5q35.1CNV Type: Deletion-Duplication
Largest CNV size: 78894 bp
Statistics Box:
Number of Reports: 8
Number of Reports: 8
Summary Information
Summary statement in development
Additional Locus Information
References
Major Reports
Title
Author, Year
Report Class
CNV Type
Confirmation of chromosomal microarray as a first-tier clinical diagnostic test for individuals with developmental delay, intellectual disability, ...
Deletion
Both rare and de novo copy number variants are prevalent in agenesis of the corpus callosum but not in cerebellar hypoplasia or polymicrogyria.
Deletion-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-Duplication
Rare de novo and transmitted copy-number variation in autistic spectrum disorders.
Duplication
Rare exonic deletions implicate the synaptic organizer Gephyrin (GPHN) in risk for autism, schizophrenia and seizures.
Deletion
Performance of case-control rare copy number variation annotation in classification of autism.
Duplication
Genome-wide analysis of copy number variations identifies PARK2 as a candidate gene for autism spectrum disorder.
Duplication
Paternally inherited cis-regulatory structural variants are associated with autism.
Deletion
Cases
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
battaglia_13_DD/ID/ASD_discovery_cases
Patients affected by DD/ID/ASD/dysmorphic features of unknown origin observed at the Stella Maris Institute (Pisa, Italy) between May 2004 & December 2011
349
34 cases with borderline intellectual disability, 237 cases with mixed intellectual disability, 78 cases with intellectual disability and ASD (cases referred with a provisional diagnosis of ASD evaluated with ADI-R and ADOS-G)
Range, 5 mos.-19 yrs.
63.9% Male
131000
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
22888
1
0
1
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
175455
0
1
1
levy_11_ASD_discovery_cases
Autistic probands from 887 families from the Simons Simplex Collection (SSC)
858
ASD
87.06% Male
78894
0
1
1
lionel_13_ASD/SCZ/EP_discovery_cases
Patient cohort composed of 1158 Canadian ASD patients, 72 Austrian ASD patients, 450 Canadian schizophrenia patients, and a clinical dataset of 3704 individuals with primary diagnosis of ASD and/or seizure disorder referred for clinical microarray testing at the Mayo Clinic cytogenetics laboratory.
5384
ASD (n=1230), schizophrenia (n=450), and ASD and/or seizure disorder (n=3704). Canadian and Austrian ASD patients met criteria for ASD diagnosis based on ADI-R and/or ADOS.
NA
NA
19566
1
0
1
sajan_13_ACC/CBLH/PMG_discovery_cases
Individuals with severe congenital brain malformations [agenesis of the corpus callosum (ACC), cerebellar hypoplasia (CBLH), and/or polymicrogyria (PMG)] and additional neurodevelopmental phenotypes
487
Diagnosis of agenesis of the corpus callosum (ACC), cerebellar hypoplasia (CBLH), and/or polymicrogyria (PMG); additional diagnoses of autism spectrum disorder (ASD), developmental delay (DD), intellectual disability (ID) and/or seizures in some patients
N/A
N/A
191527
1
1
2
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
75187
7
1
8
yin_16_ASD_discovery_cases
Discovery cohort of ASD cases recruited from the Department of Psychiatry of National Taiwan University Hospital (NTUH), Chang Gung Memorial Hospital (CGMH), Taoyuan, and Taoyuan Mental Hospital (TMH), Taiwan.
335
Cases diagnosed with autistic disorder according to DSM-IV and confirmed by using the Chinese version of ADI-R. Cases' autistic behaviors assessed by Social Responsiveness Scale (SRS), and cognitive functions assessed by the Weschler Intelligence Scale for Children-Third Edition (WISC-III) and the Wisconsin Card Sorting Test (WCST).
Mean, 9.39 4.04 yrs.
89.3% Male
40976
0
1
1
Controls
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
bacchelli_20_ASD_discovery_controls
Anonymized DNA samples from Italian individuals with no psychiatric disorders
365
Control
N/A
54.52% Male
58606
0
1
1
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
71287
1
2
3
kanduri_15_ASD_discovery_controls
Unrelated Finnish samples from the cohort of Health 2000 survey from an initial sample of 288 individuals following quality control
269
Controls screened for DSM-IV mental disorders using the Composite International Diagnostic Interview and psychotic disorders using the research version of the Structured Clinical Interview for DSM-IV
N/A
N/A
45309
1
0
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
0
0
0
0
sanders_11_ASD_discovery_controls
Matched siblings of autistic probands from the Simons Simplex Collection (SSC).
872
Controls
Mean, 10.0 yrs.
38368
6
0
6
yin_16_ASD_discovery_controls
Individuals from the Han Chinese Cell and Genome Bank (HCCGB) in Taiwan
1093
Controls
Mean, 68.07 10.12 yrs.
