14q21.2CNV Type: Deletion-Duplication
Largest CNV size: 187741 bp
Statistics Box:
Number of Reports: 12
Number of Reports: 12
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.
Deletion
Functional impact of global rare copy number variation in autism spectrum disorders.
Deletion
An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabili...
Deletion
Clinically relevant single gene or intragenic deletions encompassing critical neurodevelopmental genes in patients with developmental delay, mental...
Deletion
Minor Reports
Title
Author, Year
Report Class
CNV Type
Non-syndromic language delay in a child with disruption in the Protocadherin11X/Y gene pair.
Deletion
Novel copy number variants in children with autism and additional developmental anomalies.
Deletion
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.
Deletion
Performance of case-control rare copy number variation annotation in classification of autism.
Deletion-Duplication
The landscape of copy number variations in Finnish families with autism spectrum disorders.
Deletion
Cases
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
cappuccio_19_ASD_discovery_cases
16-year-old male with a paternally-inherited 14q21.2 microdeletion that includes the chr14.232.a pseudogene
1
Case met criteria for autism as defined by ADOS and ADI-R; cognitive abilities assessed with WISC-III.
16 years
Male
291000
1
0
1
davis_09_ASD_discovery_cases
Autistic cases from Autism Genetic Research Exchange (AGRE)
36
ASD: diagnosis confirmed through ADI and in some cases ADOS-G. 17 cases with syndromic autism (autism and less than common craniofacial dysmorphology, limb or digit abnormality, or ocular abnormality), 19 cases selected at random with autism and no associated syndromic features
NA
NA
100909
1
0
1
digregorio_17_DD/ID_discovery_cases
Consecutive cases examined in the Medical Genetics Unit at the "Citta della Salte e della Scienza" University Hospital (Turin, Italy) from 2008 to 2014 (cases with CNVs are present in DECIPHER database)
1015
Cases diagnosed with idiopathic developmental delay and/or intellectual disability (DD/ID)
N/A
N/A
740000
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
425053
6
11
17
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
1020358
1
0
1
kanduri_15_ASD_discovery_cases
Autistic cases from an initial sample of 83 Finnish families comprising 257 family members following quality control
80
Diagnosis of ASD based on DSM-IV, 4th edition, or ICD-10 criteria; patients screened based on Childhood Autism Rating Scale (CARS), Asperger Syndrome Screening Questionnaire, and Asperger's Syndrome Diagnostic Interview.
N/A
N/A
249188
2
0
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
187741
1
0
1
mikhail_11_DD/ID_discovery_cases
Patients referred for clinical array CGH testing between January 2009 & December 2010 for various neurodevelopmental phenotypes (Univ. of Alabama-Birmingham)
1200
Developmental delay (DD), intellectual disability (ID), ASD, and/or multiple congenital anomalies
NA
NA
890000
1
0
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
112699
2
0
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
107602
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
170062
8
4
12
speevak_11_DD_discovery_cases
Patient referred to genetics clinic (Dept. of Genetics & Laboratory Medicine, Credit Valley Hospital, Ontario, Canada) for non-syndromic speech delay
1
Developmental delay (non-syndromic significant speech delay). Differential diagnosis of ASD ruled out by psychiatric assessment at 3.5 yrs., but no specific diagnosis suggested.
4.5 yrs.
Male
159700
1
0
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
13504
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
425142
7
14
21
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
336039
0
1
1
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
40053
2
0
2
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
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)
107602
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.
169380
9
3
12
Cases
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
cappuccio_19_ASD_discovery_cases
Italy
aCGH
Agilent SurePrint G3 4x180K
aCGH
davis_09_ASD_discovery_cases
NA
Array SNP
Affymetrix 250K Nsp, Affymetrix 250K Syt
HMM
CNAG v2.0
None
digregorio_17_DD/ID_discovery_cases
Italian
aCGH
Agilent 60K (SurePrint G3 Human CGH Microarray 8x60K)
ADM-2
Agilent CGH Analytics software ver. 4.0.81
qPCR
engchuan_15_ASD_discovery_cases
Caucasian
Solid phase hybridization
Illumina 1M
None
kaminsky_11_DD/ID/ASD_discovery_cases
NA
aCGH
Agilent 44K, Agilent 105K
Feature Extraction, DNA Analytics
FISH, qPCR, MLPA, aCGH, standard G-banded chromosome analysis
kanduri_15_ASD_discovery_cases
Finnish
Solid phase hybridization
Illumina Human OmniExpress-12v1.0 BeadChip
QuantiSNP, PennCNV
Illumina BeadStudio
None
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
mikhail_11_DD/ID_discovery_cases
NA
aCGH
Agilent 4 X 44K, Agilent 2 X 105K
Feature Extraction V9.5, DNA Analytics V4.0
FISH
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
speevak_11_DD_discovery_cases
NA
aCGH
CytoChip 105K array
BlueFuse Multi
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_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
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
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
cappuccio_19_ASD_discovery_cases-case1
16 yrs.
