10p11.21-p11.1CNV Type: Deletion-Duplication
Largest CNV size: 427628 bp
Statistics Box:
Number of Reports: 2
Number of Reports: 2
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
Rare structural variation of synapse and neurotransmission genes in autism.
Duplication
Multiple recurrent de novo CNVs, including duplications of the 7q11.23 Williams syndrome region, are strongly associated with autism.
Deletion-Duplication
Cases
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
gai_11_ASD_replication_cases
Replication case samples derived from AGRE sets 1-3
593
Idiopathic autism; cases designated as 'spectrum' and 'not quite autism' excluded, as were cases with known genetic syndromes or other non-idiopathic causes
723937
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
427628
5
2
7
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.
427628
10
5
15
Cases
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
gai_11_ASD_replication_cases
European
Solid phase hybridization
Illumina Infinium II HumanHap550 BeadChip
BeadStudio 3.0
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
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
gai_11_ASD_replication_cases-AU025703
Autism
38339138
39063074
723937
Unknown
Duplication
No
sanders_11_ASD_discovery_cases-11101.p1
5.2
M
Autism
NA
Full-scale IQ, 46; non-verbal IQ, 57; verbal IQ, 38
38466315
38620145
153831
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11122.p1
7.8
F
Autism
NA
Full-scale IQ, 113; non-verbal IQ, 114; verbal IQ 107
38466315
38620145
153831
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11124.p1
11.1
M
Autism
NA
Full-scale IQ, 57; non-verbal IQ, 72; verbal IQ, 44
38466315
38597164
130850
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11173.p1
10.3
M
Autism
NA
Full-scale IQ, 62; non-verbal IQ, 71; verbal IQ 49
38466315
38597164
130850
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11435.p1
17.7
M
Autism
NA
Full-scale IQ, 65; non-verbal IQ, 63; verbal IQ, 70
38466315
38620145
153831
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11544.p1
15.5
M
Autism
NA
Full-scale IQ, 115; non-verbal IQ, 112; verbal IQ, 113
38432342
38855767
423426
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12077.p1
10.9
M
Autism
NA
Full-scale IQ, 63; non-verbal IQ, 70; verbal IQ, 52
38461191
38576607
115417
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
sanders_11_ASD_discovery_controls-11071.s1
20
F
Control (matched sibling)
NA
NA
38466315
38597164
130850
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11075.s1
9.9
M
Control (matched sibling)
NA
NA
38466315
38610565
144251
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11327.s1
9.5
F
Control (matched sibling)
NA
NA
38466315
38620145
153831
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11390.s1
6.8
F
Control (matched sibling)
NA
NA
38466315
38597164
130850
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11435.s1
23.3
M
Control (matched sibling)
NA
NA
38466315
38597164
130850
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11436.s1
6.5
F
Control (matched sibling)
NA
NA
38466315
38620145
153831
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11444.s1
19.5
F
Control (matched sibling)
NA
NA
38449613
38855767
406155
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11542.s1
14.6
F
Control (matched sibling)
NA
NA
38466315
38597164
130850
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11544.s1
17.7
M
Control (matched sibling)
NA
NA
38432342
38855767
423426
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11644.s1
14.2
F
Control (matched sibling)
NA
NA
38411306
38487918
76613
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11685.s1
7.8
M
Control (matched sibling)
NA
NA
38461191
38576607
115417
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11920.s1
18.3
M
Control (matched sibling)
NA
NA
38461191
38576607
115417
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11942.s1
14.6
M
Control (matched sibling)
NA
NA
38411306
38610565
199260
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11986.s1
9
F
Control (matched sibling)
NA
NA
38454617
38576607
121991
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12062.s1
7.8
F
Control (matched sibling)
NA
NA
38466315
38610565
144251
GRCh38
Deletion
No
Cases
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
gai_11_ASD_replication_cases-AU025703
Inherited
ZNF33A, ZNF37A, LOC100129055, HSD17B7P2, CDC10L, LOC399744
sanders_11_ASD_discovery_cases-11101.p1
Unknown
Simplex (quad-proband matched)
Not segregated
ABCD1P2
sanders_11_ASD_discovery_cases-11122.p1
Maternal
Simplex (trio)
NA
ABCD1P2
sanders_11_ASD_discovery_cases-11124.p1
Paternal
Simplex (quad-proband matched)
Segregated
sanders_11_ASD_discovery_cases-11173.p1
Unknown
Simplex (trio)
NA
sanders_11_ASD_discovery_cases-11435.p1
Maternal
Simplex (quad-proband matched)
Not segregated
ABCD1P2
sanders_11_ASD_discovery_cases-11544.p1
Paternal
Simplex (quad-proband matched)
Not segregated
ABCD1P2,PABPC1P12,ACTR3BP5,CICP9,CHEK2P5,SLC9B1P3
sanders_11_ASD_discovery_cases-12077.p1
Paternal
Simplex (trio)
NA
Controls
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
sanders_11_ASD_discovery_controls-11071.s1
Unknown
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11075.s1
Unknown
Simplex (quad)
NA
ABCD1P2
sanders_11_ASD_discovery_controls-11327.s1
Paternal
Simplex (quad)
NA
ABCD1P2
sanders_11_ASD_discovery_controls-11390.s1
Unknown
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11435.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11436.s1
Unknown
Simplex (quad)
NA
ABCD1P2
sanders_11_ASD_discovery_controls-11444.s1
Unknown
Simplex (quad)
NA
ABCD1P2,PABPC1P12,ACTR3BP5,CICP9,CHEK2P5,SLC9B1P3
sanders_11_ASD_discovery_controls-11542.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11544.s1
Paternal
Simplex (quad)
NA
ABCD1P2,PABPC1P12,ACTR3BP5,CICP9,CHEK2P5,SLC9B1P3
sanders_11_ASD_discovery_controls-11644.s1
Both parents
Simplex (quad)
NA
RNU6-1118P,CICP9
sanders_11_ASD_discovery_controls-11685.s1
Unknown
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11920.s1
Unknown
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11942.s1
Unknown
Simplex (quad)
NA
RNU6-1118P,ABCD1P2,CICP9
sanders_11_ASD_discovery_controls-11986.s1
Unknown
Simplex (quad)
NA
CICP9
sanders_11_ASD_discovery_controls-12062.s1
Both parents
Simplex (quad)
NA
ABCD1P2
No Animal Model Data Available