13q14.2CNV Type: Deletion-Duplication
Largest CNV size: 521000 bp
Statistics Box:
Number of Reports: 13
Number of Reports: 13
Summary Information
Summary statement in development
Additional Locus Information
References
Major Reports
Title
Author, Year
Report Class
CNV Type
Mapping autism risk loci using genetic linkage and chromosomal rearrangements.
Duplication
Novel submicroscopic chromosomal abnormalities detected in autism spectrum disorder.
Duplication
Copy number variations associated with autism spectrum disorders contribute to a spectrum of neurodevelopmental disorders.
Duplication
Minor Reports
Title
Author, Year
Report Class
CNV Type
Rare structural variation of synapse and neurotransmission genes in autism.
Deletion
Novel copy number variants in children with autism and additional developmental anomalies.
Duplication
Multiple recurrent de novo CNVs, including duplications of the 7q11.23 Williams syndrome region, are strongly associated with autism.
Deletion-Duplication
Epileptic encephalopathies of the Landau-Kleffner and continuous spike and waves during slow-wave sleep types: genomic dissection makes the link wi...
Duplication
Identification of small exonic CNV from whole-exome sequence data and application to autism spectrum disorder.
Deletion
Performance of case-control rare copy number variation annotation in classification of autism.
Duplication
Detection of clinically relevant copy-number variants by exome sequencing in a large cohort of genetic disorders.
Deletion
Cases
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
christian_08_ASD_discovery_cases
Subset of unrelated AGRE subjects (362 from multiplex families, 35 from simplex families)
397
ASD
58.4% Male
393000
0
1
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
308489
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
143635
0
1
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
40624
1
0
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
1546
1
0
1
krumm_15_ASD_discovery_cases
Probands from the Simons Simplex Collection
2377
Diagnosis of ASD
N/A
N/A
257638
0
4
4
lesca_12_EP_discovery_cases
Epilepsy patients collected at four French hospitals from 2009: Strasbourg Univ. Hospital (n=40), Lyons Univ. Hospital (n=18), Henri Gastaut Hospital (St. Paul Centre) in Marseille (n=2), and Reims American Memorial Hospital (n=1).
61
Epilepsy/epileptic encephalopathy. 41 patients with continuous spike and wave during slow-wave sleep syndrome (CSWSS), 20 patients with Landau-Kleffner syndrome (LKS). 12 (out of 57) patients displayed autistic features; ADHD features (hyperactivity, attention deficit and/or aggressiveness) reported in 41/58 patients,
Mean age of diagnosis: 5.6 yrs. (range, 1-14 yrs.)
61% Male
33000
0
1
1
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
160000
0
1
1
pfundt_16_NDD_discovery_cases
Subset of a cohort of 2,603 patients affected by genetic disorders for which exome seqeuncing was performed in a diagnostic setting
1215
Neurodevelopmental disorders
N/A
N/A
1081004
1
0
1
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)
59542
1
0
1
rosenfeld_10_ASD_discovery_cases
Samples submitted between 3/2004 and 7/2008 that had ASD as indication for study (Signature Genomic Labs, Spokane, WA)
1461
ASD
457963
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
140841
2
2
4
szatmari_07_ASD_discovery_cases
ASD patients from 173 families with at least two affected individuals from AGP
196
Patients diagnosed with ASD based on ADI-R and ADOS
521000
0
2
2
Controls
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
christian_08_ASD_discovery_controls
Control subjects from NIMH Genetics Initiative Control sample set, characterized for Axis I disorders
372
Controls
393000
0
0
0
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
808410
0
2
2
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
10627
1
1
2
krumm_15_ASD_discovery_controls
Unaffected siblings from quad families from the Simons Simplex Collection
1786
Control
N/A
N/A
137793
0
2
2
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)
0
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.
