3p26.3-p25.3CNV Type: Deletion
Largest CNV size: 11300000 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
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
The clinical utility of molecular karyotyping using high-resolution array-comparative genomic hybridization.
Deletion
Prevalence and phenotypic impact of rare potentially damaging variants in autism spectrum disorder
Deletion
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
11037306
2
0
2
mahjani_21_ASD_discovery_cases
Study participants in the PAGES cohort, a large ongoing population-based cohort study in Sweden that started in 2012 with the overall aim to identify possible genetic and environmental risk factors for ASD.
996
Cases diagnosed with ASD according to ICD-9 and ICD-10 criteria.
Average age at diagnosis, 8.2 yrs.
70% Male
9040169
1
0
1
tzetis_12_DD/ID_discovery_cases
Patients referred for aCGH analysis from 2008-present
334
Cases presented with at least one of the following clinical indications: developmental delay (DD), intellectual disability (ID), dysmorphic features, unique or multiple congenital anomalies (MCA), growth disorder, behavior disorder, and/or autism (ASD)
Range, 1 month-38 years (median age of 4 years)
11300000
1
0
1
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
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
mahjani_21_ASD_discovery_cases
Sweden
WES
Infinium OmniExpress Exome
PennCNV
NA
None
tzetis_12_DD/ID_discovery_cases
Greece
aCGH
Agilent 244K, Agilent 4x180K
ADM-1
Agilent Feature Extraction V9.1, Agilent CGH Analytics V4.0, Illumina GenomeStudio V2011.1
None
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
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-ISCA00002024
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
63843
9507969
9444127
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002620
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
52266
11089569
11037304
GRCh38
Deletion
Yes
mahjani_21_ASD_discovery_cases-case225
NA
F
ASD
Diagnosis of ASD according to ICD-9 and ICD-10 criteria.
19816
9059984
9040169
GRCh38
Deletion
No
tzetis_12_DD/ID_discovery_cases-case70
F
DD/ID
Epicanthus, microphthalmia, flattened nasal bridge, ptosis of eyelids, posteriorly rotated low set ears, craniosyneostosis, overlapping toes, corpus callosum, heart defect
22332
11315381
11293050
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
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002024
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
