13q14.3CNV Type: Deletion-Duplication
Largest CNV size: 66258 bp
Statistics Box:
Number of Reports: 11
Number of Reports: 11
Summary Information
Summary statement in development
Additional Locus Information
References
Major Reports
Title
Author, Year
Report Class
CNV Type
An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabili...
Duplication
Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations.
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
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.
Deletion
Molecular karyotyping by array CGH in a Russian cohort of children with intellectual disability, autism, epilepsy and congenital anomalies.
Deletion
Performance of case-control rare copy number variation annotation in classification of autism.
Duplication
Copy number variation analysis of patients with intellectual disability from North-West Spain.
Duplication
Exome sequencing of 457 autism families recruited online provides evidence for autism risk genes
Deletion
Cases
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
celestino-soper_11_ASD_discovery_cases
ASD probands from Simons Simplex Collection (SSC) trios. 90 of the probands in this study were also used in the Sanders et al. 2011 CNV report.
99
ASD
87.88% Male
322
1
0
1
engchuan_15_ASD_discovery_cases
Samples from the Autism Genome Project (AGP)
1892
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
N/A
85.78% Male
124790
0
2
2
feliciano_19_ASD_discovery_cases
ASD probands from 457 families (418 simplex, 39 multiplex) from the SPARK cohort
465
All cases diagnosed with ASD
Range of age at enrollment, 1.544.6 years
80.86% Male
1039277
1
0
1
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
183340
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
164989
1
0
1
kaminsky_11_DD/ID/ASD_discovery_cases
Cases from the International Standards for Cytogenomic Arrays (ISCA) consortium
15749
Unexplained developmental delay, intellectual disability, dysmorphic features, multiple congenital anomalies, autism spectrum disorders, or clinical features suggestive of a chromosomal syndrome
NA
NA
540950
0
1
1
krumm_15_ASD_discovery_cases
Probands from the Simons Simplex Collection
2377
Diagnosis of ASD
N/A
N/A
256748
1
0
1
levy_11_ASD_discovery_cases
Autistic probands from 887 families from the Simons Simplex Collection (SSC)
858
ASD
87.06% Male
66258
1
1
2
o'roak_12_ASD_discovery_cases
Autistic probands from the Simons Simplex Collection (SSC), from an initial cohort of 189 autism families
122
ASD/autism
NA
NA
60583
0
1
1
quintela_17_DD/ID_discovery_cases
Galician (NW Spain) patients recruited from the Complexo Hospitalario Universitario de Santiago de Compostela and referred to the Fundacion Publica Galega de Medicina Xenomica for genetic study
573
All participants had a clinical diagnosis of idiopathic intellectual disability (ID) or global developmental delay (DD) with or without another medical condition [e.g. autism spectrum disorder (ASD), attention deficit hyperactivity disorder (ADHD), epilepsy, dysmorphic features, and/or congenital anomalies]
Range, 3 months-18 years
60.38% Male
674390
0
1
1
sanders_11_ASD_discovery_cases
Autistic probands from the Simons Simplex Collection (SSC). 872 probands in quartet families, 272 probands in trios.
1124
ASD diagnosis: 89.5% autism; 8.5% PDD-NOS, 2% Asperger syndrome. Mean full-scale IQ 85.1 1.5 (mean verbal IQ, 81.9 1.7; mean non-verbal IQ, 88.4 1.4)
Mean, 9.1 yrs.
86.1% Male
60583
7
5
12
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
1017325
1
2
3
kaminsky_11_DD/ID/ASD_discovery_controls
Controls from the International Standards for Cytogenomic Arrays (ISCA) consortium
10118
Controls
NA
NA
NA
NA
NA
NA
krumm_15_ASD_discovery_controls
Unaffected siblings from quad families from the Simons Simplex Collection
1786
Control
N/A
N/A
90556
0
1
1
levy_11_ASD_discovery_controls
Unaffected siblings of autistic probands from 887 families from the Simons Simplex Collection (SSC)
863
Control
47.97% Male
66258
0
1
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)
774833
0
1
1
sanders_11_ASD_discovery_controls
Matched siblings of autistic probands from the Simons Simplex Collection (SSC).
872
Controls
Mean, 10.0 yrs.