M
ASD
Case met criteria for autism as defined by ADOS and ADI-R. Brain imaging: normal brain MRI at 16 years. Birth/neonatal history: born by C-section after 37 weeks of gestation following an uneventful pregnancy; birth weight of 3000 g (50th %ile). Developmental milestones: able to sit without support at 10 months, walked independently at 23 months; delayed language and poor social interactions noted at 2 years of age. Additional medical history: no congenital anomalies; unremarkable ophthalmological evauation; normal cardiac and abdominal ultrasounds. Dysmorphic features: none. Growth parameters: weight 91.5 kg (99th %ile), height 168 cm (21st %ile), head circumference 56 cm (34th %ile), and BMI 32.4 kg/m2 (> 99th %ile, z-score = +2.8) at 16 years of age. Family history: first child of non-consanguineous parents; 52-year-old father with an IQ score of 78 (WAIS).
IQ score of 75 at 16 years of age (WISC-III); case has high-functioning memory skills
43076079
43367865
291787
GRCh38
Deletion
Yes
davis_09_ASD_discovery_cases-AU059004
NA
NA
Syndromic ASD
Diagnosis: autism. Syndromic autism features: syndactyly
43636337
43737246
100909
Unknown
Deletion
No
digregorio_17_DD/ID_discovery_cases-DECIPHER_283327
N/A
M
Developmental delay/intellectual disability
43412108
44153866
741759
GRCh38
Duplication
Yes
engchuan_15_ASD_discovery_cases-case1153_4
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
43358503
43778538
420036
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case13123_1403
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
43358503
43778538
420036
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case14020_400
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
41478625
41514395
35771
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case16048_1571101001
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
43358503
43778538
420036
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case20048_1265001
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
43357801
43778538
420738
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case20104_1474001
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
43357801
43778538
420738
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case2257_1
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
43354923
43779976
425054
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case3026_4
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
42502585
42615283
112699
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case3076_4
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
43367357
43781890
414534
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case4320_1
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
42502585
42649511
146927
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case4366_1
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
43358503
43778538
420036
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case4520_1
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
43358503
43781890
423388
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case5013_3
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
43606002
43696876
90875
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case5200_3
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
42354354
42442613
88260
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case5435_4
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
42502585
42615283
112699
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case6372_3
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
43358503
43778538
420036
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case8658_201
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
43357801
43778538
420738
GRCh38
Duplication
No
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004285
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
42218945
43239303
1020359
GRCh38
Deletion
Yes
kanduri_15_ASD_discovery_cases-case2923
N/A
N/A
ASD
Diagnosis of ASD based on DSM-IV, 4th edition, or ICD-10 criteria; patient screened based on Childhood Autism Rating Scale (CARS), Asperger Syndrome Screening Questionnaire, and/or Asperger's Syndrome Diagnostic Interview.
46309466
46558653
249188
Unknown
Deletion
No
kanduri_15_ASD_discovery_cases-case3046
N/A
N/A
ASD
Diagnosis of ASD based on DSM-IV, 4th edition, or ICD-10 criteria; patient screened based on Childhood Autism Rating Scale (CARS), Asperger Syndrome Screening Questionnaire, and/or Asperger's Syndrome Diagnostic Interview.
44507227
44524369
17143
Unknown
Deletion
No
marshall_08_ASD_discovery_cases-SK0305-004
NA
F
ASD
NA
NA
42483333
42671073
187741
GRCh38
Deletion
Yes
mikhail_11_DD/ID_discovery_cases-patient6
10 yrs.
F
Intellectual disability + developmental delay
Grand-mal seizures. Microcephaly. Dysmorphic features: receding forehead, upslanted palpebral fissures. Growth parameters: height, 136 cm (25-50th %ile); weight, 35.1 kg (50-75th %ile); head circumference, 48.2 cm (<2nd %ile). Karyotype: 47, XXX. Family history: deceased mother with history of developmental delay & seizures attributed to severe prematurity, brain hemorrhage, & hyperbilirubinemia.