RNU6-1194P,RPS8P6,RPSAP32,RN7SL120P,CRB3P1,RPL23AP38,RPL23AP39,RPL21P17,RN7SKP144,HINT2P1,DNAJC19P4,PNPT1P1,MRPS10P2,ITPR1-DT,RNF10P1,UBTFL8,MIR4790,RN7SL553P,MRPS36P1,GRM7-AS2,RNU4ATAC17P,SRGAP3-AS1,SRGAP3-AS2,SRGAP3-AS3,PGAM1P4,CHL1-AS2,CHL1-AS1,CNTN4-AS2,CNTN4-AS1,IL5RA,SETMAR,EGOT,BHLHE40-AS1,ARL8B,EDEM1,GRM7-AS1,OR7E122P,OXTR,SRGAP3-AS4,THUMPD3-AS1,THUMPD3,LHFPL4,CHL1,LINC01266,CNTN6,CNTN4,LRRN1,ITPR1,BHLHE40,GRM7-AS3,LMCD1,SSUH2,CAV3,RAD18,SRGAP3,TRNT1,CRBN,SUMF1,GRM7,SETD5,LMCD1-AS1
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002620
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
RNU6-1194P,RPS8P6,RPSAP32,RN7SL120P,CRB3P1,RPL23AP38,RPL23AP39,RPL21P17,RN7SKP144,HINT2P1,DNAJC19P4,PNPT1P1,MRPS10P2,ITPR1-DT,RNF10P1,UBTFL8,MIR4790,RN7SL553P,MRPS36P1,GRM7-AS2,RNU4ATAC17P,SRGAP3-AS1,SRGAP3-AS2,SRGAP3-AS3,PGAM1P4,RPUSD3,JAGN1,RNU6-882P,PRRT3,PRRT3-AS1,CYCSP10,RNU6-670P,CYCSP11,LINC00852,MIR378B,MIR885,ATP2B2-IT2,LINC00606,CHL1-AS2,CHL1-AS1,CNTN4-AS2,CNTN4-AS1,IL5RA,SETMAR,EGOT,BHLHE40-AS1,ARL8B,EDEM1,GRM7-AS1,OR7E122P,OXTR,SRGAP3-AS4,THUMPD3-AS1,THUMPD3,LHFPL4,DUSP5P2,CPNE9,BRPF1,OGG1,CAMK1,TADA3,ARPC4,CIDEC,IL17RE,IL17RC,CRELD1,EMC3,EMC3-AS1,BRK1,VHL,TATDN2,GHRL,GHRLOS,SEC13,ATP2B2-IT1,CHL1,LINC01266,CNTN6,CNTN4,LRRN1,ITPR1,BHLHE40,GRM7-AS3,LMCD1,SSUH2,CAV3,RAD18,SRGAP3,MTMR14,ARPC4-TTLL3,TTLL3,FANCD2,FANCD2OS,IRAK2,SLC6A11,SLC6A1,SLC6A1-AS1,TRNT1,CRBN,SUMF1,GRM7,SETD5,ATP2B2,LMCD1-AS1
mahjani_21_ASD_discovery_cases-case225
Unknown
CAV3,CNTN6,TRNT1,SSUH2,CRBN,LMCD1,ARL8B,RAD18,LRRN1,OR7E122P,CNTN4,IL5RA,GRM7,SUMF1,MRPS10P2,MRPS36P1,RPL23AP38,RPSAP32,UBTFL8,RPL21P17,EGOT,OXTR,ITPR1,RPS8P6,PNPT1P1,LMCD1-AS1,RPL23AP39,RNF10P1,BHLHE40-AS1,MIR4790,CNTN4-AS1,ITPR1-DT,SRGAP3-AS1,GRM7-AS1,CNTN4-AS2,CHL1-AS1,LINC01266,CHL1-AS2,GRM7-AS3,HINT2P1,LINC01986,GRM7-AS2,RN7SKP144,SETMAR,CRB3P1,RN7SL120P,DNAJC19P4,RNU4ATAC17P,RN7SL553P,RNU6-1194P,BHLHE40,SRGAP3,EDEM1,CHL1
tzetis_12_DD/ID_discovery_cases-case70
Unknown
Unknown
LINC01986,RNU6-1194P,RPS8P6,RPSAP32,RN7SL120P,CRB3P1,RPL23AP38,RPL23AP39,RPL21P17,RN7SKP144,HINT2P1,DNAJC19P4,PNPT1P1,MRPS10P2,ITPR1-DT,RNF10P1,UBTFL8,MIR4790,RN7SL553P,MRPS36P1,GRM7-AS2,RNU4ATAC17P,SRGAP3-AS1,SRGAP3-AS2,SRGAP3-AS3,PGAM1P4,RPUSD3,JAGN1,RNU6-882P,PRRT3,PRRT3-AS1,CYCSP10,RNU6-670P,CYCSP11,LINC00852,MIR378B,MIR885,ATP2B2-IT2,LINC00606,CHCHD4P4,CHL1-AS2,CHL1-AS1,CNTN4-AS2,CNTN4-AS1,IL5RA,SETMAR,EGOT,BHLHE40-AS1,ARL8B,EDEM1,GRM7-AS1,OR7E122P,OXTR,SRGAP3-AS4,THUMPD3-AS1,THUMPD3,LHFPL4,DUSP5P2,CPNE9,BRPF1,OGG1,CAMK1,TADA3,ARPC4,CIDEC,IL17RE,IL17RC,CRELD1,EMC3,EMC3-AS1,BRK1,VHL,TATDN2,GHRL,GHRLOS,SEC13,ATP2B2-IT1,CHL1,LINC01266,CNTN6,CNTN4,LRRN1,ITPR1,BHLHE40,GRM7-AS3,LMCD1,SSUH2,CAV3,RAD18,SRGAP3,MTMR14,ARPC4-TTLL3,TTLL3,FANCD2,FANCD2OS,IRAK2,SLC6A11,SLC6A1,SLC6A1-AS1,HRH1,TRNT1,CRBN,SUMF1,GRM7,SETD5,ATP2B2,ATG7,LMCD1-AS1
Controls
No Control Data Available
No Animal Model Data Available