69800
0
2
2
Cases
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
celestino-soper_11_ASD_discovery_cases
aCGH
Agilent 1M
ADM-2
Agilent Feature Extraction v10.7.3.1, Agilent DNA Analytics v4.0.76
None
engchuan_15_ASD_discovery_cases
Caucasian
Solid phase hybridization
Illumina 1M
None
feliciano_19_ASD_discovery_cases
N/A
WES
Illumina HumanCoreExome 550K
CoNIFER, XHMM
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_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
o'roak_12_ASD_discovery_cases
NA
WES
NimbleGen EZ Exome V2.0, Illumina GAIIx or HiSeq2000
HMM
mrsFAST aligner
aCGH, Sanger sequencing
quintela_17_DD/ID_discovery_cases
North West Spain
Array SNP
Affymetrix Cytogenetics Whole-Genome 2M SNP array, Affymetrix CytoScan HD
Affymetrix ChAS v.1.2.2
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
Controls
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
engchuan_15_ASD_discovery_controls
Caucasian
Solid phase hybridization
Illumina 1M
None
kaminsky_11_DD/ID/ASD_discovery_controls
NA
aCGH
Agilent 44K, Agilent 105K
Feature Extraction, DNA Analytics
krumm_15_ASD_discovery_controls
N/A
WES
CoNIFER, XHMM
Solid phase hybridization (Illumina 1M, 1 M Duo, or Omni 2.5)
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
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
celestino-soper_11_ASD_discovery_cases-11455
NA
M
ASD
NA
NA
51584475
51584797
323
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case14135_2330
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
51574574
51699364
124791
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case3128_3
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
49550485
49611068
60584
GRCh38
Duplication
No
feliciano_19_ASD_discovery_cases-caseSP0043850
N/A
M
ASD
Family history: both parents are negative for ASD and have no reported mental health diagnoses.
52011495
53050772
1039278
GRCh38
Deletion
No
gai_11_ASD_replication_cases-AU025703
Autism
51066794
51250133
183340
Unknown
Deletion
No
iourov_12_ASD/ID/EP_discovery_cases-case39
3 yrs.
F
Developmental delay/intellectual disability
Hydrocephaly, seizures, facial dysmorphisms. Karyotype: 16qh-, 16qh-.
Developmental delay/intellectual disability
48329787
48494776
164990
GRCh38
Deletion
No
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002374
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
51717666
52258617
540952
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_cases-case13317.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
50713216
50969964
256749
GRCh38
Deletion
Yes
levy_11_ASD_discovery_cases-11083.p1
NA
M
ASD
NA
NA
49549720
49615977
66258
GRCh38
Duplication
No
levy_11_ASD_discovery_cases-11472.p1
NA
F
ASD
NA
NA
52338960
52379254
40295
GRCh38
Deletion
No
o'roak_12_ASD_discovery_cases-case11083.p1
NA
M
ASD/Autism
Case also identified with de novo mutation. No additional clinical info available.
High IQ. Non verbal IQ, 119
49550485
49611068
60584
GRCh38
Duplication
Yes
quintela_17_DD/ID_discovery_cases-caseID_163
4 yrs.
M
Intellectual disability and epilepsy
Epilepsy, microcephaly, dysmorphic facial features
Intellectual disability
53903123
54577512
674390
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11083.p1
8.8
M
Autism
NA
Full-scale IQ, 122; non-verbal IQ, 119; verbal IQ, 122
49550485
49611068
60584
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11276.p1
7.7
M
Autism
NA
Full-scale IQ, 63; non-verbal IQ, 81; verbal IQ 59
49799448
49799662
215
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11446.p1
8.3
M
Autism
NA
Full-scale IQ, 68; non-verbal IQ, 76; verbal IQ, 63
49799448
49799662
215
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11573.p1
8.6
M
ASD
NA
Full-scale IQ, 68; non-verbal IQ, 85; verbal IQ, 51
49799448
49799662
215
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11592.p1
10.1
M
Autism
NA
Full-scale IQ, 115; non-verbal IQ, 109; verbal IQ, 122
49799448
49799662
215
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11625.p1
11.6
M
Autism
NA
Full-scale IQ, 34; non-verbal IQ, 44; verbal IQ, 14
49799448
49799662
215
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
49799448
49799662
215
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12071.p1
11.7
F
Autism
NA
Full-scale IQ, 108; non-verbal IQ, 102; verbal IQ, 112
52593378
52602054
8677
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12121.p1
8.5
M
Autism
NA
Full-scale IQ, 130; non-verbal IQ, 134; verbal IQ, 110
49799448
49799662
215
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12430.p1
9.8
F
Autism
NA
Full-scale IQ, 109; non-verbal IQ, 110; verbal IQ, 106
49799448
49799662
215
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12617.p1
10.8
F
Autism
NA
Full-scale IQ, 109; non-verbal IQ, 112; verbal IQ, 106