Intellectual disability, developmental delay
41730082
42621067
890986
GRCh38
Deletion
Yes
pinto_10_ASD_discovery_cases-case5200_3
NA
M
Autism
Below average language (3%ile), no epilepsy, no dysmorphic features
Below average IQ (5%ile)
42354354
42442613
88260
GRCh38
Deletion
Yes
pinto_10_ASD_discovery_cases-case5435_4
NA
F
ASD
NA
NA
42502585
42615283
112699
GRCh38
Deletion
Yes
prasad_12_ASD_discovery_cases-case62345L
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
42741564
42801095
59532
Unknown
Deletion
No
prasad_12_ASD_discovery_cases-case78621
NA
F
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
42042344
42149945
107602
Unknown
Deletion
No
sanders_11_ASD_discovery_cases-11258.p1
14.8
M
Autism
NA
Full-scale IQ, 108; non-verbal IQ, 119; verbal IQ, 96
42502585
42624186
121602
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11289.p1
6
M
Autism
NA
Full-scale IQ, 82; non-verbal IQ, 98; verbal IQ, 62
43025335
43026079
745
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11336.p1
10.4
M
Autism
NA
Full-scale IQ, 123; non-verbal IQ, 124; verbal IQ, 114
43025335
43026079
745
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11476.p1
7.3
M
Autism
NA
Full-scale IQ, 113; non-verbal IQ, 119; verbal IQ, 99
42513498
42683560
170063
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11625.p1
11.6
M
Autism
NA
Full-scale IQ, 34; non-verbal IQ, 44; verbal IQ, 14
42400173
42496805
96633
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11773.p1
13.1
M
Autism
NA
Full-scale IQ, 43; non-verbal IQ, 50; verbal IQ, 28
42960531
42966492
5962
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11780.p1
4.3
M
Autism
NA
Full-scale IQ, 117; non-verbal IQ, 112; verbal IQ, 120
43025335
43026079
745
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
43025335
43026079
745
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12106.p1
9.3
M
Autism
NA
Full-scale IQ, 112; non-verbal IQ, 110; verbal IQ, 113
43404779
43427365
22587
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12187.p1
7.8
M
Autism
NA
Full-scale IQ, 109; non-verbal IQ, 110; verbal IQ, 105
42014991
42016958
1968
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12317.p1
6.8
M
Autism
NA
Full-scale IQ, 91; non-verbal IQ, 92; verbal IQ, 95
42368294
42369778
1485
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12481.p1
5.6
M
Autism
NA
Full-scale IQ, 42; non-verbal IQ, 47; verbal IQ, 37
42397020
42402683
5664
GRCh38
Deletion
No
speevak_11_DD_discovery_cases-case1
4.5 yrs.
M
Developmental delay/speech delay
Developmental milestones: significant speech delay (first words at 2 yrs.; at 4.5 yrs., patient was only able to use a few words in a sentence, which were not easily understood). Behavioral characteristics: aggressive behavior, autistic traits (spitting and rocking with excessive hand movements and solitary play noted at 3.5 yrs.; however, a differential diagnosis of ASD ruled out by psychiatric assessment at the time, but no specific diagnosis was suggested). Dysmorphic features: no major dysmorphic or congenitally abnormal features, other than mild 2-3 toe syndactyly. Growth parameters: height, 90th %ile; wieght, 50th %ile; head circumference, 10th %ile.
45994492
46154164
159673
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
brandler_18_ASD_discovery_controls-controlSSC03665
N/A
M
Control
Control from SSC cohort
44605226
44618730
13505
GRCh38
Deletion
Yes
engchuan_15_ASD_discovery_controls-control110036023109_
N/A
N/A
Control
No previous psychiatric history
43358503
43778538
420036
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-control110036023588_
N/A
N/A
Control
No previous psychiatric history
43358503
43778538
420036
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-control110036023596_
N/A
N/A
Control
No previous psychiatric history
43358503
43778538
420036
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlB357802_1007874407
N/A
N/A
Control
No previous psychiatric history
43358503
43779976
421474
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlB478115_1007842238
N/A
N/A
Control
No previous psychiatric history
43504887
43596021
91135
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlB512685_1007872550
N/A
N/A
Control
No previous psychiatric history
43606002
43696876
90875
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlB763377_1007853322
N/A
N/A
Control
No previous psychiatric history
43358503
43764431
405929
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlB769494_1007846090
N/A
N/A
Control
No previous psychiatric history
43586336
43649647
63312
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlB822754_0057061009
N/A
N/A
Control
No previous psychiatric history
43353396
43778538
425143
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlB904265_1007873471