48.0% Male
40976
0
0
0
Cases
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
battaglia_13_DD/ID/ASD_discovery_cases
Italy
aCGH, array SNP
BACs aCGH, Agilent 44K, Agilent 180K, Affymetrix 6.0
FISH, qPCR
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
levy_11_ASD_discovery_cases
aCGH
NimbleGen HD2
HMM
lionel_13_ASD/SCZ/EP_discovery_cases
NA
aCGH, array SNP
Agilent ISCA 44K, Agilent 180K, Affymetrix 6.0
Agilent DNA Analytics, Birdsuite, iPattern, Affymetrix Genotyping Console
None
sajan_13_ACC/CBLH/PMG_discovery_cases
81.31% Caucasian
Solid phase hybridization
Illumina InfiniumII HumanHap610
PennCNV
qPCR
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
yin_16_ASD_discovery_cases
Han Chinese
Array SNP
Affymetrix 6.0
Affymetrix Genotyping Console v.4.1
None
Controls
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
bacchelli_20_ASD_discovery_controls
Italian
Solid phase hybridization
Illumina Infinium PsychArray
PennCNV, QuantiSNP, CNVPartition
None
engchuan_15_ASD_discovery_controls
Caucasian
Solid phase hybridization
Illumina 1M
None
kanduri_15_ASD_discovery_controls
Finnish
Solid phase hybridization
Illumina Infinium HD Human610-Quad BeadChip
QuantiSNP, PennCNV
Illumina BeadStudio
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
yin_16_ASD_discovery_controls
Han Chinese
Array SNP
Affymetrix 6.0
Affymetrix Genotyping Console v.4.1
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
battaglia_13_DD/ID/ASD_discovery_cases-case69
6 yrs. 1 mo.
M
Autism and developmental delay/intellectual disability
Autism: yes (autism). Epilepsy: no. Dysmorphic features: yes.
Severe DD/ID
172062953
172194211
131259
GRCh38
Deletion
Yes
brandler_18_ASD_replication_cases-caseSSC05026
N/A
F
ASD
Case from SSC_phase2 cohort
169925638
169948525
22888
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case4167_1
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
170878772
171054200
175429
GRCh38
Duplication
No
levy_11_ASD_discovery_cases-12041.p1
NA
M
ASD
NA
NA
172656894
172735787
78894
GRCh38
Duplication
No
lionel_13_ASD/SCZ/EP_discovery_cases-proband5
24 yrs.
M
Schizophrenia
Diagnosis of chronic schizophrenia confirmed through use of detailed psychiatric assessment, including use of a modified version of Strructed Clinical Interviews for DSM-III-R for Axis I disorder. Developmental milestones: no evidence of developmental delay. Behavioral/psychiatric evaluation: increasing anxiety, preoccupation, and paranoia at 23 years (responded well ti a few months of treatment with chloropromazine); admitted to hospital for schizophrenia at 24 years of age; improved with electroconvulsive therapy and was discharged for two months; following two additional hospitalizations, case has been relatively stable on standard antipsychotic medication regiment with an adjuvant antidepressant for many years. no evidence of autistic features. Epilepsy/seizures: no history of seizures. Dysmorphic features: no significant dysmorphology. Family history: non-consanguineous parents; no known history of neuropsychiatric illness or seizures in parents or siblings; significant history of schizophrenia in paternal extended family.
Full Scale IQ of 92 (Wechsler Adult Intelligence Scale/WAIS) at 24 years of age.
171064316
171083881
19566
GRCh38
Deletion
No
sajan_13_ACC/CBLH/PMG_discovery_cases-case1024-0
N/A
N/A
ACC-CBLH
Diagnosis of agenesis of the corpus callosum (ACC) and cerebellar hypoplasia (CBLH). ASD: no. Seizures: yes.
Developmental delay: yes. Intellectual disability: unknown.
170156169
170347695
191527
GRCh38
Deletion
Yes
sajan_13_ACC/CBLH/PMG_discovery_cases-caseLR05-258
N/A
N/A
CBLH
Diagnosis of cerebellar hypoplasia (CBLH).
172690141
172728004
37864
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11619.p1
5.5
M
Autism
NA
Full-scale IQ, 107; non-verbal IQ, 105; verbal IQ, 108
171292256
171299387
7132
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11724.p1
10.9
M
Autism
NA
Full-scale IQ, 59; non-verbal IQ, 56; verbal IQ, 67
169362918
169389075
26158
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11938.p1
4.5
M
Autism
NA
Full-scale IQ, 88; non-verbal IQ, 95; verbal IQ, 82
171143671
171152641
8971
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11978.p1
9.1
F
ASD
NA
Full-scale IQ, 111; non-verbal IQ, 109; verbal IQ, 113
171298985
171299387
403
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
172657047
172732234
75188
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12202.p1
11.3
M
Autism
NA
Full-scale IQ, 115; non-verbal IQ, 106; verbal IQ, 128
169362918
169389075
26158
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12540.p1
6.9
F
Autism
NA
Full-scale IQ, 104; non-verbal IQ, 104; verbal IQ, 105
169925658
169947905
22248
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12614.p1
6.1
M
Autism
NA
Full-scale IQ, 94; non-verbal IQ, 97; verbal IQ, 93
169362918
169389075
26158
GRCh38
Deletion
No
yin_16_ASD_discovery_cases-case235
N/A
N/A
ASD
Cases diagnosed with autistic disorder according to DSM-IV and confirmed by using the Chinese version of ADI-R.
