic hotspots (regions flanked by segmental duplications)
DNA Copy Number v1.6
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
None
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
reinthaler_14_EP_discovery_controls
German
Solid phase hybridization
Illumina HumanOmniExpress BeadChip
PennCNV
Illumina Genome Viewer
None
sanders_11_ASD_discovery_controls
Solid phase hybridization
Illumina 1M v1 or Illumina 1M v3
PennCNV, QuantiSNP, GNOSIS
stamouli_18_ASD/NDD_discovery_controls
Swedish
Solid phase hybridization
Illumina Infinium PsychArray-24 v1.1
PennCNV, QuantiSNP, iPattern, iPsychCNV
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-caseREACH000544
N/A
M
ASD
Case from REACH cohort
3253637
4705290
1451654
GRCh38
Duplication
Yes
engchuan_15_ASD_discovery_cases-case4233_1
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
5053851
5113744
59894
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case5526_3
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
2771617
3291811
520195
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case6188_3
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
5053851
5113744
59894
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case6364_3
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
4051127
4200358
149232
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case8452_201
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
3488732
3521101
32370
GRCh38
Deletion
No
fan_18_DD/ID_discovery_cases-subject1
4 yrs.
M
Developmental delay/intellectual disability and autistic features
Developmental milestones: moderately delayed gross motor skill development, severely delayed fine motor skill development, extremely severe delays in language development and social communication development, severe delays in adaptivity. Language and communication evaluation: absent speech (language ability equivalent to 6 months). Behavioral/psychiatric evaluation: autistic behaviors. Dysmorphic features: hypertelorism, thin eyebrows, dysmorphic ears, high anterior hairline, palpebral fissures, broad nasal bridge and tip, thick nasal alae, long philtrum, thin upper lip vermillion, narrow jaw. Growth parameters: height normal, weight 90th-97th %ile, head circumference +1 SD ~ +2 SD.
Severe intellectual disability
3337274
3587042
249769
GRCh38
Duplication
No
gai_11_ASD_discovery_cases-AU1448301
Autism
5013771
5070572
56802
Unknown
Deletion
No
gai_11_ASD_discovery_cases-AU1448303
Autism
5013771
5070572
56802
Unknown
Deletion
No
gai_11_ASD_replication_cases-AU004803
Autism
4880552
4899946
19395
Unknown
Deletion
No
iourov_12_ASD/ID/EP_discovery_cases-case31
2 yrs. 5 mos.
F
Intellectual disability
Speech delay, short stature, flat nasal bridge, muscle hypotonia, MRI abnormalities. Karyotype: 15phqh.
Intellectual disability
2436671
2591406
154736
GRCh38
Deletion
No
iourov_12_ASD/ID/EP_discovery_cases-case42
7 yrs.
F
Developmental delay
Speech delay, high-arched palate, single transverse palmar crease, small teeth. Karyotype: 15phqh+.
Cognitive delay
2436671
3160144
723474
GRCh38
Deletion
No
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001913
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
2683403
4729121
2045719
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002294
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
2659405
3273322
613918
GRCh38
Duplication
Yes
krumm_13_ASD_discovery_cases-case11336.p1
N/A
M
ASD
ASD proband from SSC quad family 11336. SRS score of 81.
Full-scale IQ (FSIQ) score of 123.
3507794
3515527
7734
GRCh38
Deletion
No (not tested)
krumm_13_ASD_discovery_cases-case11571.p1
N/A
M
ASD
ASD proband from SSC quad family 11571. SRS score of 90.
Full-scale IQ (FSIQ) score of 100.
2598206
2607069
8864
GRCh38
Deletion
No (not tested)
krumm_13_ASD_discovery_cases-case12383.p1
N/A
M
ASD
ASD proband from SSC quad family 12383. SRS score of 80.
Full-scale IQ (FSIQ) score of 101.