N/A
N/A
Control
No previous psychiatric history
42502585
42617512
114928
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlHABC_900086_900086
N/A
N/A
Control
No previous psychiatric history
43357801
43781890
424090
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlHABC_900525_900525
N/A
N/A
Control
No previous psychiatric history
43358503
43778538
420036
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlHABC_900614_900614
N/A
N/A
Control
No previous psychiatric history
42213063
42250538
37476
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlHABC_900703_900703
N/A
N/A
Control
No previous psychiatric history
42502585
42641380
138796
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlHABC_902477_902477
N/A
N/A
Control
No previous psychiatric history
43357801
43778538
420738
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlHABC_902550_902550
N/A
N/A
Control
No previous psychiatric history
43606002
43696876
90875
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlHABC_902553_902553
N/A
N/A
Control
No previous psychiatric history
43606002
43696876
90875
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlHABC_902619_902619
N/A
N/A
Control
No previous psychiatric history
43357801
43778538
420738
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlHABC_902630_902630
N/A
N/A
Control
No previous psychiatric history
42863867
42934256
70390
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlHABC_902732_902732
N/A
N/A
Control
No previous psychiatric history
43357801
43778538
420738
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlHABC_903002_903002
N/A
N/A
Control
No previous psychiatric history
43357801
43778538
420738
GRCh38
Duplication
No
girirajan_13b_ASD_discovery_controls-30706106486
N/A
N/A
Control
Ethnicity: Caucasian
N/A
43414527
43750566
336040
GRCh38
Duplication
No
kanduri_15_ASD_discovery_controls-control_split1394
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
46024675
46064727
40053
Unknown
Deletion
No
kanduri_15_ASD_discovery_controls-control_split811
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
46024675
46064727
40053
Unknown
Deletion
No
sanders_11_ASD_discovery_controls-11067.s1
16.7
F
Control (matched sibling)
NA
NA
43025335
43026079
745
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11101.s1
6.7
F
Control (matched sibling)
NA
NA
42316195
42454585
138391
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11258.s1
10.8
F
Control (matched sibling)
NA
NA
42502585
42649511
146927
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11350.s1
6.1
M
Control (matched sibling)
NA
NA
43021729
43026079
4351
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11476.s1
10.8
F
Control (matched sibling)
NA
NA
42508612
42677992
169381
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11625.s1
17.3
M
Control (matched sibling)
NA
NA
42400173
42492102
91930
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11773.s1
14.3
M
Control (matched sibling)
NA
NA
42960531
42966492
5962
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12062.s1
7.8
F
Control (matched sibling)
NA
NA
42866381
42898393
32013
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-12106.s1
10.9
F
Control (matched sibling)
NA
NA
43404779
43427365
22587
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12317.s1
10.8
F
Control (matched sibling)
NA
NA
42368294
42369778
1485
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12481.s1
9
M
Control (matched sibling)
NA
NA
42397020
42402683
5664
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-13016.s1
9.5
F
Control (matched sibling)
NA
NA
41617595
41656388
38794
GRCh38
Deletion
No
Cases
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
cappuccio_19_ASD_discovery_cases-case1
aCGH (PerkinElmer CGX HD)
Possibly paternal
Paternal
Possibly multi-generational
Possibly segregated
HNRNPUP1
Reduced expression of LRFN5 and chr14.232.a in patient fibroblasts
davis_09_ASD_discovery_cases-AU059004
Unknown
Unknown
Unknown
0 genes
digregorio_17_DD/ID_discovery_cases-DECIPHER_283327
qPCR
Maternal (translocation)
KRT8P2,EIF4BP1,LINC02307
engchuan_15_ASD_discovery_cases-case1153_4
Unknown
KRT8P2
engchuan_15_ASD_discovery_cases-case13123_1403
Unknown
KRT8P2
engchuan_15_ASD_discovery_cases-case14020_400
Unknown
engchuan_15_ASD_discovery_cases-case16048_1571101001
Unknown
KRT8P2
engchuan_15_ASD_discovery_cases-case20048_1265001
Unknown
KRT8P2
engchuan_15_ASD_discovery_cases-case20104_1474001
Unknown
KRT8P2
engchuan_15_ASD_discovery_cases-case2257_1
Unknown
KRT8P2
engchuan_15_ASD_discovery_cases-case3026_4
Unknown
engchuan_15_ASD_discovery_cases-case3076_4
Unknown
KRT8P2
engchuan_15_ASD_discovery_cases-case4320_1
Unknown
engchuan_15_ASD_discovery_cases-case4366_1
Unknown
KRT8P2
