1p36.22-p36.21CNV Type: Duplication
Largest CNV size: 4482100 bp
Statistics Box:
Number of Reports: 5
Number of Reports: 5
Summary Information
Summary statement in development
Additional Locus Information
References
Major Reports
Title
Author, Year
Report Class
CNV Type
Mapping autism risk loci using genetic linkage and chromosomal rearrangements.
Duplication
An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabili...
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.
Duplication
Rare de novo and transmitted copy-number variation in autistic spectrum disorders.
Duplication
The landscape of copy number variations in Finnish families with autism spectrum disorders.
Duplication
Cases
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
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
3445844
1
2
3
kanduri_15_ASD_discovery_cases
Autistic cases from an initial sample of 83 Finnish families comprising 257 family members following quality control
80
Diagnosis of ASD based on DSM-IV, 4th edition, or ICD-10 criteria; patients screened based on Childhood Autism Rating Scale (CARS), Asperger Syndrome Screening Questionnaire, and Asperger's Syndrome Diagnostic Interview.
N/A
N/A
571298
0
1
1
levy_11_ASD_discovery_cases
Autistic probands from 887 families from the Simons Simplex Collection (SSC)
858
ASD
87.06% Male
58389
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
52475
0
1
1
szatmari_07_ASD_discovery_cases
ASD patients from 173 families with at least two affected individuals from AGP
196
Patients diagnosed with ASD based on ADI-R and ADOS
4482100
0
2
2
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
87490
0
1
1
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
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
380429
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
58389
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.
81514
0
1
1
Cases
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
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
kanduri_15_ASD_discovery_cases
Finnish
Solid phase hybridization
Illumina Human OmniExpress-12v1.0 BeadChip
QuantiSNP, PennCNV
Illumina BeadStudio
None
levy_11_ASD_discovery_cases
aCGH
NimbleGen HD2
HMM
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
szatmari_07_ASD_discovery_cases
Array SNP
Affymetrix 10K (v2)
HMM
dChip
Karyotyping, qPCR, aCGH, array SNP, overlap with Mendelian genotype errors
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
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
Cases
Patient ID
Author, Year
Age
Gender
Primary Diagnosis
Clinical Profile
Cognitive Profile
CNV Start
CNV End
CNV Size
Genome Build
Type Method
Validation
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002267
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
11654070
12768656
1114587
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004630
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
