1p35.3CNV Type: Deletion
Largest CNV size: 47039 bp
Statistics Box:
Number of Reports: 6
Number of Reports: 6
Summary Information
Summary statement in development
Additional Locus Information
References
Major Reports
Title
Author, Year
Report Class
CNV Type
An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabili...
Deletion-Duplication
Paternally inherited cis-regulatory structural variants are associated with autism.
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
Performance of case-control rare copy number variation annotation in classification of autism.
Deletion
The Role of mGluR Copy Number Variation in Genetic and Environmental Forms of Syndromic Autism Spectrum Disorder.
Deletion
Cases
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
brandler_18_ASD_discovery_cases
Affected individuals from the Relating Genes with Adolescent and Child Health (REACH) cohort (362 cases from 311 families; 54 multiplex, 243 simplex) and the Simons Simplex 1 (SSC1) cohort (518 cases from simplex quad families)
880
REACH cohort: 285 cases diagnosed with ASD, 43 cases diagnosed with PDD-NOS, 10 cases diagnosed with ADHD, and 24 cases presenting with speech delay, epilepsy, anxiety, or other related developmental disorders that were classified as cases for bioinformatics analyses; Simons Simplex Collection 1 (SSC1) cohort: all 518 cases were diagnosed with ASD
N/A
N/A
7092
1
0
1
brandler_18_ASD_replication_cases
Affected individuals from MSSNG cohort (1395 cases from 1187 families) and the Simons Simplex 2 (SSC2) cohort (584 cases from simplex quad families)
1979
Cases diagnosed with ASD
N/A
N/A
2095
2
0
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
198365
3
0
3
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
288319
1
1
2
krumm_15_ASD_discovery_cases
Probands from the Simons Simplex Collection
2377
Diagnosis of ASD
N/A
N/A
7504
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
47039
3
0
3
wenger_16_ASD_discovery_cases
ASD cases with CNVs containing genes involved in the mGluR network from an initial cohort of 539 cases
62
ASD
N/A
N/A
35224
1
0
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
88746
0
3
3
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
7504
1
1
2
sanders_11_ASD_discovery_controls
Matched siblings of autistic probands from the Simons Simplex Collection (SSC).
872
Controls
Mean, 10.0 yrs.
6633
1
0
1
Cases
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
brandler_18_ASD_discovery_cases
N/A
WGS
Illumina HiSeq X10 or HiSeq 2500
ForestSV, Lumpy, Manta, Mobster, SV2
PCR, array SNP
brandler_18_ASD_replication_cases
N/A
WGS
Illumina HiSeq X10
ForestSV, Lumpy, Manta, Mobster, SV2
None
engchuan_15_ASD_discovery_cases
Caucasian
Solid phase hybridization
Illumina 1M
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)
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
wenger_16_ASD_discovery_cases
N/A
Solid phase hybridization
Illumina HumanHap 550 or Illumina Human610-Quad v1.0
PennCNV
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
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)
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
brandler_18_ASD_discovery_cases-caseSSC00517
N/A
M
ASD
Case from SSC_phase1 cohort
28576545
28583637
7093
GRCh38
Deletion
Yes
brandler_18_ASD_replication_cases-case1-0466-003
N/A
M
ASD
Case from MSSNG cohort
27973360
27973465
106
GRCh38
Deletion
No
brandler_18_ASD_replication_cases-caseAU3866301
N/A
M
ASD
Case from MSSNG cohort
28578019
28580113
2095
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case14366_980
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
29439132
29591162
152031
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case2275_1
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
28284150
28359140
74991
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case6219_4
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
28447637
28478185
30549
GRCh38
Deletion
No
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001729
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
