1p32.1-p31.3CNV Type: Duplication
Largest CNV size: 1057101 bp
Statistics Box:
Number of Reports: 5
Number of Reports: 5
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
An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabili...
Deletion
Phenotypic heterogeneity of genomic disorders and rare copy-number variants.
Deletion
Minor Reports
Title
Author, Year
Report Class
CNV Type
A discovery resource of rare copy number variations in individuals with autism spectrum disorder.
Duplication
Genomic insights from a deeply phenotyped highly consanguineous neurodevelopmental disorders cohort
Deletion
Cases
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
akter_24_ASD/ADHD/DD/ID_discovery_cases
Individuals clinically diagnosed with one or more neurodevelopmental disorders (NDDs) by neurologists from July 2019 to December 2022 from multiple tertiary hospitals across Bangladesh.
576
Cases presented with one or more neurodevelopmental disorders; specific diagnoses of ASD, ADHD, and intellectual disability were made by clinical specialists and complemented by formal assessments, such as ADOS-2 and DSM-5, where appropriate.
98.26% under 18 years of age
67.71% Male
7050278
1
0
1
girirajan_12_ASD/DD/ID_discovery_cases
Samples from affected children submitted to Signature Genomic Laboratories from 2008-2010.
32587
Developmental delay with or without congenital malformations
4264275
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
2158317
1
0
1
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
1057101
0
1
1
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
1059968
0
1
1
Controls
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
girirajan_12_ASD/DD/ID_discovery_controls
Persons found to have no overt neurological disorders during screening for other studies
8329
Control
4264275
NA
NA
NA
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
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)
1059968
0
0
0
Cases
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
akter_24_ASD/ADHD/DD/ID_discovery_cases
Bangladesh
CMA
Illumina Global Screening Array-24+ v3.0
Illumina CNVPartition 3.2.1 plug-in of GenomeStudio
girirajan_12_ASD/DD/ID_discovery_cases
aCGH
BACs aCGH, SignatureChipOS
FISH, aCGH, or confirmation by inheritance
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
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
prasad_12_ASD_discovery_cases
Canada
aCGH
Agilent 1M
ADM-2, DNAcopy (R Bioconductor)
DNA Analytics v4.0.85 (Agilent), DNAcopy
None
Controls
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
girirajan_12_ASD/DD/ID_discovery_controls
aCGH
BACs ACGH (SignatureChipoWG) or oligoarray (SignatureChipOS)
kaminsky_11_DD/ID/ASD_discovery_controls
NA
aCGH
Agilent 44K, Agilent 105K
Feature Extraction, DNA Analytics
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
Cases
Patient ID
Author, Year
Age
Gender
Primary Diagnosis
Clinical Profile
Cognitive Profile
CNV Start
CNV End
CNV Size
Genome Build
Type Method
Validation
akter_24_ASD/ADHD/DD/ID_discovery_cases-case546
3 yrs.
F
Developmental delay
Developmental milestones: global developmental delay (HP:0001263). Dysmorphic features: abnormal facial shape (HP:0001999). Growth parameters: head circumference 52 cm, height 106 cm, weight 20 kg.
60549213
67599490
7050278
GRCh38
Deletion
No
girirajan_12_ASD/DD/ID_discovery_cases-case20500
3 yrs.
M
Developmental delay
Moderate motor and severe speech delays. Persistent hypotonia, periventricular porencephalic change, posterior thinning of corpus callosum. Dysmorphic features: light pigmentation, widow's peak, triangular face, high palate. Congenital anomalies: undescended testicle. Growth parameters: normal height, weight, and OFC. Family history: cousin with obsessive compulsive disorder (OCD).
Developmental delay
59277390
63541666
4264277
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001210
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
59871038
62029355
2158318
GRCh38
Deletion
Yes
marshall_08_ASD_discovery_cases-MM0236-004
NA
M
ASD
Mild repetititve behavior, difficulty hearing
IQ/LOF 84
60191507
61248607
1057101
GRCh38
Duplication
Yes
prasad_12_ASD_discovery_cases-case46475
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
60432203
61492170
1059968
Unknown
Duplication
No
Controls
No Control Data Available
Cases
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
akter_24_ASD/ADHD/DD/ID_discovery_cases-case546
Unknown
AK4,ANGPTL3,FOXD3,ALG6,RAVER2,L1TD1,LEPROT,CACHD1,MIER1,DLEU2L,DNAI4,SGIP1,TM2D1,EFCAB7,DOCK7,ATG4C,UBE2U,IL23R,LINC00466,MRPS21P1,DYNLT5,KANK4,IL12RB2,SLC2A3P2,C1orf141,MIR101-1,NFIA-AS1,RPS29P7,DNAJB6P4,JAK1,LEPR,NFIA,ROR1,CFL1P3,RNU7-62P,RPS15AP7,MIR3117,MIR3671,MIR3116-2,MIR3116-1,MIR4794,RNA5SP49,FOXD3-AS1,NFIA-AS2,ROR1-AS1,PDE4B-AS1,LINC01359,PDE4B,PGM1,MIR6068,LINC01702,LINC01739,LINC01748,RN7SL488P,LAMTOR5P1,PIGPP2,RNU7-123P,RN7SL130P,USP1,RNU6-809P,COX6CP13,RNU4ATAC4P,RNU6-414P,RN7SL854P,RNU4-88P,RNU6-371P,RNU6-1031P,RNU6-586P,RN7SL180P,RNU6-1177P,RNU2-15P,RNU6-387P,RNU6-1176P,RPSAP65,PATJ-DT,INSL5,DNAJC6,PATJ,SERBP1,ITGB3BP,SLC35D1
girirajan_12_ASD/DD/ID_discovery_cases-case20500
FISH, aCGH, or confirmation by inheritance
De novo
Unknown
Unknown
MIR4711,RN7SL475P,PGBD4P8,NFIA-AS1,RNU6-414P,RNU6-1177P,LAMTOR5P1,RN7SL180P,MIR3116-1,MIR3116-2,PIGPP2,RPS15AP7,RNU6-371P,RNA5SP49,RPSAP65,MIR6068,RN7SL488P,RNU7-123P,HOOK1,TM2D1,L1TD1,USP1,ANGPTL3,ATG4C,LINC01739,FOXD3-AS1,FOXD3,ALG6,HSD52,CYP2J2,C1orf87,LINC01748,NFIA,NFIA-AS2,KANK4,DOCK7,LINC00466,ITGB3BP,EFCAB7,FGGY,PATJ
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001210
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
RN7SL475P,PGBD4P8,NFIA-AS1,RNU6-414P,RNU6-1177P,HOOK1,TM2D1,CYP2J2,C1orf87,LINC01748,NFIA,NFIA-AS2,PATJ
marshall_08_ASD_discovery_cases-MM0236-004
qPCR, qmPCR
Unknown
NA
NA
LINC01748,NFIA,NFIA-AS2
prasad_12_ASD_discovery_cases-case46475
Unknown
Unknown
Unknown
NFIA
Controls
No Control Data Available
No Animal Model Data Available