3496654
3500764
4111
GRCh38
Duplication
No (False Positive)
krumm_15_ASD_discovery_cases-case11336.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
3507794
3515527
7734
GRCh38
Deletion
Yes
krumm_15_ASD_discovery_cases-case11571.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
2598206
2607069
8864
GRCh38
Deletion
Yes
maini_18_ASD/DD/ID_discovery_cases-case_unknown92
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)
2806779
3281416
474638
GRCh38
Duplication
No
pinto_10_ASD_discovery_cases-case5526_3
NA
M
ASD
NA
NA
2771617
3291811
520195
GRCh38
Duplication
Yes
prasad_12_ASD_discovery_cases-case69180
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
5026901
5067571
40671
Unknown
Duplication
No
prasad_12_ASD_discovery_cases-case93736
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
3808733
3822753
14021
Unknown
Duplication
No
reinthaler_14_EP_discovery_cases-caseGGRE01
N/A
M
Epilepsy
Epilepsy phenotype: rolandic epilepsy.
4469484
4983674
514191
GRCh38
Deletion
No
sajan_13_ACC/CBLH/PMG_discovery_cases-case1586-0
N/A
N/A
ACC-CBLH
Diagnosis of agenesis of the corpus callosum (ACC) and cerebellar hypoplasia (CBLH). ASD: no. Seizures: yes.
Developmental delay: yes. Intellectual disability: unknown.
2428542
2554047
125506
GRCh38
Duplication
No
sajan_13_ACC/CBLH/PMG_discovery_cases-case1599-0
N/A
N/A
ACC-CBLH
Diagnosis of agenesis of the corpus callosum (ACC) and cerebellar hypoplasia (CBLH). ASD: no. Seizures: no.
Developmental delay: yes. Intellectual disability: unknown.
3411794
3497433
85640
GRCh38
Duplication
No
sajan_13_ACC/CBLH/PMG_discovery_cases-case1641-0
N/A
N/A
PMG
Diagnosis of polymicrogyria (PMG).
2428542
2496273
67732
GRCh38
Duplication
No
sajan_13_ACC/CBLH/PMG_discovery_cases-caseLR00-120
N/A
N/A
CBLH-PMG
Diagnosis of cerebellar hypoplasia (CBLH) and polymicrogyria (PMG).
3451579
3540307
88729
GRCh38
Deletion
No
sajan_13_ACC/CBLH/PMG_discovery_cases-caseLR02-147
N/A
N/A
PMG
Diagnosis of polymicrogyria (PMG).
3008102
3192587
184486
GRCh38
Duplication
No
sajan_13_ACC/CBLH/PMG_discovery_cases-caseLR02-147
N/A
N/A
PMG
Diagnosis of polymicrogyria (PMG).
3324571
3419636
95066
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11049.p1
7.6
M
Autism
NA
Full-scale IQ, 129; non-verbal IQ, 134; verbal IQ, 107
2649107
2775309
126203
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11304.p1
5.8
M
Autism
NA
Full-scale IQ, 53; non-verbal IQ, 61; verbal IQ, 47
5243311
5302285
58975
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11336.p1
10.4
M
Autism
NA
Full-scale IQ, 123; non-verbal IQ, 124; verbal IQ, 114
3512044
3517546
5503
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11561.p1
5.9
M
Autism
NA
Full-scale IQ, 109; non-verbal IQ, 103; verbal IQ, 114
5057355
5113744
56390
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11571.p1
9.4
M
Autism
NA
Full-scale IQ, 100; non-verbal IQ, 94; verbal IQ, 111
2592766
2607961
15196
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11630.p1
10.6
M
Autism
NA
Full-scale IQ, 104; non-verbal IQ, 105; verbal IQ, 106
2653099
2775309
122211
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11824.p1
8.9
M
Autism
NA
Full-scale IQ, 81; non-verbal IQ, 89; verbal IQ, 72
4200358
4240746
40389
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12033.p1
10.8
M
Autism
NA
Full-scale IQ, 90; non-verbal IQ, 102; verbal IQ, 73
5104364
5263529
159166
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12118.p1
12.6
F
Autism
NA
Full-scale IQ, 82; non-verbal IQ, 74; verbal IQ, 102
2641760
2775309
133550
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12189.p1
8.8
M
Autism
NA
Full-scale IQ, 82; non-verbal IQ, 87; verbal IQ, 78
2653099
2701859
48761
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12275.p1
4.4
M
Autism
NA
Full-scale IQ, 111; non-verbal IQ, 111; verbal IQ, 107
2653099
2701859
48761
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12888.p1
5.5
M
Autism
NA
Full-scale IQ, 30; non-verbal IQ, 42; verbal IQ, 19
2653099
2701859
48761
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-13337.p1
5.1
M
Autism
NA
Full-scale IQ, 125; non-verbal IQ, 107; verbal IQ, 110
2653099
2694073
40975
GRCh38
Duplication
No
xu_16_ASD/DD/ID_discovery_cases-case2
N/A
N/A
Developmental delay
Primary diagnosis of developmental delay based on DQ scores.