engchuan_15_ASD_discovery_cases-case4520_1
Unknown
KRT8P2
engchuan_15_ASD_discovery_cases-case5013_3
Unknown
engchuan_15_ASD_discovery_cases-case5200_3
Unknown
engchuan_15_ASD_discovery_cases-case5435_4
Unknown
engchuan_15_ASD_discovery_cases-case6372_3
Unknown
KRT8P2
engchuan_15_ASD_discovery_cases-case8658_201
Unknown
KRT8P2
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004285
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
kanduri_15_ASD_discovery_cases-case2923
Paternal
Unknown
Unknown
LINC00871 (non-coding RNA, exonic)
kanduri_15_ASD_discovery_cases-case3046
Paternal
Unknown
Unknown
Intergenic CNV: nearest genes, FSCB(dist=448985)
marshall_08_ASD_discovery_cases-SK0305-004
qPCR, qmPCR
Unknown
NA
NA
mikhail_11_DD/ID_discovery_cases-patient6
FISH
Possibly maternal
Unknown (not paternal)
Unknown
Unknown
FKBP1BP1,LRFN5
pinto_10_ASD_discovery_cases-case5200_3
Agilent1M
paternal
Simplex
NA
pinto_10_ASD_discovery_cases-case5435_4
Agilent1M
paternal
NA
NA
prasad_12_ASD_discovery_cases-case62345L
Unknown
Unknown
Unknown
0 genes
prasad_12_ASD_discovery_cases-case78621
Unknown
Unknown
Unknown
0 genes
sanders_11_ASD_discovery_cases-11258.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11289.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11336.p1
Maternal
Simplex (quad-proband matched)
Segregated
sanders_11_ASD_discovery_cases-11476.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11625.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11773.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11780.p1
Maternal
Simplex (trio)
NA
sanders_11_ASD_discovery_cases-12083.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12106.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12187.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12317.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12481.p1
Maternal
Simplex (quad-proband matched)
Not segregated
speevak_11_DD_discovery_cases-case1
Unknown
NA
NA
LINC00871
Controls
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
brandler_18_ASD_discovery_controls-controlSSC03665
SNP VCF
De novo
engchuan_15_ASD_discovery_controls-control110036023109_
Unknown
KRT8P2
engchuan_15_ASD_discovery_controls-control110036023588_
Unknown
KRT8P2
engchuan_15_ASD_discovery_controls-control110036023596_
Unknown
KRT8P2
engchuan_15_ASD_discovery_controls-controlB357802_1007874407
Unknown
KRT8P2
engchuan_15_ASD_discovery_controls-controlB478115_1007842238
Unknown
KRT8P2
engchuan_15_ASD_discovery_controls-controlB512685_1007872550
Unknown
engchuan_15_ASD_discovery_controls-controlB763377_1007853322
Unknown
KRT8P2
engchuan_15_ASD_discovery_controls-controlB769494_1007846090
Unknown
engchuan_15_ASD_discovery_controls-controlB822754_0057061009
Unknown
KRT8P2
engchuan_15_ASD_discovery_controls-controlB904265_1007873471
Unknown
engchuan_15_ASD_discovery_controls-controlHABC_900086_900086
Unknown
KRT8P2
engchuan_15_ASD_discovery_controls-controlHABC_900525_900525
Unknown
KRT8P2
engchuan_15_ASD_discovery_controls-controlHABC_900614_900614
Unknown
engchuan_15_ASD_discovery_controls-controlHABC_900703_900703
Unknown
engchuan_15_ASD_discovery_controls-controlHABC_902477_902477
Unknown
KRT8P2
engchuan_15_ASD_discovery_controls-controlHABC_902550_902550
Unknown
engchuan_15_ASD_discovery_controls-controlHABC_902553_902553
Unknown
engchuan_15_ASD_discovery_controls-controlHABC_902619_902619
Unknown
KRT8P2
engchuan_15_ASD_discovery_controls-controlHABC_902630_902630
Unknown
engchuan_15_ASD_discovery_controls-controlHABC_902732_902732
Unknown
KRT8P2
engchuan_15_ASD_discovery_controls-controlHABC_903002_903002
Unknown
KRT8P2
girirajan_13b_ASD_discovery_controls-30706106486
Unknown
KRT8P2
kanduri_15_ASD_discovery_controls-control_split1394
Unknown
Intergenic CNV: nearest genes, MIS18BP1(dist=302070),LINC00871(dist=468635)
kanduri_15_ASD_discovery_controls-control_split811
Unknown
Intergenic CNV: nearest genes, MIS18BP1(dist=302070),LINC00871(dist=468635)
sanders_11_ASD_discovery_controls-11067.s1
Both parents
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11101.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11258.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11350.s1
Unknown
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11476.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11625.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11773.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12062.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12106.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12317.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12481.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-13016.s1
Maternal
Simplex (quad)
NA
LRFN5
No Animal Model Data Available