140841
1
2
3
Cases
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
christian_08_ASD_discovery_cases
235 White/Not Hispanic, 28 White/Hispanic, 9 Asians, 4 Blacks, 14 Mixed/Not Hispanic, 7 Mixed/Hispanic, 98 Unknown
aCGH
RPCI 19K BAC microarray
FISH, microsatellite, qPCR
davis_09_ASD_discovery_cases
NA
Array SNP
Affymetrix 250K Nsp, Affymetrix 250K Syt
HMM
CNAG v2.0
None
engchuan_15_ASD_discovery_cases
Caucasian
Solid phase hybridization
Illumina 1M
None
gai_11_ASD_replication_cases
European
Solid phase hybridization
Illumina Infinium II HumanHap550 BeadChip
BeadStudio 3.0
None
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)
lesca_12_EP_discovery_cases
France
aCGH
Agilent SurePrint G3 Human CGH Microarray 4x180K
ADM-2
Agilent Feature Extraction v10.7.3.1, Agilent Genomic WORKBENCH v5.0.14
None
maini_18_ASD/DD/ID_discovery_cases
Italian
aCGH, array SNP
Multiple platforms, including Agilent and Affymetrix arrays (8x60K oligochips since 2012)
None
pfundt_16_NDD_discovery_cases
N/A
WES
Solid5500xl, IlluminaHiSeq2000
CoNIFER
None
poultney_13_ASD_discovery_cases
European
WES
Agilent SureSelect Human All Exon v.2
XHMM
None
rosenfeld_10_ASD_discovery_cases
aCGH
BACs aCGH, whole-genome oligo-aCGH
FISH
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
szatmari_07_ASD_discovery_cases
Array SNP
Affymetrix 10K (v2)
HMM
dChip
Karyotyping, qPCR, aCGH, array SNP, overlap with Mendelian genotype errors
Controls
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
christian_08_ASD_discovery_controls
262 Caucasians, 100 African-Americans
aCGH
RPCI 19K BAC microarray
engchuan_15_ASD_discovery_controls
Caucasian
Solid phase hybridization
Illumina 1M
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)
poultney_13_ASD_discovery_controls
European
WES
Agilent SureSelect Human All Exon v.2
XHMM
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
christian_08_ASD_discovery_cases-AU038304
NA
M
ASD
NA
NA
47508902
47901829
392928
GRCh38
Duplication
Yes
davis_09_ASD_discovery_cases-AU038303
NA
NA
Non-syndromic ASD
Diagnosis: Autism/spectrum on ADOS. Non-syndromic autism (no craniofacial dysmorphology, limb or digit malformation, or ocular abnormality).
47021448
47329937
308489
Unknown
Duplication
No
engchuan_15_ASD_discovery_cases-case6254_3
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
47181895
47325530
143636
GRCh38
Duplication
No
gai_11_ASD_replication_cases-AU016403
Autism
47143354
47183977
40624
Unknown
Deletion
No
krumm_13_ASD_discovery_cases-case13808.p1
N/A
M
ASD
ASD proband from SSC quad family 13808. SRS score of 79.
Full-scale IQ (FSIQ) score of 40.
48510628
48512174
1547
GRCh38
Deletion
No (not tested)
krumm_15_ASD_discovery_cases-case11083.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Trio
49551325
49567279
15955
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_cases-case13076.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
49222039
49359832
137794
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_cases-case13400.p1
N/A
Female
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Trio
49467863
49725501
257639
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_cases-case13577.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
49559917
49567281
7365
GRCh38
Duplication
Yes
lesca_12_EP_discovery_cases-caseDY42
NA
F
Epilepsy
Phenotype: LKS-woESES. Seizure Characteristics: GTCS, PS. Autistic features: No. ADHD features: Yes. Other features: None.
Initial cognitive development: Delayed. Cognitive regression: Yes. Verbal IQ 46, performance IQ 58 (at 11.25 years of age).