4116046
11829411
7713366
GRCh38
Deletion
No
Controls
Patient ID
Author, Year
Age
Gender
Primary Diagnosis
Clinical Profile
Cognitive Profile
CNV Start
CNV End
CNV Size
Genome Build
Type Method
Validation
engchuan_15_ASD_discovery_controls-controlB216574_1007873989
N/A
N/A
Control
No previous psychiatric history
5053851
5113744
59894
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlB495388_1007875285
N/A
N/A
Control
No previous psychiatric history
2783827
3011857
228031
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlB988624_1007854912
N/A
N/A
Control
No previous psychiatric history
2701859
3291811
589953
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlHABC_900583_900583
N/A
N/A
Control
No previous psychiatric history
3822948
4288475
465528
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlHABC_902646_902646
N/A
N/A
Control
No previous psychiatric history
5053851
5113744
59894
GRCh38
Deletion
No
girirajan_13b_ASD_discovery_controls-41205103606
N/A
N/A
Control
Ethnicity: Caucasian
N/A
2876055
3851971
975917
GRCh38
Duplication
No
girirajan_13b_ASD_discovery_controls-63605104696
N/A
N/A
Control
Ethnicity: Caucasian
N/A
2379648
2684249
304602
GRCh38
Duplication
No
kanduri_15_ASD_discovery_controls-control_split198
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
2700372
3208375
508004
Unknown
Duplication
No
poultney_13_ASD_discovery_controls-control05C45035
N/A
M
Control
NIMH Control (NIMH ID 17924)
2594788
2596109
1322
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-12057.s1
14.3
F
Control (matched sibling)
NA
NA
2992606
3003378
10773
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12555.s1
18.9
F
Control (matched sibling)
NA
NA
5222666
5223963
1298
GRCh38
Deletion
No
stamouli_18_ASD/NDD_discovery_controls-family38_Twin_1
N/A
N/A
Control
Control is from a monozygotic twin pair from the Discordant NDD diagnostic subgroup
2494874
2508976
14103
GRCh38
Duplication
No
Cases
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
brandler_18_ASD_discovery_cases-caseREACH000544
SNP VCF
De novo
MIR551A,TPRG1L,SMIM1,RN7SL574P,EEF1DP6,ARHGEF16,WRAP73,TP73-AS1,CCDC27,LRRC47,CEP104,DFFB,C1orf174,LINC01134,LINC01346,LINC01345,LINC01777,MEGF6,TP73,LINC01646,AJAP1,PRDM16
engchuan_15_ASD_discovery_cases-case4233_1
Unknown
engchuan_15_ASD_discovery_cases-case5526_3
Unknown
ACTRT2,MIR4251,LINC00982,TTC34,PRDM16
engchuan_15_ASD_discovery_cases-case6188_3
Unknown
engchuan_15_ASD_discovery_cases-case6364_3
Unknown
EEF1DP6
engchuan_15_ASD_discovery_cases-case8452_201
Unknown
MEGF6
fan_18_DD/ID_discovery_cases-subject1
Unknown
Unknown
MIR551A,ARHGEF16,MEGF6,PRDM16
gai_11_ASD_discovery_cases-AU1448301
Inherited
0 genes
gai_11_ASD_discovery_cases-AU1448303
Inherited
0 genes
gai_11_ASD_replication_cases-AU004803
Inherited
0 genes
iourov_12_ASD/ID/EP_discovery_cases-case31
Unknown
