1p35.1CNV Type: Deletion
Largest CNV size: 104924 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
Autism-specific copy number variants further implicate the phosphatidylinositol signaling pathway and the glutamatergic synapse in the etiology of ...
Deletion
The clinical significance of small copy number variants in neurodevelopmental disorders.
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
Refinement and discovery of new hotspots of copy-number variation associated with autism spectrum disorder.
Duplication
Using extended pedigrees to identify novel autism spectrum disorder (ASD) candidate genes.
Deletion
Performance of case-control rare copy number variation annotation in classification of autism.
Duplication
Cases
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
asadollahi_14_NDD_discovery_cases
Patients screened for rare non-polymorphic exonic CNVs sizing 1-500 kb
714
Patients with undiagnosed neurodevelopmental disorders (NDD) with or without further congenital anomalies
N/A
N/A
128000
0
1
1
cusco_09_ASD_discovery_cases
74 children followed in neurology clinic, 22 institutionalized mentally retarded adults with confirmed diagnosis of ASD
96
ASD
87.5% Male
104924
1
0
1
cusco_09_ASD_replication_cases
Replication cohort of ASD patients
215
ASD
104924
0
0
0
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
619272
0
2
2
girirajan_13a_ASD_discovery_cases
1979 simplex cases from the Simons Simplex Collection (SSC), 579 multiplex cases from AGRE.
2588
Diagnosis of ASD based on meeting criteria on the Autism Diagnostic Observation Schedule (ADOS) and on the Autism Diagnostic Interview, Revised (ADI-R)
NA
NA
544000
0
1
1
krumm_15_ASD_discovery_cases
Probands from the Simons Simplex Collection
2377
Diagnosis of ASD
N/A
N/A
1929
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
782
1
0
1
woodbury-smith_14_ASD_discovery_cases
Probands from 19 extended ASD pedigrees (defined as at least three ASD cases spread across at least two nuclear families); 6 families recruited in Canada, 13 families recruited in the United States
19
Diagnosis of ASD made using combination of ADI-R, ADOS, and clinical judgment in conjunction with DSM-IV criteria.
N/A
N/A
105314
1
0
1
Controls
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
cusco_09_ASD_discovery_controls
Control individuals matched for population ancestry
52
Control
51.9% Male
104924
0
0
0
cusco_09_ASD_replication_controls
Replication control cohort
120
Control
104924
0
0
0
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
555215
0
1
1
krumm_15_ASD_discovery_controls
Unaffected siblings from quad families from the Simons Simplex Collection
1786
Control
N/A
N/A
1929
1
0
1
poultney_13_ASD_discovery_controls
Controls matched for European ancestry from NIMH and CEPH retained after filtering (original cohort size of 379 controls)
260
Control
N/A
47.49% Male (before filtering)
1933
1
0
1
sanders_11_ASD_discovery_controls
Matched siblings of autistic probands from the Simons Simplex Collection (SSC).
872
Controls
Mean, 10.0 yrs.
782
1
0
1
woodbury-smith_14_ASD_discovery_controls
Platform-matched controls from the KORA and COGEND datasets
2988
Control
N/A
N/A
0
0
0
0
Cases
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
asadollahi_14_NDD_discovery_cases
Predominantly European
Array SNP
Affymetrix 6.0, Affymetrix Cytogenetics 2.7, Affymetrix CytoScan HD
HMM
Affymetrix ChAS v.1.0.1
MLPA
cusco_09_ASD_discovery_cases
Spanish
aCGH
BAC array containing 5442 large insert DNA fragments
PennCNV
CNV partition
MLPA, aCGH, array SNP
cusco_09_ASD_replication_cases
MLPA
MLPA panel containing probes targeting CNVs identified in discovery
engchuan_15_ASD_discovery_cases
Caucasian
Solid phase hybridization
Illumina 1M
None
girirajan_13a_ASD_discovery_cases
NA
aCGH
Custom microarray with a high density of probes targeted to 1,367 regions with a susceptible genomic architecture
ADM-2
Agilent Genomic Workbench
None
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
woodbury-smith_14_ASD_discovery_cases
US and Canada
Solid phase hybridization
Illumina HumanOmni2.5 BeadChip
PennCNV, QuantiSNP, iPattern
None
Controls
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
cusco_09_ASD_discovery_controls
