1q25.3-q31.1CNV Type: Deletion
Largest CNV size: 6800000 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 variation characteristics in subpopulations of patients with autism spectrum disorders.
Deletion
An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabili...
Deletion
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
bremer_11_ASD_discovery_cases
223 ASD cases (164 sporadic cases, 27 familial cases. 3 adopted, 4 family history unavailable) recruited from neuropediatric units in Stockholm County and from child & adolescent psychiatric outpatient clinics in Sweden
223
25 syndromic cases (dysmorphic features and/or growth disorders and/or malformations) with IQ within normal range, 45 cases syndromic with MR (IQ < 70), 60 cases non-syndromic with normal IQ, 93 cases non-syndromic with MR
71.3% Male
6800000
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
4793396
1
0
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
46626
2
0
2
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
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
bremer_11_ASD_discovery_cases
Swedish
aCGH
BAC 33K, BAC 38K , Agilent 244K, Agilent 180K
MLPA, FISH
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
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
kaminsky_11_DD/ID/ASD_discovery_controls
NA
aCGH
Agilent 44K, Agilent 105K
Feature Extraction, DNA Analytics
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
bremer_11_ASD_discovery_cases-case13
6
F
ASD
Non-syndromic ASD, familial case
MR (IQ<70)
181130131
188028225
6898095
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004006
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
182137726
186931125
4793400
GRCh38
Deletion
Yes
sanders_11_ASD_discovery_cases-11567.p1
9.4
F
Autism
NA
Full-scale IQ, 48; non-verbal IQ, 55; verbal IQ, 34
185759023
185805649
46627
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12041.p1
6.7
M
Autism
NA
Full-scale IQ, 108; non-verbal IQ, 119; verbal IQ, 87
185759023
185805649
46627
GRCh38
Deletion
No
Controls
No Control Data Available
Cases
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
bremer_11_ASD_discovery_cases-case13
MLPA, FISH
De novo
NA
NA
LINC01732,LINC01699,RNA5SP70,RN7SKP229,YPEL5P1,RNU6-152P,EIF1P3,TEDDM1,LINC00272,TEDDM2P,HMGN1P4,RNA5SP71,RNU6-41P,RN7SL654P,RNU7-13P,RNA5SP72,FTH1P25,RPL22P24,RPL5P5,GS1-279B7.1,RNU7-183P,MCRIP2P2,RNU6-1240P,PACERR,SLC4A1APP2,GLUL,RGS16,LINC01686,RGS8,NPL,SHCBP1L,KRT18P28,LAMC1-AS1,SMG7-AS1,NCF2,APOBEC4,TSEN15,EDEM3,LINC01633,TRMT1L,IVNS1ABP,PRG4,TPR,OCLM,PDC,PTGS2,ZNF648,LINC01344,RNASEL,LINC01688,DHX9,LAMC1,LAMC2,NMNAT2,ARPC5,RGL1,COLGALT2,FAM129A,RNF2,SWT1,HMCN1,ODR4,PLA2G4A,ERVMER61-1,FDPSP1,CACNA1E,RGSL1,SMG7,LINC01350,C1orf21
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004006
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
De novo
Unknown
Unknown
YPEL5P1,RNU6-152P,EIF1P3,TEDDM1,LINC00272,TEDDM2P,HMGN1P4,RNA5SP71,RNU6-41P,RN7SL654P,RNU7-13P,RNA5SP72,FTH1P25,RPL22P24,RPL5P5,GS1-279B7.1,RNU7-183P,MCRIP2P2,RNU6-1240P,PACERR,GLUL,RGS16,LINC01686,RGS8,NPL,SHCBP1L,KRT18P28,LAMC1-AS1,SMG7-AS1,NCF2,APOBEC4,TSEN15,EDEM3,LINC01633,TRMT1L,IVNS1ABP,PRG4,TPR,OCLM,PDC,PTGS2,LINC01344,RNASEL,LINC01688,DHX9,LAMC1,LAMC2,NMNAT2,ARPC5,RGL1,COLGALT2,FAM129A,RNF2,SWT1,HMCN1,ODR4,PLA2G4A,RGSL1,SMG7,LINC01350,C1orf21
sanders_11_ASD_discovery_cases-11567.p1
Paternal
Simplex (quad-proband matched)
Segregated
HMCN1
sanders_11_ASD_discovery_cases-12041.p1
Unknown
Simplex (quad-proband matched)
Segregated
HMCN1
Controls
No Control Data Available
No Animal Model Data Available