13q13.1CNV Type: Deletion
Largest CNV size: 19911 bp
Statistics Box:
Number of Reports: 6
Number of Reports: 6
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...
Deletion
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
Refinement and discovery of new hotspots of copy-number variation associated with autism spectrum disorder.
Duplication
Paternally inherited cis-regulatory structural variants are associated with autism.
Deletion
Cases
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
allach_el_khattabi_18_ASD/DD/ID_discovery_cases
Cases with 16p13.11 duplications whom had been referred to 11 French and 1 Belgian genetic centers for various developmental disorders
45
The most frequently observed clinical features in cases were speech delay (88%), learning disabilities/intellectual disability (86%), ASD (67%), and motor delay (49%).
Range, 6 months-25 years
48.89% Male
746902
0
1
1
brandler_18_ASD_replication_cases
Affected individuals from MSSNG cohort (1395 cases from 1187 families) and the Simons Simplex 2 (SSC2) cohort (584 cases from simplex quad families)
1979
Cases diagnosed with ASD
N/A
N/A
2481
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
86649
1
0
1
girirajan_13a_ASD_discovery_cases
1979 simplex cases from the Simons Simplex Collection (SSC), 579 multiplex cases from AGRE.
2588
Diagnosis of ASD based on meeting criteria on the Autism Diagnostic Observation Schedule (ADOS) and on the Autism Diagnostic Interview, Revised (ADI-R)
NA
NA
1773000
0
1
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
371524
1
0
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
19911
3
0
3
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
87901
2
1
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
sanders_11_ASD_discovery_controls
Matched siblings of autistic probands from the Simons Simplex Collection (SSC).
872
Controls
Mean, 10.0 yrs.
15818
3
0
3
Cases
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
allach_el_khattabi_18_ASD/DD/ID_discovery_cases
France, Belgium
aCGH, solid phase hybridization
Agilent 44K, Agilent 60K, Agilent 105K, Agilent 180K, Illumina HumanHap300, Illumina HumanCytoSNP-12
None
brandler_18_ASD_replication_cases
N/A
WGS
Illumina HiSeq X10
ForestSV, Lumpy, Manta, Mobster, SV2
None
gai_11_ASD_replication_cases
European
Solid phase hybridization
Illumina Infinium II HumanHap550 BeadChip
BeadStudio 3.0
None
girirajan_13a_ASD_discovery_cases
NA
aCGH
Custom microarray with a high density of probes targeted to 1,367 regions with a susceptible genomic architecture
ADM-2
Agilent Genomic Workbench
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
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
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
allach_el_khattabi_18_ASD/DD/ID_discovery_cases-case32
9 yrs.
M
ASD, developmental delay, and learning disabilities
Birth/neonatal history: birth weight 75th %ile, length 90th %ile, OFC 90th %ile. Developmental milestones: developmental delay, speech delay. Behavioral/psychiatric evaluation: ASD, sleep disorders.
Learning disabilities
31201702
31948603
746902
GRCh38
Duplication
No
brandler_18_ASD_replication_cases-caseAU2433303
N/A
M
ASD
Case from MSSNG cohort
32265578
32268058
2481
GRCh38
Deletion
No
gai_11_ASD_replication_cases-AU015805
Autism
31156560
31243208
86649
Unknown
Deletion
No
girirajan_13a_ASD_discovery_cases-13590.p1
N/A
N/A
ASD
Diagnosis of ASD based on meeting criteria on the Autism Diagnostic Observation Schedule (ADOS) and on the Autism Diagnostic Interview, Revised (ADI-R)
N/A
32717863
34487863
1770001
GRCh38
Duplication
No
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005049
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
33018055
33389580
371526
GRCh38
Deletion
Yes
sanders_11_ASD_discovery_cases-12102.p1
5.1
M
Autism
NA
Full-scale IQ, 45; non-verbal IQ, 52; verbal IQ, 38
32956017
32957890
1874
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12170.p1
7.8
F
ASD
NA
Full-scale IQ, 80; non-verbal IQ, 85; verbal IQ, 77
31954821
31961859
7039
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12757.p1
5.3
M
Autism
NA
Full-scale IQ, 57; non-verbal IQ, 62; verbal IQ, 55
32946956
32966867
19912
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-controlB495422_1007852884
N/A
N/A
Control
No previous psychiatric history
32332309
32363866
31558
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlB944304_1007853858
N/A
N/A
Control
No previous psychiatric history
32319134
32398243
79110
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlHABC_900046_900046
N/A
N/A
Control
No previous psychiatric history
32757748
32845649
87902
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11088.s1
14.5
F
Control (matched sibling)
NA
NA
32325251
32341069
15819
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11715.s1
6.6
F
Control (matched sibling)
NA
NA
31954821
31961859
7039
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-13083.s1
9.8
F
Control (matched sibling)
NA
NA
33027446
33032891
5446
GRCh38
Deletion
No
Cases
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
allach_el_khattabi_18_ASD/DD/ID_discovery_cases-case32
Unknown
Unknown
ANKRD26P4,RXFP2,B3GLCT,FRY
brandler_18_ASD_replication_cases-caseAU2433303
No validation step reported
Maternal
FRY
gai_11_ASD_replication_cases-AU015805
Inherited
RXFP2
girirajan_13a_ASD_discovery_cases-13590.p1
Unknown
Simplex
Unknown
RNY1P4,TOMM22P3,LINC02344,RNU5A-4P,VDAC1P12,STARD13-AS,PDS5B,LINC00423,KL,STARD13,STARD13-IT1,RFC3,LINC02343,LINC00457
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005049
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
LINC02344,STARD13-AS,KL,STARD13,STARD13-IT1
sanders_11_ASD_discovery_cases-12102.p1
Unknown
Simplex (trio)
NA
sanders_11_ASD_discovery_cases-12170.p1
Both parents
Simplex (quad-proband matched)
Segregated
FRY
sanders_11_ASD_discovery_cases-12757.p1
Unknown
Simplex (trio)
NA
TOMM22P3
Controls
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
engchuan_15_ASD_discovery_controls-controlB495422_1007852884
Unknown
BRCA2
engchuan_15_ASD_discovery_controls-controlB944304_1007853858
Unknown
IFIT1P1,BRCA2
engchuan_15_ASD_discovery_controls-controlHABC_900046_900046
Unknown
RNY1P4,PDS5B
sanders_11_ASD_discovery_controls-11088.s1
Unknown
Simplex (quad)
NA
BRCA2
sanders_11_ASD_discovery_controls-11715.s1
Paternal
Simplex (quad)
NA
FRY
sanders_11_ASD_discovery_controls-13083.s1
Unknown
Simplex (quad)
NA
KL
No Animal Model Data Available