Unknown
Unknown
HES5,PANK4,TNFRSF14-AS1,TNFRSF14,PRXL2B,PLCH2,MMEL1
iourov_12_ASD/ID/EP_discovery_cases-case42
Unknown
Unknown
Unknown
HES5,ACTRT2,MIR4251,PANK4,TNFRSF14-AS1,TNFRSF14,PRXL2B,LINC00982,PLCH2,MMEL1,TTC34,PRDM16
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001913
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
De novo
Unknown
Unknown
ACTRT2,MIR4251,MIR551A,TPRG1L,SMIM1,RN7SL574P,EEF1DP6,LINC00982,ARHGEF16,WRAP73,TP73-AS1,CCDC27,LRRC47,CEP104,DFFB,C1orf174,LINC01134,LINC01346,LINC01345,LINC01777,TTC34,MEGF6,TP73,LINC01646,AJAP1,PRDM16
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002294
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
ACTRT2,MIR4251,LINC00982,TTC34,PRDM16
krumm_13_ASD_discovery_cases-case11336.p1
Maternal
Simplex
Segregated
MEGF6
krumm_13_ASD_discovery_cases-case11571.p1
Maternal
Simplex
Segregated
MMEL1
krumm_13_ASD_discovery_cases-case12383.p1
Solid phase hybridization (Illumina 1M) and aCGH (Agilent SurePrint G3 4x180K)
Paternal
Simplex
Segregated
MEGF6
krumm_15_ASD_discovery_cases-case11336.p1
Illumina 1M
Maternal
Simplex
Segregated
MEGF6
krumm_15_ASD_discovery_cases-case11571.p1
Illumina 1MDuo
Maternal
Simplex
Segregated
MMEL1
maini_18_ASD/DD/ID_discovery_cases-case_unknown92
Paternal
Unknown
Unknown
ACTRT2,MIR4251,LINC00982,PRDM16
pinto_10_ASD_discovery_cases-case5526_3
Agilent1M
maternal
NA
NA
ACTRT2,MIR4251,LINC00982,TTC34,PRDM16
prasad_12_ASD_discovery_cases-case69180
Unknown
Multiplex
Unknown
0 genes
prasad_12_ASD_discovery_cases-case93736
Unknown
Unknown
Unknown
LOC100133612
reinthaler_14_EP_discovery_cases-caseGGRE01
Unknown
Unknown
Unknown
LINC01646,AJAP1
sajan_13_ACC/CBLH/PMG_discovery_cases-case1586-0
qPCR (CNV not detected)
Biparental/Diploid copy number
Unknown
Unknown
HES5,PANK4,TNFRSF14-AS1,PLCH2
sajan_13_ACC/CBLH/PMG_discovery_cases-case1599-0
qPCR (CNV not detected)
Bi-parental
Unknown
Unknown
ARHGEF16,MEGF6,PRDM16
sajan_13_ACC/CBLH/PMG_discovery_cases-case1641-0
qPCR (CNV not detected)
Bi-parental
Unknown
Unknown
PLCH2
sajan_13_ACC/CBLH/PMG_discovery_cases-caseLR00-120
Not tested by qPCR
Unknown
Unknown
Unknown
ARHGEF16,MEGF6
sajan_13_ACC/CBLH/PMG_discovery_cases-caseLR02-147
Not tested by qPCR
Unknown
Unknown
Unknown
ACTRT2,MIR4251,LINC00982,PRDM16
sajan_13_ACC/CBLH/PMG_discovery_cases-caseLR02-147
Not tested by qPCR
Unknown
Unknown
Unknown
PRDM16
sanders_11_ASD_discovery_cases-11049.p1
Paternal
Simplex (quad-proband matched)
Segregated
TTC34
sanders_11_ASD_discovery_cases-11304.p1
Maternal
Simplex (quad-proband matched)
Segregated
sanders_11_ASD_discovery_cases-11336.p1
Maternal
Simplex (quad-proband matched)
Segregated
MEGF6
sanders_11_ASD_discovery_cases-11561.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11571.p1
Maternal
Simplex (quad-proband matched)
Not segregated
MMEL1
sanders_11_ASD_discovery_cases-11630.p1
