6q15-q16.1CNV Type: Deletion
Largest CNV size: 124058 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
Copy number variations associated with autism spectrum disorders contribute to a spectrum of neurodevelopmental disorders.
Duplication
Whole genome sequencing resource identifies 18 new candidate genes for autism spectrum disorder
Duplication
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
Cases
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
rosenfeld_10_ASD_discovery_cases
Samples submitted between 3/2004 and 7/2008 that had ASD as indication for study (Signature Genomic Labs, Spokane, WA)
1461
ASD
615539
0
1
1
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
124058
1
0
1
yuen_17_ASD_discovery_cases
ASD genomes (1745 ASD probands, 879 ASD-affected siblings, 1 ASD-affected father, and 1 ASD-affected grandfather) from AGRE (n=730), the AGRE; Autism Treatment Network cohort (n=192) ,the ASD: Genomes to Outcomes Study cohort (n=1421), the Baby Siblings Research Consortium (n=43), the Baby Siblings Research Consortium; The Autism Simplex Collection cohort (n=6), the Infant Sibling Study (n=62), th
2626
ASD diagnosis of research quality when meeting criteria on one (n=437) or both (n=1361) of the diagnostic measures ADI-R and ADOS; clinical diagnosis of ASD (n=819) when given by expert clinician according to DSM-IV or DSM-5
N/A
78.71% Male
4728000
0
1
1
Controls
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
sanders_11_ASD_discovery_controls
Matched siblings of autistic probands from the Simons Simplex Collection (SSC).
872
Controls
Mean, 10.0 yrs.
124058
2
0
2
Cases
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
rosenfeld_10_ASD_discovery_cases
aCGH
BACs aCGH, whole-genome oligo-aCGH
FISH
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
yuen_17_ASD_discovery_cases
N/A
WGS
Complete Genomics, Illumina HiSeq 2000, HiSeq X
aCGH (Agilent 1M), array SNP (Affymetrix 6.0, Affymetrix CytoScan HD), solid phase hybridization (Illumina 1M, Illumina OMNI 2.5M)
Controls
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
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
rosenfeld_10_ASD_discovery_cases-case25451
NA
NA
ASD
NA
NA
91858736
92474275
615539
Unknown
Duplication
Yes
sanders_11_ASD_discovery_cases-13048.p1
12.9
F
Autism
NA
Full-scale IQ, 35; non-verbal IQ, 40; verbal IQ, 26
91285353
91409411
124059
GRCh38
Deletion
No
yuen_17_ASD_discovery_cases-case2-0225-004
N/A
N/A
ASD
Case cohort: ASD: Genomes to Outcome Study. Clinical description: N/A
92326282
97316124
4989843
GRCh38
Duplication
Yes
Controls
Patient ID
Author, Year
Age
Gender
Primary Diagnosis
Clinical Profile
Cognitive Profile
CNV Start
CNV End
CNV Size
Genome Build
Type Method
Validation
sanders_11_ASD_discovery_controls-12086.s1
25.2
M
Control (matched sibling)
NA
NA
91285353
91409411
124059
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-13048.s1
15.6
F
Control (matched sibling)
NA
NA
91285353
91409411
124059
GRCh38
Deletion
No
Cases
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
rosenfeld_10_ASD_discovery_cases-case25451
FISH
Maternal
Unknown
Unknown
0 genes
sanders_11_ASD_discovery_cases-13048.p1
Maternal
Simplex (quad-proband matched)
Not segregated
yuen_17_ASD_discovery_cases-case2-0225-004
Affymetrix CytoScan HD
Maternal
Multiplex
Not segregated
LINC02531,ATF1P1,COPS5P1,MTCYBP36,CYCSP17,MANEA-DT,KRT18P50,RN7SL797P,RPS7P8,RNU4-70P,TYMSP1,EEF1GP6,RN7SL509P,MANEA,UFL1,GPR63,NDUFAF4,FUT9,FHL5,KLHL32,MMS22L,EPHA7,UFL1-AS1
Controls
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
sanders_11_ASD_discovery_controls-12086.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-13048.s1
Maternal
Simplex (quad)
NA
No Animal Model Data Available