9406722
12852772
3446051
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005424
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
12149586
13111056
961471
GRCh38
Duplication
Yes
kanduri_15_ASD_discovery_cases-case3087
N/A
N/A
ASD
Diagnosis of ASD based on DSM-IV, 4th edition, or ICD-10 criteria; patient screened based on Childhood Autism Rating Scale (CARS), Asperger Syndrome Screening Questionnaire, and/or Asperger's Syndrome Diagnostic Interview.
12342599
12913896
571298
Unknown
Duplication
No
levy_11_ASD_discovery_cases-11512.p1
NA
M
ASD
NA
NA
12577007
12635418
58412
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11512.p1
5.7
M
Autism
NA
Full-scale IQ, 33; non-verbal IQ, 43; verbal IQ, 22
12580622
12633119
52498
GRCh38
Duplication
No
szatmari_07_ASD_discovery_cases-NAAR009-H10-8250-111
NA
ASD
NA
NA
10937177
15341798
4404622
GRCh38
Duplication
Yes
szatmari_07_ASD_discovery_cases-NAAR051-F7-HI2612
NA
ASD
NA
NA
10937177
15341798
4404622
GRCh38
Duplication
Yes
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-controlB556806_1007854703
N/A
N/A
Control
No previous psychiatric history
12539396
12626906
87511
GRCh38
Duplication
No
kanduri_15_ASD_discovery_controls-control_split511
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
12533468
12913896
380429
Unknown
Duplication
No
levy_11_ASD_discovery_controls-11512.s1
NA
F
Control
NA
NA
12577007
12635418
58412
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11512.s1
4.3
F
Control (matched sibling)
NA
NA
12548144
12629686
81543
GRCh38
Duplication
No
Cases
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002267
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
FBXO44,NPPA,NPPB,RNU5E-1,RNU5E-4P,KIAA2013,MIR6729,RN7SL649P,RNU6-777P,RPL23AP89,MIR7846,MIR4632,RPL10P17,SNORA59A,RNU6ATAC18P,MIR6730,AADACL3,FBXO2,MAD2L2,DRAXIN,AGTRAP,C1orf167,CLCN6,PLOD1,MFN2,MIIP,TNFRSF8,AADACL4,C1orf158,FBXO6,MTHFR,TNFRSF1B,VPS13D,DHRS3
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004630
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
RNA5SP40,PIK3CD-AS1,MZT1P1,RN7SKP269,MIR5697,PGAM1P11,RNU6-828P,RNU6-37P,RN7SL731P,CORT,RN7SL614P,HSPE1P24,CFL1P6,TARDBP,MTOR-AS1,RNU6-537P,RNU6-291P,RPL39P6,UBE2V2P3,MTCYBP45,LINC01647,FBXO44,NPPA,NPPB,RNU5E-1,RNU5E-4P,KIAA2013,MIR6729,RN7SL649P,RNU6-777P,RPL23AP89,MIR7846,MIR4632,RPL10P17,SNORA59A,RNU6ATAC18P,MIR6730,AADACL3,PRAMEF12,LINC01784,PRAMEF30P,HNRNPCL1,TMEM201,PIK3CD-AS2,CLSTN1,CTNNBIP1,LZIC,RBP7,PGD,CENPS-CORT,CENPS,DFFA,C1orf127,MASP2,SRM,EXOSC10,ANGPTL7,UBIAD1,FBXO2,MAD2L2,DRAXIN,AGTRAP,C1orf167,CLCN6,PLOD1,MFN2,MIIP,TNFRSF8,AADACL4,C1orf158,PRAMEF1,PRAMEF11,SLC25A33,PIK3CD,NMNAT1,UBE4B,KIF1B,CASZ1,MTOR,FBXO6,MTHFR,TNFRSF1B,VPS13D,PEX14,DISP3,DHRS3
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005424
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