27601122
27889441
288320
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004716
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
27952842
28193956
241115
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_cases-case14264.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
29275447
29282951
7505
GRCh38
Deletion
Yes
sanders_11_ASD_discovery_cases-12201.p1
13.3
M
Autism
NA
Full-scale IQ, 130; non-verbal IQ, 131; verbal IQ, 116
28459147
28506185
47039
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12287.p1
7.9
M
Autism
NA
Full-scale IQ, 43; non-verbal IQ, 55; verbal IQ, 28
28459147
28485035
25889
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-13136.p1
6.5
M
Autism
NA
Full-scale IQ, 42; non-verbal IQ, 53; verbal IQ, 31
28460518
28506982
46465
GRCh38
Deletion
No
wenger_16_ASD_discovery_cases-case44
N/A
N/A
ASD
Prior clinical diagnosis of genetic syndrome: n/a
27745325
27780548
35224
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
engchuan_15_ASD_discovery_controls-control110036021749_
N/A
N/A
Control
No previous psychiatric history
28624350
28678234
53885
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-control110036021749_
N/A
N/A
Control
No previous psychiatric history
28433331
28522076
88746
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlHABC_900524_900524
N/A
N/A
Control
No previous psychiatric history
28556461
28605113
48653
GRCh38
Duplication
No
krumm_15_ASD_discovery_controls-control13842.s1
N/A
Female
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
29148409
29150192
1784
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_controls-control14264.s1
N/A
Female
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
29275447
29282951
7505
GRCh38
Deletion
Yes
sanders_11_ASD_discovery_controls-12117.s1
12
F
Control (matched sibling)
NA
NA
28281105
28287738
6634
GRCh38
Deletion
No
Cases
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
brandler_18_ASD_discovery_cases-caseSSC00517
PCR or SNP data validation
Maternal
SNHG12,SNORD99,SNORA61,SNORA44,SNORA16A,TRNAU1AP
brandler_18_ASD_replication_cases-case1-0466-003
No validation step reported
Paternal
EYA3
brandler_18_ASD_replication_cases-caseAU3866301
No validation step reported
Paternal
SNHG12,SNORD99,SNORA61,TRNAU1AP
engchuan_15_ASD_discovery_cases-case14366_980
Unknown
engchuan_15_ASD_discovery_cases-case2275_1
Unknown
MED18
engchuan_15_ASD_discovery_cases-case6219_4
Unknown
PHACTR4
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001729
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
De novo
Unknown
Unknown
LINC02574,IFI6,RNU6-949P,CHMP1AP1,RNU6-424P,RPEP3,RNU6-1245P,SCARNA1,AHDC1,FGR,FAM76A,PPP1R8,THEMIS2,STX12
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004716
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
RN7SL559P,SPCS2P4,RNU6-176P,SMPDL3B,XKR8,EYA3,PTAFR
krumm_15_ASD_discovery_cases-case14264.p1
Omni2.5-4v1
Paternal
Simplex
Not segregated (CNV in unaffected sibling)
PTPRU
sanders_11_ASD_discovery_cases-12201.p1
Unknown
Simplex (quad-proband matched)
Not segregated
RNU6ATAC27P,RCC1,SNHG3,PHACTR4
sanders_11_ASD_discovery_cases-12287.p1
Paternal
Simplex (trio)
NA
RNU6ATAC27P,PHACTR4
sanders_11_ASD_discovery_cases-13136.p1
Unknown
Simplex (quad-proband matched)
Not segregated
RNU6ATAC27P,RCC1,SNHG3,PHACTR4
wenger_16_ASD_discovery_cases-case44
Unknown
FAM76A,STX12
Controls
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
engchuan_15_ASD_discovery_controls-control110036021749_
Unknown
LINC01715,RNU11,TAF12,GMEB1
engchuan_15_ASD_discovery_controls-control110036021749_
Unknown
RNU6ATAC27P,SNORA73A,SNORA73B,RCC1,SNHG3,PHACTR4
engchuan_15_ASD_discovery_controls-controlHABC_900524_900524
Unknown
SNHG12,SNORD99,SNORA61,SNORA44,SNORA16A,RAB42,TAF12,TRNAU1AP
krumm_15_ASD_discovery_controls-control13842.s1
Omni2.5-4v1
Paternal
SRSF4
krumm_15_ASD_discovery_controls-control14264.s1
Omni2.5-4v1
Paternal
PTPRU
sanders_11_ASD_discovery_controls-12117.s1
Unknown
Simplex (quad)
NA
SESN2
No Animal Model Data Available