10q26.11CNV Type: Deletion-Duplication
Largest CNV size: 230846 bp
Statistics Box:
Number of Reports: 7
Number of Reports: 7
Summary Information
Summary statement in development
Additional Locus Information
References
Major 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-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
Rare structural variation of synapse and neurotransmission genes in autism.
Deletion
Rare de novo and transmitted copy-number variation in autistic spectrum disorders.
Duplication
Copy number variation analysis of patients with intellectual disability from North-West Spain.
Duplication
Cases
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
gai_11_ASD_discovery_cases
Discovery case samples derived from AGRE set 4 (most recent patient recruitment)
631
Idiopathic autism; cases designated as 'spectrum' and 'not quite autism' excluded, as were cases with known genetic syndromes or other non-idiopathic causes
38678
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
567633
0
1
1
krumm_15_ASD_discovery_cases
Probands from the Simons Simplex Collection
2377
Diagnosis of ASD
N/A
N/A
171931
0
1
1
levy_11_ASD_discovery_cases
Autistic probands from 887 families from the Simons Simplex Collection (SSC)
858
ASD
87.06% Male
230846
0
2
2
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
253000
0
2
2
quintela_17_DD/ID_discovery_cases
Galician (NW Spain) patients recruited from the Complexo Hospitalario Universitario de Santiago de Compostela and referred to the Fundacion Publica Galega de Medicina Xenomica for genetic study
573
All participants had a clinical diagnosis of idiopathic intellectual disability (ID) or global developmental delay (DD) with or without another medical condition [e.g. autism spectrum disorder (ASD), attention deficit hyperactivity disorder (ADHD), epilepsy, dysmorphic features, and/or congenital anomalies]
Range, 3 months-18 years
60.38% Male
366489
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
189571
4
3
7
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
krumm_15_ASD_discovery_controls
Unaffected siblings from quad families from the Simons Simplex Collection
1786
Control
N/A
N/A
5276
0
1
1
leblond_19_ASD_discovery_controls
Control cohort consisting of 136 unaffected relatives of ASD cases and 185 non-autism controls
321
Control
N/A
N/A
745780
0
1
1
levy_11_ASD_discovery_controls
Unaffected siblings of autistic probands from 887 families from the Simons Simplex Collection (SSC)
863
Control
47.97% Male
68005
0
1
1
sanders_11_ASD_discovery_controls
Matched siblings of autistic probands from the Simons Simplex Collection (SSC).
872
Controls
Mean, 10.0 yrs.
65695
1
1
2
Cases
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
gai_11_ASD_discovery_cases
European
Solid phase hybridization
Illumina Infinium II HumanHap550 BeadChip
BeadStudio 3.0
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
krumm_15_ASD_discovery_cases
N/A
WES
CoNIFER, XHMM
Solid phase hybridization (Illumina 1M, 1 M Duo, or Omni 2.5)
levy_11_ASD_discovery_cases
aCGH
NimbleGen HD2
HMM
maini_18_ASD/DD/ID_discovery_cases
Italian
aCGH, array SNP
Multiple platforms, including Agilent and Affymetrix arrays (8x60K oligochips since 2012)
None
quintela_17_DD/ID_discovery_cases
North West Spain
Array SNP
Affymetrix Cytogenetics Whole-Genome 2M SNP array, Affymetrix CytoScan HD
Affymetrix ChAS v.1.2.2
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
qPCR
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
krumm_15_ASD_discovery_controls
N/A
WES
CoNIFER, XHMM
Solid phase hybridization (Illumina 1M, 1 M Duo, or Omni 2.5)
leblond_19_ASD_discovery_controls
Faroe Islands
Solid phase hybridization, WES
Illumina Infinium IlluminaOmni5-4 BeadChip, AgilentSureSelect Human All Exon V5
PennCNV, QuantiSNP
XHMM
None
levy_11_ASD_discovery_controls
aCGH
NimbleGen HD2
HMM
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_discovery_cases-AU1234303
Autism
121359384
121398061
38678
Unknown
Deletion
No
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00003803
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
118832386
119400019
567634
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_cases-case11718.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
119036038
119207969
171932
GRCh38
Duplication
Yes
levy_11_ASD_discovery_cases-11355.p1
NA
M
ASD
NA
NA
118623103
118691107
68005
GRCh38
Duplication
No
levy_11_ASD_discovery_cases-11718.p1
NA
M
ASD
NA
NA
118991606
119222451
230846
GRCh38
Duplication
No
maini_18_ASD/DD/ID_discovery_cases-case_unknown5
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)
118364549
118593841
229293
GRCh38
Duplication
No
maini_18_ASD/DD/ID_discovery_cases-case_unknown6
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)
119073681
119326776
253096
GRCh38
Duplication
No
quintela_17_DD/ID_discovery_cases-caseID_21
6 yrs.