49799448
49799662
215
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12742.p1
4.8
M
ASD
NA
Full-scale IQ, 105; non-verbal IQ, 103; verbal IQ, 106
49799448
49799662
215
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
engchuan_15_ASD_discovery_controls-controlB983717_1007842477
N/A
N/A
Control
No previous psychiatric history
52160723
52609727
449005
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlHABC_900208_900208
N/A
N/A
Control
No previous psychiatric history
52545569
52714959
169391
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlHABC_900457_900457
N/A
N/A
Control
No previous psychiatric history
49944592
50961917
1017326
GRCh38
Deletion
No
krumm_15_ASD_discovery_controls-control13589.s1
N/A
Male
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
51584687
51675243
90557
GRCh38
Duplication
Yes
levy_11_ASD_discovery_controls-11083.s1
NA
F
Control
NA
NA
49549720
49615977
66258
GRCh38
Duplication
No
poultney_13_ASD_discovery_controls-control04C31069A
N/A
M
Control
NIMH Control (NIMH ID 68756)
51964870
52739703
774834
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11083.s1
12.9
F
Control (matched sibling)
NA
NA
49541268
49611068
69801
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11298.s1
13.4
M
Control (matched sibling)
NA
NA
49550485
49611068
60584
GRCh38
Duplication
No
Cases
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
celestino-soper_11_ASD_discovery_cases-11455
Unknown
Simplex
NA
WDFY2
engchuan_15_ASD_discovery_cases-case14135_2330
Unknown
RNY1P6,RN7SL413P,ATP5PBP1,WDFY2
engchuan_15_ASD_discovery_cases-case3128_3
Unknown
RCBTB1
feliciano_19_ASD_discovery_cases-caseSP0043850
Paternal
Simplex
UTP14C,LINC02333,RNY4P24,LINC00345,HNRNPA1L2,MIR759,PPIAP26,PCDH8,ATP7B,ALG11,NEK3,MRPS31P5,THSD1,CKAP2,MRPS31P4,CNMD,OLFM4,NEK5,TPTE2P2,SUGT1,VPS36
null
gai_11_ASD_replication_cases-AU025703
Inherited
WDFY2, DHRS12
iourov_12_ASD/ID/EP_discovery_cases-case39
Unknown
Unknown
Unknown
LPAR6,RB1,RCBTB2
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002374
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
CCDC70,CTAGE3P,FABP5P2,UTP14C,TMEM272,ATP7B,ALG11,NEK3,MRPS31P5,WDFY2,DHRS12,NEK5,TPTE2P2
krumm_15_ASD_discovery_cases-case13317.p1
1M-Duov3
Maternal
Simplex
Segregated
RNA5SP28,DLEU7-AS1,RNASEH2B-AS1,DLEU7,RNASEH2B,DLEU1
levy_11_ASD_discovery_cases-11083.p1
Paternal
Simplex
Not segregated
RCBTB1
levy_11_ASD_discovery_cases-11472.p1
Paternal
Simplex
Segregated
LINC02333,THSD1
o'roak_12_ASD_discovery_cases-case11083.p1
aCGH, Sanger sequencing
Paternal
Simplex (quad)
Unknown
RCBTB1
quintela_17_DD/ID_discovery_cases-caseID_163
Unknown
Unknown
MIR1297,RPL13AP25,LINC00458
sanders_11_ASD_discovery_cases-11083.p1
Paternal
Simplex (quad-proband matched)
Not segregated
RCBTB1
sanders_11_ASD_discovery_cases-11276.p1
Both parents
Simplex (quad-proband unmatched)
Unknown
sanders_11_ASD_discovery_cases-11446.p1
Both parents
Simplex (quad-proband matched)
Segregated
sanders_11_ASD_discovery_cases-11573.p1
Both parents
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11592.p1
Both parents
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11625.p1
Both parents
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11780.p1
Maternal
Simplex (trio)
NA
sanders_11_ASD_discovery_cases-12071.p1
Paternal
Simplex (quad-proband matched)
Segregated
MRPS31P4
sanders_11_ASD_discovery_cases-12121.p1
Maternal
Simplex (quad-proband matched)
Segregated
sanders_11_ASD_discovery_cases-12430.p1
Both parents
Simplex (quad-proband matched)
Segregated
sanders_11_ASD_discovery_cases-12617.p1
Both parents
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12742.p1
Both parents
Simplex (trio)
NA
Controls
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
engchuan_15_ASD_discovery_controls-controlB983717_1007842477
Unknown
LINC02333,RNY4P24,LINC00345,MRPS31P5,THSD1,CKAP2,MRPS31P4,TPTE2P2,VPS36
engchuan_15_ASD_discovery_controls-controlHABC_900208_900208
Unknown
HNRNPA1L2,MRPS31P4,CNMD,SUGT1
engchuan_15_ASD_discovery_controls-controlHABC_900457_900457
Unknown
MIR3613,MIR16-1,MIR15A,RPL18P10,ST13P4,RPL34P26,DLEU1-AS1,RNA5SP28,TRIM13,KCNRG,DLEU7-AS1,RNASEH2B-AS1,DLEU2,DLEU7,RNASEH2B,DLEU1
krumm_15_ASD_discovery_controls-control13589.s1
1M-Duov3
Maternal
RNY1P6,RN7SL413P,ATP5PBP1,WDFY2
levy_11_ASD_discovery_controls-11083.s1
Paternal
Simplex
NA
RCBTB1
poultney_13_ASD_discovery_controls-control04C31069A
Unknown
FABP5P2,UTP14C,LINC02333,RNY4P24,LINC00345,HNRNPA1L2,ATP7B,ALG11,NEK3,MRPS31P5,THSD1,CKAP2,MRPS31P4,CNMD,NEK5,TPTE2P2,SUGT1,VPS36
sanders_11_ASD_discovery_controls-11083.s1
Paternal
Simplex (quad)
NA
RCBTB1
sanders_11_ASD_discovery_controls-11298.s1
Maternal
Simplex (quad)
NA
RCBTB1
No Animal Model Data Available