8p11.21-p11.1CNV Type: Duplication
Largest CNV size: 848699 bp
Statistics Box:
Number of Reports: 8
Number of Reports: 8
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...
Duplication
Minor Reports
Title
Author, Year
Report Class
CNV Type
Identifying autism loci and genes by tracing recent shared ancestry.
Duplication
Multiple recurrent de novo CNVs, including duplications of the 7q11.23 Williams syndrome region, are strongly associated with autism.
Duplication
A discovery resource of rare copy number variations in individuals with autism spectrum disorder.
Duplication
Global increases in both common and rare copy number load associated with autism.
Duplication
Rare Inherited and De Novo CNVs Reveal Complex Contributions to ASD Risk in Multiplex Families.
Duplication
Cases
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
girirajan_13b_ASD_discovery_cases
Children with autism ascertained from the Childhood Autism Risks from Genetics and Environment (CHARGE) study conducted through the Medical Investigation of Neurodevelopmental Disorders (MIND) Institute at UC-Davis after passing QC criteria (274 initial cases)
243
Diagnosis of autism confirmed by ADOS and ADI-R. Exclusion criteria: children with developmental delay but lacking symptoms and autism, as well as children with ASD as defined by the CHARGE protocol
N/A
N/A
783011
0
2
2
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
3548644
0
2
2
leppa_16_ASD_discovery_cases
Children affected with ASD from 1,464 families from the Autism Genetic Resource Exchange (AGRE)
1764
Diagnosis according to ADOS and ADI-R
N/A
N/A
900000
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
629000
0
1
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
848699
0
1
1
morrow_08_ASD_discovery_cases
Affected individuals from 70 families (52 simplex, 18 multiplex) recruited by Homozygosity Mapping Collaborative for Autism (HMCA) used in CNV analysis. This cohort was selected from an original population of affected individuals from 104 families (79 simplex, 25 multiplex; 82.7% male); 88 of these pedigrees have cousin marriages.
94
ASD (based on DSM-IV-TR diagnoses when research scales not available in native language)
593000
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
590019
0
3
3
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
777328
0
1
1
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
332921
0
1
1
girirajan_13b_ASD_discovery_controls
Controls ascertained from the Childhood Autism Risks from Genetics and Environment (CHARGE) study conducted through the Medical Investigation of Neurodevelopmental Disorders (MIND) Institute at UC-Davis after passing QC criteria (242 initial controls)
223
Control
N/A
N/A
0
0
0
0
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
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
273778
0
1
1
krumm_15_ASD_discovery_controls
Unaffected siblings from quad families from the Simons Simplex Collection
1786
Control
N/A
N/A
193586
0
1
1
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)
590019
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.
0
0
0
0
Cases
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
girirajan_13b_ASD_discovery_cases
133 European, 57 Hispanic, 27 Mixed Race, 20 Asian, 6 African-American
aCGH
Roche NimbleGen custom targeted hotspot array comprised of 135,000 probes with higher density probe coverage in genomic hotspots (regions flanked by segmental duplications)
DNA Copy Number v1.6
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
leppa_16_ASD_discovery_cases
N/A
Solid phase hybridization
Illumina 550v1 and 550v3, Omni-1.0-B and -H, Omni 2.5
PennCNV, QuantiSNP, GNOSIS
GenomeStudio, CNVision
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
morrow_08_ASD_discovery_cases
Arabic Middle East, Turkey, and Pakistan
Array SNP
Affymetrix 500K
BRLMM
dChip
prasad_12_ASD_discovery_cases
Canada
aCGH
Agilent 1M
ADM-2, DNAcopy (R Bioconductor)
DNA Analytics v4.0.85 (Agilent), DNAcopy
None
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
girirajan_13b_ASD_discovery_controls
116 European, 70 Hispanic, 27 Mixed Race, 7 Asian, 3 African-American
aCGH
Roche NimbleGen custom targeted hotspot array comprised of 135,000 probes with higher density probe coverage in genomic hotspots (regions flanked by segmental duplications)
DNA Copy Number v1.6
kaminsky_11_DD/ID/ASD_discovery_controls
NA
aCGH
Agilent 44K, Agilent 105K
Feature Extraction, DNA Analytics
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)
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
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
girirajan_13b_ASD_discovery_cases-607107598
N/A
N/A
Autism
Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Caucasian
N/A
43215533
43965123
749591
GRCh38
Duplication
No
girirajan_13b_ASD_discovery_cases-907107601
N/A
N/A
Autism
Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Caucasian
N/A
43182112
43965123
783012
GRCh38
Duplication
No
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002548
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
42535063
43541633
1006571
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005092
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
39981424
43532444
3551021
GRCh38
Duplication
Yes
leppa_16_ASD_discovery_cases-AU044003
N/A
F
ASD
43082857
43936857
854001
GRCh38
Duplication
No
maini_18_ASD/DD/ID_discovery_cases-case_unknown202
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), CNV reported as 8p11.21 in original report
42849717
43478495
628779
GRCh38
Duplication
No
marshall_08_ASD_discovery_cases-SK0077-003
NA
M
ASD
NA
NA
42997301
43846000
848700
GRCh38
Duplication
Yes
morrow_08_ASD_discovery_cases-case9101
NA
ASD
NA
NA
43190000
43783000
593000
Unknown
Duplication
No
prasad_12_ASD_discovery_cases-case115821L
NA
F
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
43170038
43647263
477226
Unknown
Duplication
No
prasad_12_ASD_discovery_cases-case48226
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
43057245
43647263
590019
Unknown
Duplication
No
prasad_12_ASD_discovery_cases-case90651
NA
F
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
43057245
43647263
590019
Unknown
Duplication
No
sanders_11_ASD_discovery_cases-12575.p1
17
M
Autism
NA
Full-scale IQ, 102; non-verbal IQ, 98; verbal IQ, 109
43199410
43976738
777329
GRCh38
Duplication
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-controlHABC_900229_900229
N/A
N/A
Control
No previous psychiatric history
43199410
43532331
332922
GRCh38
Duplication
No
krumm_13_ASD_discovery_controls-control13293.s1
N/A
F
Control
Unaffected sibling from SSC quad family 13293. SRS score of 41.