47427210
47460054
32845
GRCh38
Duplication
No
maini_18_ASD/DD/ID_discovery_cases-case_unknown27
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)
49182700
49339734
157035
GRCh38
Duplication
No
pfundt_16_NDD_discovery_cases-case18
N/A
N/A
NDD
Disease cohort: neurodevelopmental disorder. Description: SULA2 deletion
46892389
47973393
1081005
GRCh38
Deletion
No
poultney_13_ASD_discovery_cases-case05HI4308A
N/A
F
ASD
ASD case from AGRE (AGRE ID AU1220301; NDAR ID NDAR_INVUY718AWP)
48456202
48515743
59542
GRCh38
Deletion
No
rosenfeld_10_ASD_discovery_cases-case11092
NA
NA
ASD
NA
NA
46386690
46844653
457963
Unknown
Duplication
Yes
sanders_11_ASD_discovery_cases-12289.p1
12.2
M
ASD
NA
Full-scale IQ, 101; non-verbal IQ, 109; verbal IQ, 86
47885766
47918919
33154
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12363.p1
14.3
M
Autism
NA
Full-scale IQ, 108; non-verbal IQ, 108; verbal IQ, 106
47432130
47439106
6977
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12469.p1
10.7
M
Aspergers
NA
Full-scale IQ, 125; non-verbal IQ, 105; verbal IQ, 151
46760510
46772164
11655
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-13076.p1
6.7
M
ASD
NA
Full-scale IQ, 89; non-verbal IQ, 85; verbal IQ, 102
49223424
49364265
140842
GRCh38
Duplication
No
szatmari_07_ASD_discovery_cases-NAAR054-F3-HI0298
NA
ASD
NA
NA
47575964
48096963
521000
GRCh38
Duplication
Yes
szatmari_07_ASD_discovery_cases-NAAR054-F4-HI0299
NA
ASD
NA
NA
47575964
48096963
521000
GRCh38
Duplication
Yes
Controls
Patient ID
Author, Year
Age
Gender
Primary Diagnosis
Clinical Profile
Cognitive Profile
CNV Start
CNV End
CNV Size
Genome Build
Type Method
Validation
engchuan_15_ASD_discovery_controls-controlHABC_900264_900264
N/A
N/A
Control
No previous psychiatric history
46794716
47603126
808411
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlHABC_900387_900387
N/A
N/A
Control
No previous psychiatric history
48983669
49068004
84336
GRCh38
Duplication
No
krumm_13_ASD_discovery_controls-control11298.s1
N/A
M
Control
Unaffected sibling from SSC quad family 11298. SRS score of 37.
49549457
49560084
10628
GRCh38
Duplication
No (not tested)
krumm_13_ASD_discovery_controls-control13808.s1
N/A
M
Control
Unaffected sibling from SSC quad family 13808. SRS score of 44.
