13q11-q12.11CNV Type: Duplication
Largest CNV size: 532694 bp
Statistics Box:
Number of Reports: 3
Number of Reports: 3
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.
Duplication
Minor Reports
Title
Author, Year
Report Class
CNV Type
Rare structural variation of synapse and neurotransmission genes in autism.
Deletion
Cases
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
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
114575
1
0
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
3300000
0
2
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
532694
0
1
1
Controls
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
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
Cases
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
gai_11_ASD_replication_cases
European
Solid phase hybridization
Illumina Infinium II HumanHap550 BeadChip
BeadStudio 3.0
None
maini_18_ASD/DD/ID_discovery_cases
Italian
aCGH, array SNP
Multiple platforms, including Agilent and Affymetrix arrays (8x60K oligochips since 2012)
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
Controls
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
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
Cases
Patient ID
Author, Year
Age
Gender
Primary Diagnosis
Clinical Profile
Cognitive Profile
CNV Start
CNV End
CNV Size
Genome Build
Type Method
Validation
gai_11_ASD_replication_cases-AU045514
Autism
18394434
18509008
114575
Unknown
Deletion
No
maini_18_ASD/DD/ID_discovery_cases-case_unknown23
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 pathogenic
18850545
22014411
3163867
GRCh38
Mosaic triplication
No
marshall_08_ASD_discovery_cases-SK0079-003
NA
M
ASD
NA
NA
18488160
19020854
532695
GRCh38
Duplication
Yes
Controls
No Control Data Available
Cases
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
gai_11_ASD_replication_cases-AU045514
Inherited
LOC348021
maini_18_ASD/DD/ID_discovery_cases-case_unknown23
De novo
Unknown
Unknown
RNU6-55P,RNU6-76P,SNX19P2,LINC00442,USP24P1,GTF2IP3,RNA5SP24,TUBA3C,MRPL3P1,LINC00421,CCNQP3,CYCSP32,ESRRAP1,CASC4P1,PSPC1-AS2,RN7SL166P,ST6GALNAC4P1,PPIAP28,LINC00556,GJB2,GJB6,MIR4499,SLC35E1P1,RNU2-7P,RANP8,PPIAP27,RPSAP54,LATS2-AS1,RNU4-9P,RPS12P23,IPPKP1,SAP18,MRPL57,LINC01046,GRK6P1,GAPDHP52,RNA5SP25,ZDHHC20-IT1,HIST1H2BPS3,FNTAP2,RNU6-59P,RPS7P10,LINC00424,ANKRD20A9P,LINC00408,SMPD4P2,PSPC1P1,ANKRD26P3,SLC25A15P2,MRPS31P2,LINC00350,PSPC1,ZMYM5,KRR1P1,LINC01072,GJA3,EEF1AKMT1,CNOT4P1,HNRNPA1P30,LATS2,SKA3,ESRRAP2,MIPEPP3,LINC00539,ZDHHC20,FGF9,RN7SL766P,PHF2P2,CENPIP1,PARP4P2,TPTE2,MPHOSPH8,ZMYM2,CRYL1,IFT88,IL17D,XPO4,MICU2
marshall_08_ASD_discovery_cases-SK0079-003
qPCR, qmPCR
Unknown
NA
NA
BNIP3P7,LONRF2P2,LINC00388,FEM1AP4,LINC00387,TERF1P5,FAM207BP,GXYLT1P1,ZNF965P,CYP4F34P,SNX18P26,LINC00328-2P,RHOT1P3,RNU6-55P,RNU6-76P,SNX19P2,LINC00442,USP24P1,LINC00349,CNN2P12,ANKRD20A9P,LINC00408,PHF2P2
Controls
No Control Data Available
No Animal Model Data Available