173144587
173185562
40976
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
bacchelli_20_ASD_discovery_controls-control10121
N/A
F
Control
Control
170909677
170968282
58606
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlB510594_1007854750
N/A
N/A
Control
No previous psychiatric history
172660947
172732234
71288
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlHABC_900265_900265
N/A
N/A
Control
No previous psychiatric history
171351820
171387019
35200
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlHABC_900659_900659
N/A
N/A
Control
No previous psychiatric history
169911320
169941702
30383
GRCh38
Deletion
No
kanduri_15_ASD_discovery_controls-control_split1302
N/A
N/A
Control
Control screened for DSM-IV mental disorders using the Composite International Diagnostic Interview and psychotic disorders using the research version of the Structured Clinical Interview for DSM-IV
170283091
170328399
45309
Unknown
Deletion
No
sanders_11_ASD_discovery_controls-11724.s1
14.5
F
Control (matched sibling)
NA
NA
169362918
169389075
26158
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12041.s1
4.3
M
Control (matched sibling)
NA
NA
169362918
169389075
26158
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12373.s1
11.7
F
Control (matched sibling)
NA
NA
171292256
171309040
16785
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12638.s1
17.8
F
Control (matched sibling)
NA
NA
169362918
169401286
38369
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12653.s1
8.5
F
Control (matched sibling)
NA
NA
170637709
170668602
30894
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12664.s1
7.9
M
Control (matched sibling)
NA
NA
170637709
170668602
30894
GRCh38
Deletion
No
Cases
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
battaglia_13_DD/ID/ASD_discovery_cases-case69
FISH or qPCR
Paternal
Paternal
Possible multi-generational
Segregated
EFCAB9,STK10
brandler_18_ASD_replication_cases-caseSSC05026
No validation step reported
Maternal
DOCK2,INSYN2B
engchuan_15_ASD_discovery_cases-case4167_1
Unknown
RANBP17
levy_11_ASD_discovery_cases-12041.p1
Paternal
Simplex
Segregated
MIR5003,NEURL1B
lionel_13_ASD/SCZ/EP_discovery_cases-proband5
Unknown
Simplex
Unknown
RANBP17
sajan_13_ACC/CBLH/PMG_discovery_cases-case1024-0
qPCR
Maternal
Unknown
Unknown
LINC01366,LINC01187,C5orf58,LCP2
sajan_13_ACC/CBLH/PMG_discovery_cases-caseLR05-258
Not tested by qPCR
Unknown
Unknown
Unknown
NEURL1B
sanders_11_ASD_discovery_cases-11619.p1
Both parents
Simplex (trio)
NA
RANBP17
sanders_11_ASD_discovery_cases-11724.p1
Unknown
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11938.p1
Unknown
Simplex (trio)
NA
RANBP17
sanders_11_ASD_discovery_cases-11978.p1
Unknown
Simplex (trio)
NA
RANBP17
sanders_11_ASD_discovery_cases-12041.p1
Paternal
Simplex (quad-proband matched)
Segregated
MIR5003,NEURL1B
sanders_11_ASD_discovery_cases-12202.p1
Unknown
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12540.p1
Maternal
Simplex (quad-proband matched)
Segregated
DOCK2,INSYN2B
sanders_11_ASD_discovery_cases-12614.p1
Unknown
Simplex (trio)
NA
yin_16_ASD_discovery_cases-case235
Unknown
Unknown
Unknown
BNIP1
Controls
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
bacchelli_20_ASD_discovery_controls-control10121
Unknown
RANBP17
engchuan_15_ASD_discovery_controls-controlB510594_1007854750
Unknown
MIR5003,NEURL1B
engchuan_15_ASD_discovery_controls-controlHABC_900265_900265
Unknown
RN7SL339P,RPSAP71,SNORA70J,RPL10P8,MIR3912
engchuan_15_ASD_discovery_controls-controlHABC_900659_900659
Unknown
DOCK2,INSYN2B
kanduri_15_ASD_discovery_controls-control_split1302
Unknown
RANBP17
sanders_11_ASD_discovery_controls-11724.s1
Unknown
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12041.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12373.s1
Unknown
Simplex (quad)
NA
RANBP17
sanders_11_ASD_discovery_controls-12638.s1
Unknown
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12653.s1
Unknown
Simplex (quad)
NA
KCNIP1
sanders_11_ASD_discovery_controls-12664.s1
Unknown
Simplex (quad)
NA
KCNIP1
No Animal Model Data Available