43083117
43356895
273779
GRCh38
Duplication
No (not tested)
krumm_15_ASD_discovery_controls-control14293.s1
N/A
Male
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
43103548
43297134
193587
GRCh38
Duplication
Yes
Cases
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
girirajan_13b_ASD_discovery_cases-607107598
Unknown
Unknown
Unknown
VN1R46P,AFG3L2P1,RNU6-104P,SNX18P27,CYP4F44P,POTEA
girirajan_13b_ASD_discovery_cases-907107601
Unknown
Unknown
Unknown
VN1R46P,AFG3L2P1,RNU6-104P,SNX18P27,CYP4F44P,HGSNAT,POTEA
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002548
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
THAP1,RN7SL806P,MIR4469,VN1R46P,AFG3L2P1,RNU6-104P,SNX18P27,CYP4F44P,SMIM19,CHRNA6,FNTA,RNU1-124P,HGSNAT,POTEA,SLC20A2,CHRNB3,RNF170,POMK,HOOK3
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005092
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
TCIM,RNU6-356P,MIR548AO,RPS29P2,RNU6-895P,SNORD65B,KRT18P37,MIR486-1,MIR486-2,RN7SL149P,RPL5P23,DKK4,THAP1,RN7SL806P,MIR4469,VN1R46P,AFG3L2P1,RNU6-104P,SNX18P27,SIRLNT,GOLGA7,GINS4,GPAT4,NKX6-3,AP3M2,IKBKB,POLB,VDAC3,SMIM19,CHRNA6,FNTA,RNU1-124P,HGSNAT,POTEA,IDO2,SFRP1,ANK1,PLAT,SLC20A2,CHRNB3,RNF170,POMK,ZMAT4,HOOK3,KAT6A
leppa_16_ASD_discovery_cases-AU044003
Paternal
Multiplex
Not segregated (CNV not present in affected sibling)
VN1R46P,AFG3L2P1,RNU6-104P,SNX18P27,CYP4F44P,FNTA,HGSNAT,POTEA,POMK
maini_18_ASD/DD/ID_discovery_cases-case_unknown202
Maternal
Unknown
Unknown
RN7SL806P,MIR4469,VN1R46P,AFG3L2P1,RNU6-104P,FNTA,RNU1-124P,HGSNAT,POTEA,RNF170,POMK,HOOK3
marshall_08_ASD_discovery_cases-SK0077-003
qPCR, qmPCR
Unknown
NA
NA
VN1R46P,AFG3L2P1,RNU6-104P,SNX18P27,CYP4F44P,FNTA,RNU1-124P,HGSNAT,POTEA,POMK,HOOK3
morrow_08_ASD_discovery_cases-case9101
Paternal
NA
NA
POTE8
prasad_12_ASD_discovery_cases-case115821L
Unknown
Unknown
Unknown
HGSNAT,POTEA
prasad_12_ASD_discovery_cases-case48226
Unknown
Unknown
Unknown
HGSNAT,FNTA,POTEA,SGK196
prasad_12_ASD_discovery_cases-case90651
Unknown
Unknown
Unknown
HGSNAT,FNTA,POTEA,SGK196
sanders_11_ASD_discovery_cases-12575.p1
Maternal
Simplex (quad-proband matched)
Segregated
VN1R46P,AFG3L2P1,RNU6-104P,SNX18P27,CYP4F44P,HGSNAT,POTEA
Controls
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
engchuan_15_ASD_discovery_controls-controlHABC_900229_900229
Unknown
VN1R46P,AFG3L2P1,RNU6-104P,SNX18P27,HGSNAT,POTEA
krumm_13_ASD_discovery_controls-control13293.s1
Maternal
Simplex
VN1R46P,AFG3L2P1,RNU6-104P,FNTA,HGSNAT,POTEA,POMK
krumm_15_ASD_discovery_controls-control14293.s1
Omni2.5-4v1
Maternal
VN1R46P,AFG3L2P1,HGSNAT,POTEA,POMK
No Animal Model Data Available