48510628
48512174
1547
GRCh38
Deletion
No (not tested)
krumm_15_ASD_discovery_controls-control13076.s1
N/A
Female
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
49222039
49359832
137794
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_controls-control13577.s1
N/A
Female
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
49559917
49567281
7365
GRCh38
Duplication
Yes
sanders_11_ASD_discovery_controls-12091.s1
7.2
M
Control (matched sibling)
NA
NA
47432130
47439106
6977
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12289.s1
16.3
M
Control (matched sibling)
NA
NA
47888568
47918919
30352
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-13076.s1
19.5
F
Control (matched sibling)
NA
NA
49223424
49364265
140842
GRCh38
Duplication
No
Cases
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
christian_08_ASD_discovery_cases-AU038304
FISH, microsatellite
inherited
Multiplex
NA
NAP1L4P3,RPL27AP8,SUCLA2
davis_09_ASD_discovery_cases-AU038303
Unknown
Multiplex
Unknown
0 genes
engchuan_15_ASD_discovery_cases-case6254_3
Unknown
GNG5P5
gai_11_ASD_replication_cases-AU016403
Inherited
0 genes
krumm_13_ASD_discovery_cases-case13808.p1
Paternal
Simplex
Not segregated
RB1,RCBTB2
krumm_15_ASD_discovery_cases-case11083.p1
Illumina 1M
Paternal
Simplex
Segregated
RCBTB1
krumm_15_ASD_discovery_cases-case13076.p1
Illumina 1MDuo
Paternal
Simplex
Not segregated (CNV in unaffected sibling)
MLNR,CAB39L,CDADC1
krumm_15_ASD_discovery_cases-case13400.p1
1M-Duov3
Paternal
Simplex
Segregated
SNRPGP14,ARL11,SETDB2,PHF11,KPNA3,RCBTB1,EBPL
krumm_15_ASD_discovery_cases-case13577.p1
1M-Duov3
Maternal
Simplex
Not segregated (CNV in unaffected sibling)
RCBTB1
lesca_12_EP_discovery_cases-caseDY42
Unknown
Unknown
Unknown
RN7SL700P
maini_18_ASD/DD/ID_discovery_cases-case_unknown27
Paternal
Unknown
Unknown
COX7CP1,OGFOD1P1,MLNR,FNDC3A,CAB39L,CDADC1
pfundt_16_NDD_discovery_cases-case18
GNG5P5,RN7SL700P,NAP1L4P3,RPL27AP8,LINC00562,HTR2A,SUCLA2
poultney_13_ASD_discovery_cases-case05HI4308A
Unknown
Unknown (likely multiplex/AGRE)
Unknown
RB1,RCBTB2
rosenfeld_10_ASD_discovery_cases-case11092
FISH
Maternal
Unknown
Unknown
0 genes
sanders_11_ASD_discovery_cases-12289.p1
Maternal
Simplex (quad-proband matched)
Not segregated
SUCLA2
sanders_11_ASD_discovery_cases-12363.p1
Unknown
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12469.p1
Paternal
Simplex (quad-proband matched)
Segregated
ESD
sanders_11_ASD_discovery_cases-13076.p1
Paternal
Simplex (quad-proband matched)
Not segregated
CAB39L,CDADC1
szatmari_07_ASD_discovery_cases-NAAR054-F3-HI0298
Karyotyping, qPCR, aCGH, array SNP, or overlap with Mendelian genotype errors
Unknown
NA
NA
NAP1L4P3,RPL27AP8,LINC00562,SUCLA2-AS1,MED4-AS1,NUDT15,MED4,SUCLA2
szatmari_07_ASD_discovery_cases-NAAR054-F4-HI0299
Karyotyping, qPCR, aCGH, array SNP, or overlap with Mendelian genotype errors
Unknown
NA
NA
NAP1L4P3,RPL27AP8,LINC00562,SUCLA2-AS1,MED4-AS1,NUDT15,MED4,SUCLA2
Controls
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
engchuan_15_ASD_discovery_controls-controlHABC_900264_900264
Unknown
HTR2A-AS1,GNG5P5,RN7SL700P,HTR2A,ESD
engchuan_15_ASD_discovery_controls-controlHABC_900387_900387
Unknown
RNU6-60P,RAD17P2,FNDC3A
krumm_13_ASD_discovery_controls-control11298.s1
Maternal
Simplex
RCBTB1
krumm_13_ASD_discovery_controls-control13808.s1
Paternal
Simplex
RB1,RCBTB2
krumm_15_ASD_discovery_controls-control13076.s1
Illumina 1MDuo
Paternal
MLNR,CAB39L,CDADC1
krumm_15_ASD_discovery_controls-control13577.s1
1M-Duov3
Maternal
RCBTB1
sanders_11_ASD_discovery_controls-12091.s1
Unknown
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12289.s1
Maternal
Simplex (quad)
NA
SUCLA2
sanders_11_ASD_discovery_controls-13076.s1
Paternal
Simplex (quad)
NA
CAB39L,CDADC1
No Animal Model Data Available