MIR7846,MIR4632,RPL10P17,SNORA59A,RNU6ATAC18P,MIR6730,AADACL3,PRAMEF12,LINC01784,PRAMEF30P,HNRNPCL1,PRAMEF4,PRAMEF7,RNU6-1072P,PRAMEF28P,PRAMEF27,HNRNPCL3,PRAMEF34P,PRAMEF35P,AADACL4,C1orf158,PRAMEF1,PRAMEF11,PRAMEF2,PRAMEF10,PRAMEF29P,PRAMEF6,PRAMEF25,TNFRSF1B,VPS13D,DHRS3
kanduri_15_ASD_discovery_cases-case3087
Paternal
Unknown
Unknown
AADACL3,AADACL4,C1orf158,DHRS3,HNRNPCL1,LOC649330,PRAMEF1,PRAMEF11,PRAMEF12,VPS13D
levy_11_ASD_discovery_cases-11512.p1
Paternal
Simplex
Not segregated
MIR6730,DHRS3
sanders_11_ASD_discovery_cases-11512.p1
Paternal
Simplex (quad-proband matched)
Not segregated
DHRS3
szatmari_07_ASD_discovery_cases-NAAR009-H10-8250-111
Karyotyping, qPCR, aCGH, array SNP, or overlap with Mendelian genotype errors
Unknown
NA
NA
CFL1P6,TARDBP,MTOR-AS1,RNU6-537P,RNU6-291P,RPL39P6,UBE2V2P3,MTCYBP45,LINC01647,FBXO44,NPPA,NPPB,RNU5E-1,RNU5E-4P,KIAA2013,MIR6729,RN7SL649P,RNU6-777P,RPL23AP89,MIR7846,MIR4632,RPL10P17,SNORA59A,RNU6ATAC18P,MIR6730,AADACL3,PRAMEF12,LINC01784,PRAMEF30P,HNRNPCL1,PRAMEF4,PRAMEF7,RNU6-1072P,PRAMEF28P,PRAMEF27,HNRNPCL3,PRAMEF34P,PRAMEF35P,HNRNPCL2,PRAMEF36P,PRAMEF26,HNRNPCL4,PRAMEF13,PRAMEF18,PRAMEF31P,PRAMEF32P,RNU6-771P,PRAMEF8,PRAMEF14,PRAMEF17,BRWD1P1,RNA5SP41,RNU6-1265P,TBCAP2,C1orf195,C1orf127,MASP2,SRM,EXOSC10,ANGPTL7,UBIAD1,FBXO2,MAD2L2,DRAXIN,AGTRAP,C1orf167,CLCN6,PLOD1,MFN2,MIIP,TNFRSF8,AADACL4,C1orf158,PRAMEF1,PRAMEF11,PRAMEF2,PRAMEF10,PRAMEF29P,PRAMEF6,PRAMEF25,PRAMEF9,PRAMEF5,PRAMEF33,PRAMEF15,PRAMEF20,PDPN,KAZN-AS1,TMEM51-AS1,MTOR,FBXO6,MTHFR,TNFRSF1B,VPS13D,PRAMEF19,LRRC38,PRDM2,TMEM51,FHAD1,DISP3,DHRS3,KAZN
szatmari_07_ASD_discovery_cases-NAAR051-F7-HI2612
Karyotyping, qPCR, aCGH, array SNP, or overlap with Mendelian genotype errors
Unknown
NA
NA
CFL1P6,TARDBP,MTOR-AS1,RNU6-537P,RNU6-291P,RPL39P6,UBE2V2P3,MTCYBP45,LINC01647,FBXO44,NPPA,NPPB,RNU5E-1,RNU5E-4P,KIAA2013,MIR6729,RN7SL649P,RNU6-777P,RPL23AP89,MIR7846,MIR4632,RPL10P17,SNORA59A,RNU6ATAC18P,MIR6730,AADACL3,PRAMEF12,LINC01784,PRAMEF30P,HNRNPCL1,PRAMEF4,PRAMEF7,RNU6-1072P,PRAMEF28P,PRAMEF27,HNRNPCL3,PRAMEF34P,PRAMEF35P,HNRNPCL2,PRAMEF36P,PRAMEF26,HNRNPCL4,PRAMEF13,PRAMEF18,PRAMEF31P,PRAMEF32P,RNU6-771P,PRAMEF8,PRAMEF14,PRAMEF17,BRWD1P1,RNA5SP41,RNU6-1265P,TBCAP2,C1orf195,C1orf127,MASP2,SRM,EXOSC10,ANGPTL7,UBIAD1,FBXO2,MAD2L2,DRAXIN,AGTRAP,C1orf167,CLCN6,PLOD1,MFN2,MIIP,TNFRSF8,AADACL4,C1orf158,PRAMEF1,PRAMEF11,PRAMEF2,PRAMEF10,PRAMEF29P,PRAMEF6,PRAMEF25,PRAMEF9,PRAMEF5,PRAMEF33,PRAMEF15,PRAMEF20,PDPN,KAZN-AS1,TMEM51-AS1,MTOR,FBXO6,MTHFR,TNFRSF1B,VPS13D,PRAMEF19,LRRC38,PRDM2,TMEM51,FHAD1,DISP3,DHRS3,KAZN
Controls
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
engchuan_15_ASD_discovery_controls-controlB556806_1007854703
Unknown
RNU6ATAC18P,MIR6730,DHRS3
kanduri_15_ASD_discovery_controls-control_split511
Unknown
AADACL3,AADACL4,C1orf158,DHRS3,HNRNPCL1,LOC649330,PRAMEF1,PRAMEF11,PRAMEF12,VPS13D
levy_11_ASD_discovery_controls-11512.s1
Paternal
Simplex
NA
MIR6730,DHRS3
sanders_11_ASD_discovery_controls-11512.s1
Paternal
Simplex (quad)
NA
RNU6ATAC18P,MIR6730,DHRS3
No Animal Model Data Available