16q23.3-q24.1CNV Type: Deletion
Largest CNV size: 5900000 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
Protein interactome reveals converging molecular pathways among autism disorders.
Deletion
An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabili...
Deletion-Duplication
A large data resource of genomic copy number variation across neurodevelopmental disorders
Deletion
Segregating patterns of copy number variations in extended autism spectrum disorder (ASD) pedigrees
Deletion
Minor Reports
Title
Author, Year
Report Class
CNV Type
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
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
1899144
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
2070938
2
1
3
sakai_11_ASD_discovery_cases
Autistic probands from the Simons Simplex Collection (SSC). Probands with CNVs were also identified in Levy et al. 2011 CNV report.
288
High-functioning probands (average IQ, 80.94) diagnosed with idiopathic ASD and with no signs of syndromic disorders on physcial examination or brain imaging.
5900000
1
0
1
woodbury-smith_20_ASD_discovery_cases
ASD cases from nine Canadian extended pedigrees (defined as having at least three ASD cases spread across at least two nuclear families)
39
Cases diagnosed with autism spectrum disorder (diagnosis confirmed by ADI-R and ADOS-Revised and as meeting DSM-IV criteria)
Mean age, 123.84 months (SD 101.70)
87.18% Male (6.8:1 M:F ratio)
1862381
1
0
1
zarrei_19_ASD/ADHD/OCD/SCZ_discovery_cases
Samples with neurodevelopmental disorders (NDDs) mostly from the province of Ontario, Canada
2691
1,838 cases diagnosed with ASD, 427 with ADHD, 204 with schizophrenia, and 222 with OCD
76.37% Male
1899729
1
0
1
Controls
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
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
Cases
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
brandler_18_ASD_replication_cases
N/A
WGS
Illumina HiSeq X10
ForestSV, Lumpy, Manta, Mobster, SV2
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
sakai_11_ASD_discovery_cases
aCGH
Agilent 4x44K
aCGH (CMA BAC V8.1, Baylor MGL)
woodbury-smith_20_ASD_discovery_cases
Northern European
Array SNP, solid phase hybridization
Affymetrix 6.0, Affymetrix CytoScan HD, Illumina HumanCoreExome, Illumina Omni 2.5M, Illumina Omni 1M
ChAS, iPattern, BioDiscovery Nexus, Partek Genomics Suite, PennCNV, QuantiSNP
qPCR, TaqMan, and/or visualization of bam files
zarrei_19_ASD/ADHD/OCD/SCZ_discovery_cases
74.1% European
Array SNP
Affymetrix CytoScan HD
Affymetrix ChAS, iPattern, BioDiscovery Nexus, Partek Genomics Suite
RT-qPCR or WGS
Controls
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
kaminsky_11_DD/ID/ASD_discovery_controls
NA
aCGH
Agilent 44K, Agilent 105K
Feature Extraction, DNA Analytics
Cases
Patient ID
Author, Year
Age
Gender
Primary Diagnosis
Clinical Profile
Cognitive Profile
CNV Start
CNV End
CNV Size
Genome Build
Type Method
Validation
brandler_18_ASD_replication_cases-case1-0627-007
N/A
M
ASD
Case from MSSNG cohort
83861519
85760661
1899143
GRCh38
Deletion
No
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001749
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
83016872
85087809
2070938
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00003980
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
84081930
85474903
1392974
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005362
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
83878992
84908120
1029129
GRCh38
Duplication
Yes
sakai_11_ASD_discovery_cases-11327.p1
NA
M
ASD
No history of seizures. Proband also used in Levy et al. 2011 CNV report (levy_11_ASD_discovery_cases-11327.p1).
IQ, 84; verbal IQ, 83; non-verbal IQ, 86
81163590
86137163
4973574
GRCh38
Deletion
Yes
woodbury-smith_20_ASD_discovery_cases-case1-0627-007
N/A
M
ASD
Case diagnosed with autism spectrum disorder (diagnosis confirmed by ADI-R and ADOS-Revised and as meeting DSM-IV criteria). VABS scores: social scaled score, 79; communication scaled score, 85; daily living scaled score, 93; repetitive behavior total score 17. Case presented with neonatal hypotonia. CNV not observed in four affected brothers.