M
Intellectual disability
Additional clinical information N/A
Intellectual disability
118847292
119213780
366489
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11355.p1
8.8
M
ASD
NA
Full-scale IQ, 69; non-verbal IQ, 73; verbal IQ, 67
118623363
118689058
65696
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11473.p1
11.5
M
Autism
NA
Full-scale IQ, 108; non-verbal IQ, 109; verbal IQ, 105
118390273
118395354
5082
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11519.p1
6.7
M
Autism
NA
Full-scale IQ, 50; non-verbal IQ, 84; verbal IQ, 23
119755811
119779013
23203
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11718.p1
10.8
M
Autism
NA
Full-scale IQ, 97; non-verbal IQ, 93; verbal IQ, 108
118998581
119188152
189572
GRCh38
Duplication
Yes
sanders_11_ASD_discovery_cases-12194.p1
5.7
M
Autism
NA
Full-scale IQ, 88; non-verbal IQ, 97; verbal IQ, 78
119909144
119933508
24365
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12451.p1
9.6
M
ASD
NA
Full-scale IQ, 75; non-verbal IQ, 77; verbal IQ, 77
119909144
119933508
24365
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-13388.p1
5.4
M
Autism
NA
Full-scale IQ, 91; non-verbal IQ, 81; verbal IQ, 113
118018880
118030971
12092
GRCh38
Deletion
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
krumm_15_ASD_discovery_controls-control11355.s1
N/A
Female
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
118686127
118691403
5277
GRCh38
Duplication
Yes
leblond_19_ASD_discovery_controls-controlPN400261
N/A
F
Control
Non-autism control
118008987
118754766
745780
GRCh38
Duplication
No
levy_11_ASD_discovery_controls-11355.s1
NA
F
Control
NA
NA
118623103
118691107
68005
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11355.s1
5.4
F
Control (matched sibling)
NA
NA
118623363
118689058
65696
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11473.s1
9.3
F
Control (matched sibling)
NA
NA
118390273
118395354
5082
GRCh38
Deletion
No
Cases
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
gai_11_ASD_discovery_cases-AU1234303
Inherited
0 genes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00003803
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
RPL17P36,LDHAP5,SNORA19,RN7SL749P,MIR4681,NANOS1,EIF3A,FAM45A,PRDX3,GRK5-IT1,SFXN4,GRK5
krumm_15_ASD_discovery_cases-case11718.p1
Illumina 1MDuo
De novo
Simplex
Not segregated (CNV in unaffected sibling)
SNORA19,EIF3A,FAM45A,PRDX3,SFXN4,GRK5
levy_11_ASD_discovery_cases-11355.p1
Maternal
Simplex
Not segregated
TOMM22P5,CACUL1
levy_11_ASD_discovery_cases-11718.p1
De novo
Simplex
Segregated
SNORA19,RN7SL749P,NANOS1,EIF3A,FAM45A,PRDX3,GRK5-IT1,SFXN4,GRK5
maini_18_ASD/DD/ID_discovery_cases-case_unknown5
Paternal
Unknown
Unknown
SLC25A18P1,PRLHR,LINC00867
maini_18_ASD/DD/ID_discovery_cases-case_unknown6
Paternal
Unknown
Unknown
RN7SL749P,EIF3A,FAM45A,PRDX3,GRK5-IT1,SFXN4,GRK5
quintela_17_DD/ID_discovery_cases-caseID_21
Unknown
Unknown
RPL17P36,LDHAP5,SNORA19,RN7SL749P,NANOS1,EIF3A,FAM45A,PRDX3,GRK5-IT1,SFXN4,GRK5
sanders_11_ASD_discovery_cases-11355.p1
Maternal
Simplex (quad-proband matched)
Not segregated
TOMM22P5,CACUL1
sanders_11_ASD_discovery_cases-11473.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11519.p1
Paternal
Simplex (quad-proband matched)
Segregated
RN7SL846P,INPP5F
sanders_11_ASD_discovery_cases-11718.p1
qPCR
De Novo
Simplex (quad-proband matched)
Segregated
SNORA19,NANOS1,EIF3A,FAM45A,PRDX3,SFXN4
sanders_11_ASD_discovery_cases-12194.p1
Unknown
Simplex (trio)
NA
SEC23IP
sanders_11_ASD_discovery_cases-12451.p1
Unknown
Simplex (quad-proband matched)
Segregated
SEC23IP
sanders_11_ASD_discovery_cases-13388.p1
Paternal
Simplex (trio)
NA
RAB11FIP2
Controls
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
krumm_15_ASD_discovery_controls-control11355.s1
Illumina 1M
Maternal
CACUL1
leblond_19_ASD_discovery_controls-controlPN400261
Unknown
SLC25A18P1,PRLHR,TOMM22P5,RAB11FIP2,FAM204A,CASC2,LINC00867,CACUL1
levy_11_ASD_discovery_controls-11355.s1
Maternal
Simplex
NA
TOMM22P5,CACUL1
sanders_11_ASD_discovery_controls-11355.s1
Maternal
Simplex (quad)
NA
TOMM22P5,CACUL1
sanders_11_ASD_discovery_controls-11473.s1
Maternal
Simplex (quad)
NA
No Animal Model Data Available