Spanish
aCGH
BAC array containing 5442 large insert DNA fragments
cusco_09_ASD_replication_controls
MLPA
MLPA panel containing probes targeting CNVs identified in discovery
engchuan_15_ASD_discovery_controls
Caucasian
Solid phase hybridization
Illumina 1M
None
krumm_15_ASD_discovery_controls
N/A
WES
CoNIFER, XHMM
Solid phase hybridization (Illumina 1M, 1 M Duo, or Omni 2.5)
poultney_13_ASD_discovery_controls
European
WES
Agilent SureSelect Human All Exon v.2
XHMM
None
sanders_11_ASD_discovery_controls
Solid phase hybridization
Illumina 1M v1 or Illumina 1M v3
PennCNV, QuantiSNP, GNOSIS
woodbury-smith_14_ASD_discovery_controls
Predominantly European
Solid phase hybridization
Illumina HumanOmni2.5 BeadChip
PennCNV, QuantiSNP, iPattern
None
Cases
Patient ID
Author, Year
Age
Gender
Primary Diagnosis
Clinical Profile
Cognitive Profile
CNV Start
CNV End
CNV Size
Genome Build
Type Method
Validation
asadollahi_14_NDD_discovery_cases-case64926
N/A
M
NDD
Case with unspecified neurodevelopmental disorder
33361773
33489665
127893
GRCh38
Duplication
Yes
cusco_09_ASD_discovery_cases-AUT31
NA
M
Autism
NA
Severe MR
33158375
33263299
104924
Unknown
Deletion
Yes
engchuan_15_ASD_discovery_cases-case3310_3
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
32458179
33077451
619273
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case4514_1
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
32766924
32988117
221194
GRCh38
Duplication
No
girirajan_13a_ASD_discovery_cases-13137.p1
N/A
N/A
ASD
Diagnosis of ASD based on meeting criteria on the Autism Diagnostic Observation Schedule (ADOS) and on the Autism Diagnostic Interview, Revised (ADI-R)
N/A
33401812
33951812
550001
GRCh38
Duplication
No
krumm_15_ASD_discovery_cases-case11160.p1
N/A
Female
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
32206153
32208082
1930
GRCh38
Deletion
Yes
sanders_11_ASD_discovery_cases-11160.p1
6.9
F
Autism
NA
Full-scale IQ, 101; non-verbal IQ, 119; verbal IQ, 99
32207307
32208089
783
GRCh38
Deletion
No
woodbury-smith_14_ASD_discovery_cases-case1
N/A
M
ASD
Family history: broad autism phenotype (BAP)-defined father; CNV found in 1 additional ASD case.
32682962
32788275
105314
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-controlHABC_902512_902512
N/A
N/A
Control
No previous psychiatric history
33403675
33958890
555216
GRCh38
Duplication
No
krumm_15_ASD_discovery_controls-control11160.s1
N/A
Male
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
32206153
32208082
1930
GRCh38
Deletion
Yes
poultney_13_ASD_discovery_controls-control04C29036A
N/A
M
Control
NIMH Control (NIMH ID 93336)
32206152
32208084
1933
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11160.s1
11.5
M
Control (matched sibling)
NA
NA
32207307
32208089
783
GRCh38
Deletion
No
Cases
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
asadollahi_14_NDD_discovery_cases-case64926
MLPA
Maternal
Unknown
Unknown
TLR12P,ZSCAN20,PHC2
cusco_09_ASD_discovery_cases-AUT31
aCGH (Agilent 44k or 244K)
Unknown
NA
NA
RNF19B, AK2
engchuan_15_ASD_discovery_cases-case3310_3
Unknown
HPCA,ZBTB8B,ZBTB8A,RBBP4,SYNC,YARS,S100PBP,FNDC5,RNF19B,ZBTB8OS,KIAA1522,TMEM54,AK2
engchuan_15_ASD_discovery_cases-case4514_1
Unknown
HPCA,YARS,S100PBP,FNDC5,RNF19B,KIAA1522,TMEM54
girirajan_13a_ASD_discovery_cases-13137.p1
Unknown
Simplex
Unknown
TLR12P,HSPD1P14,HMGB4,ZSCAN20,CSMD2-AS1,PHC2,CSMD2
krumm_15_ASD_discovery_cases-case11160.p1
Illumina 1M
Maternal
Simplex
Not segregated (CNV in unaffected sibling)
IQCC
sanders_11_ASD_discovery_cases-11160.p1
Maternal
Simplex (quad-proband matched)
Not segregated
IQCC
woodbury-smith_14_ASD_discovery_cases-case1
Paternal
Possible multi-generational (CNV transmitted from BAP-defined parent to ASD diagnosed offspring)
Unknown
RBBP4,SYNC,YARS,KIAA1522
Controls
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
engchuan_15_ASD_discovery_controls-controlHABC_902512_902512
Unknown
TLR12P,HSPD1P14,HMGB4,ZSCAN20,CSMD2-AS1,PHC2,CSMD2
krumm_15_ASD_discovery_controls-control11160.s1
Illumina 1M
Maternal
IQCC
poultney_13_ASD_discovery_controls-control04C29036A
Unknown
IQCC
sanders_11_ASD_discovery_controls-11160.s1
Maternal
Simplex (quad)
NA
IQCC
No Animal Model Data Available