Paternal
Simplex (quad-proband matched)
Segregated
TTC34
sanders_11_ASD_discovery_cases-11824.p1
Paternal
Simplex (quad-proband unmatched)
Unknown
sanders_11_ASD_discovery_cases-12033.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12118.p1
Paternal
Simplex (quad-proband matched)
Not segregated
TTC34
sanders_11_ASD_discovery_cases-12189.p1
Paternal
Simplex (quad-proband matched)
Not segregated
TTC34
sanders_11_ASD_discovery_cases-12275.p1
Paternal
Simplex (quad-proband matched)
Not segregated
TTC34
sanders_11_ASD_discovery_cases-12888.p1
Maternal
Simplex (quad-proband matched)
Not segregated
TTC34
sanders_11_ASD_discovery_cases-13337.p1
Unknown
Simplex (trio)
NA
TTC34
xu_16_ASD/DD/ID_discovery_cases-case2
De novo
EEF1DP6,MIR4689,LINC00337,HES3,MIR4252,TNFRSF25,RNU6-731P,LINC01672,CAMTA1-DT,RNU1-8P,CAMTA1-IT1,VAMP3,RNU1-7P,RNU6-991P,RPL7P11,RPL7P7,RPL23AP19,MIR6728,ENO1-AS1,RNU6-304P,HMGN2P17,RN7SL451P,MIR34A,RNA5SP40,PIK3CD-AS1,MZT1P1,RN7SKP269,MIR5697,PGAM1P11,RNU6-828P,RNU6-37P,RN7SL731P,CORT,RN7SL614P,HSPE1P24,CFL1P6,TARDBP,MTOR-AS1,RNU6-537P,RNU6-291P,RPL39P6,UBE2V2P3,MTCYBP45,LINC01647,FBXO44,LINC01777,RPL22,RNF207,ICMT,GPR153,ESPN,PLEKHG5,TAS1R1,ZBTB48,KLHL21,PHF13,THAP3,PER3,UTS2,TNFRSF9,PARK7,ERRFI1,LINC01714,SLC45A1,ENO1,CA6,SLC2A7,GPR157,LNCTAM34A,H6PD,TMEM201,PIK3CD-AS2,CLSTN1,CTNNBIP1,LZIC,RBP7,PGD,CENPS-CORT,CENPS,DFFA,C1orf127,MASP2,SRM,EXOSC10,ANGPTL7,UBIAD1,FBXO2,MAD2L2,DRAXIN,AGTRAP,C1orf167,CLCN6,LINC01646,AJAP1,NPHP4,KCNAB2,CHD5,HES2,NOL9,DNAJC11,SLC2A5,MIR34AHG,SPSB1,SLC25A33,PIK3CD,NMNAT1,UBE4B,KIF1B,CASZ1,MTOR,FBXO6,MTHFR,ACOT7,CAMTA1,PEX14,DISP3,RERE
Controls
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
engchuan_15_ASD_discovery_controls-controlB216574_1007873989
Unknown
engchuan_15_ASD_discovery_controls-controlB495388_1007875285
Unknown
TTC34
engchuan_15_ASD_discovery_controls-controlB988624_1007854912
Unknown
ACTRT2,MIR4251,LINC00982,TTC34,PRDM16
engchuan_15_ASD_discovery_controls-controlHABC_900583_900583
Unknown
EEF1DP6,CEP104,DFFB,C1orf174,LINC01134,LINC01346,LINC01345
engchuan_15_ASD_discovery_controls-controlHABC_902646_902646
Unknown
girirajan_13b_ASD_discovery_controls-41205103606
Unknown
ACTRT2,MIR4251,MIR551A,TPRG1L,SMIM1,RN7SL574P,LINC00982,ARHGEF16,WRAP73,TP73-AS1,CCDC27,LRRC47,CEP104,MEGF6,TP73,PRDM16
girirajan_13b_ASD_discovery_controls-63605104696
Unknown
HES5,RER1,PEX10,PANK4,TNFRSF14-AS1,TNFRSF14,PRXL2B,MORN1,PLCH2,MMEL1,TTC34
kanduri_15_ASD_discovery_controls-control_split198
Unknown
ACTRT2,PRDM16,TTC34
poultney_13_ASD_discovery_controls-control05C45035
Unknown
MMEL1
sanders_11_ASD_discovery_controls-12057.s1
Unknown
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12555.s1
Maternal
Simplex (quad)
NA
stamouli_18_ASD/NDD_discovery_controls-family38_Twin_1
Unknown
Simplex
PANK4,PLCH2
No Animal Model Data Available