6p24.2CNV Type: Deletion
Largest CNV size: 93742 bp
Statistics Box:
Number of Reports: 4
Number of Reports: 4
Summary Information
Summary statement in development
Additional Locus Information
References
Major Reports
Title
Author, Year
Report Class
CNV Type
No Major Reports
Minor Reports
Title
Author, Year
Report Class
CNV Type
Multiple recurrent de novo CNVs, including duplications of the 7q11.23 Williams syndrome region, are strongly associated with autism.
Deletion
Performance of case-control rare copy number variation annotation in classification of autism.
Deletion-Duplication
Segregating patterns of copy number variations in extended autism spectrum disorder (ASD) pedigrees
Duplication
Cases
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
abdi_23_ASD_discovery_cases
Individuals diagnosed with ASD from 100 families enrolled from Sidra Medicines various pediatric clinics (Developmental Pediatrics, Child and Adolescent Psychiatry, Adolescent Medicine) as part of the BARAKA-Qatar study cohort
104
Cases diagnosed with ASD according to DSM-5 criteria
84.615% Male
2327
0
2
2
engchuan_15_ASD_discovery_cases
Samples from the Autism Genome Project (AGP)
1892
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
N/A
85.78% Male
110040
1
1
2
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
93742
2
0
2
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)
177169
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
345567
3
0
3
sanders_11_ASD_discovery_controls
Matched siblings of autistic probands from the Simons Simplex Collection (SSC).
872
Controls
Mean, 10.0 yrs.
7722
1
0
1
Cases
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
abdi_23_ASD_discovery_cases
Qatar
WGS
Illumina HiSeq X
CNVnator, DELLY, ERDS, Manta, Speedseq, SvABA
GATK v.3.3
engchuan_15_ASD_discovery_cases
Caucasian
Solid phase hybridization
Illumina 1M
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
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
None
Controls
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
engchuan_15_ASD_discovery_controls
Caucasian
Solid phase hybridization
Illumina 1M
None
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
abdi_23_ASD_discovery_cases-caseBRK-72-01
5 yrs.
M
ASD
Additional medical history: GI disturbances. Family history: born to non-consanguineous Arab parents.
10978757
10981083
2327
GRCh38
Homozygous deletion
No
engchuan_15_ASD_discovery_cases-case13035_443
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
10518117
10571759
53643
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case6109_3
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
10801009
10911049
110041
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11079.p1
11.8
M
Autism
NA
Full-scale IQ, 53; non-verbal IQ, 48; verbal IQ, 63
10548284
10642026
93743
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12266.p1
5.7
M
Autism
NA
Full-scale IQ, 58; non-verbal IQ, 65; verbal IQ, 54
10692043
10702776
10734
GRCh38
Deletion
No
woodbury-smith_20_ASD_discovery_cases-case2-0938-003
N/A
M
ASD
Case diagnosed with autism spectrum disorder (diagnosis confirmed by ADI-R and ADOS-Revised and as meeting DSM-IV criteria). CNV also observed in an unaffected family member
11182762
11359930
177169
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-controlB313404_1007873600
N/A
N/A
Control
No previous psychiatric history
10652142
10705657
53516
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlHABC_900942_900942
N/A
N/A
Control
No previous psychiatric history
10556639
10902206
345568
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlHABC_902700_902700
N/A
N/A
Control
No previous psychiatric history
10548284
10636852
88569
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11941.s1
8.7
F
Control (matched sibling)
NA
NA
10506743
10514465
7723
GRCh38
Deletion
No
Cases
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
abdi_23_ASD_discovery_cases-caseBRK-72-01
Both parents
ELOVL2,SYCP2L
engchuan_15_ASD_discovery_cases-case13035_443
Unknown
GCNT2
engchuan_15_ASD_discovery_cases-case6109_3
Unknown
MAK,SYCP2L,TMEM14B,GCM2
sanders_11_ASD_discovery_cases-11079.p1
Paternal
Simplex (quad-proband matched)
Segregated
GCNT2
sanders_11_ASD_discovery_cases-12266.p1
Maternal
Simplex (trio)
NA
C6orf52,PAK1IP1
woodbury-smith_20_ASD_discovery_cases-case2-0938-003
Unknown
Extended multiplex
Not segregated
NEDD9
Controls
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
engchuan_15_ASD_discovery_controls-controlB313404_1007873600
Unknown
C6orf52,PAK1IP1
engchuan_15_ASD_discovery_controls-controlHABC_900942_900942
Unknown
TMEM14C,RNA5SP203,C6orf52,PAK1IP1,MAK,SYCP2L,GCNT2,TMEM14B,GCM2
engchuan_15_ASD_discovery_controls-controlHABC_902700_902700
Unknown
GCNT2
sanders_11_ASD_discovery_controls-11941.s1
Unknown
Simplex (quad)
NA
GCNT2
No Animal Model Data Available