83878931
85741311
1862381
GRCh38
Deletion
Yes
zarrei_19_ASD/ADHD/OCD/SCZ_discovery_cases-case1-0627-007
N/A
M
ASD
Primary diagnosis: ASD. Additional phenotype(s): no additional phenotypes reported
83859110
85758837
1899728
GRCh38
Deletion
Yes
Controls
No Control Data Available
Cases
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
brandler_18_ASD_replication_cases-case1-0627-007
No validation step reported
De novo
RNA5SP432,ADAD2,COX6CP16,LINC00311,MIR5093,RN7SL381P,MIR1910,MLYCD,OSGIN1,NECAB2,MBTPS1,HSDL1,TAF1C,KCNG4,RNA5SP433,WFDC1,ATP2C2-AS1,COTL1,KLHL36,USP10,CRISPLD2,ZDHHC7,FAM92B,LINC02139,GINS2,SLC38A8,DNAAF1,ATP2C2,KIAA0513,GSE1,C16orf74,LINC02176
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001749
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Paternal
Unknown
Unknown
MIR3182,HSBP1,RNA5SP432,ADAD2,MLYCD,OSGIN1,NECAB2,MBTPS1,HSDL1,TAF1C,KCNG4,RNA5SP433,WFDC1,ATP2C2-AS1,COTL1,KLHL36,USP10,CRISPLD2,ZDHHC7,SLC38A8,DNAAF1,ATP2C2,KIAA0513,CDH13,LINC02176
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00003980
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Paternal
Unknown
Unknown
ADAD2,COX6CP16,LINC00311,MIR5093,MBTPS1,HSDL1,TAF1C,KCNG4,RNA5SP433,WFDC1,ATP2C2-AS1,COTL1,KLHL36,USP10,CRISPLD2,ZDHHC7,FAM92B,LINC02139,DNAAF1,ATP2C2,KIAA0513,GSE1,LINC02176
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005362
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Maternal
Unknown
Unknown
RNA5SP432,ADAD2,MLYCD,OSGIN1,NECAB2,MBTPS1,HSDL1,TAF1C,KCNG4,RNA5SP433,WFDC1,ATP2C2-AS1,COTL1,KLHL36,USP10,CRISPLD2,SLC38A8,DNAAF1,ATP2C2
sakai_11_ASD_discovery_cases-11327.p1
aCGH (CMA BAC V8.1, Baylor MGL)
De novo
Simplex
NA
MIR4720,PPIAP51,MIR7854,MIR6504,RN7SKP176,MTCYBP28,RN7SKP190,MIR8058,RN7SL134P,MIR3182,HSBP1,RNA5SP432,ADAD2,COX6CP16,LINC00311,MIR5093,RN7SL381P,MIR1910,RNU1-103P,MIR6774,LINC02132,GAN,SDR42E1,MPHOSPH6,MLYCD,OSGIN1,NECAB2,MBTPS1,HSDL1,TAF1C,KCNG4,RNA5SP433,WFDC1,ATP2C2-AS1,COTL1,KLHL36,USP10,CRISPLD2,ZDHHC7,FAM92B,LINC02139,GINS2,EMC8,COX4I1,IRF8,PKD1L2,BCO1,CMIP,HSD17B2,SLC38A8,DNAAF1,ATP2C2,KIAA0513,GSE1,C16orf74,PLCG2,CDH13,LINC02176
woodbury-smith_20_ASD_discovery_cases-case1-0627-007
qPCR, TaqMan, and/or visualization of bam files
De novo
Multiplex
Not segregated
RNA5SP432,ADAD2,COX6CP16,LINC00311,MIR5093,RN7SL381P,MLYCD,OSGIN1,NECAB2,MBTPS1,HSDL1,TAF1C,KCNG4,RNA5SP433,WFDC1,ATP2C2-AS1,COTL1,KLHL36,USP10,CRISPLD2,ZDHHC7,LINC02139,GINS2,SLC38A8,DNAAF1,ATP2C2,MEAK7,KIAA0513,GSE1,C16orf74,LINC02176
zarrei_19_ASD/ADHD/OCD/SCZ_discovery_cases-case1-0627-007
RT-qPCR or WGS
De novo
RNA5SP432,ADAD2,COX6CP16,LINC00311,MIR5093,RN7SL381P,MIR1910,MLYCD,OSGIN1,NECAB2,MBTPS1,HSDL1,TAF1C,KCNG4,RNA5SP433,WFDC1,ATP2C2-AS1,COTL1,KLHL36,USP10,CRISPLD2,ZDHHC7,FAM92B,LINC02139,GINS2,SLC38A8,DNAAF1,ATP2C2,MEAK7,KIAA0513,GSE1,C16orf74,LINC02176
null
Controls
No Control Data Available
No Animal Model Data Available