3q26.33-q28CNV Type: Deletion
Largest CNV size: 5740475 bp
Statistics Box:
Number of Reports: 2
Number of Reports: 2
Summary Information
Rare singleton deletion within this region was found in a case from a study of 15,749 individuals from the International Standards for Cytogenomic Arrays (ISCA) consortium with unexplained developmental delay, intellectual disability, dysmorphic features, multiple congenital anomalies, autism spectrum disorders, or clinical features suggestive of a chromosomal syndrome (Kaminsky et al., 2011).
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
Detection of clinically relevant copy-number variants by exome sequencing in a large cohort of genetic disorders.
Deletion
Minor Reports
Title
Author, Year
Report Class
CNV Type
No Minor Reports
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
5740475
1
0
1
pfundt_16_NDD_discovery_cases
Subset of a cohort of 2,603 patients affected by genetic disorders for which exome seqeuncing was performed in a diagnostic setting
1215
Neurodevelopmental disorders
N/A
N/A
8385941
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
pfundt_16_NDD_discovery_cases
N/A
WES
Solid5500xl, IlluminaHiSeq2000
CoNIFER
Array SNP (Affymetrix CytoScan HD)
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-ISCA00004511
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
182678453
188418928
5740476
GRCh38
Deletion
Yes
pfundt_16_NDD_discovery_cases-case76
N/A
N/A
NDD
Disease cohort: neurodevelopmental disorder. Description: 8MB deletion; de novo
182942770
191328710
8385941
GRCh38
Deletion
Yes
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-ISCA00004511
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
MCCC1-AS1,RNA5SP151,SNORA63D,YEATS2-AS1,MAP6D1,RPSAP31,MIR4448,EEF1A1P8,HTR3D,HTR3E-AS1,HTR3E,HSP90AA5P,AP2M1,MIR1224,ALG3,CAMK2N2,SNORD66,POLR2H,THPO,LINC01839,MAGEF1,EIF2S2P2,MIR5588,MIR548AQ,ETV5-AS1,LINC02051,CRYGS,RNU6-1105P,GPS2P2,EIF4A2,SNORD2,MIR1248,SNORA81,SNORA63,SNORA4,LINC02043,ADIPOQ-AS1,RPS20P14,RTP1,RTP4,SST,RTP2,FLJ42393,LAMP3,B3GNT5,LINC00888,KLHL6-AS1,KLHL24,PARL,CYP2AB1P,ABCC5,ABCC5-AS1,HTR3C,EIF2B5,ABCF3,VWA5B2,EEF1AKMT4,PSMD2,EIF4G1,FAM131A,CLCN2,CHRD,EPHB3,LINC02069,C3orf70,EHHADH-AS1,RPL4P4,TMEM41A,LIPH,TRA2B,NMRAL2P,ETV5,LINC02020,LINC02052,TBCCD1,DNAJB11,AHSG,HRG,KNG1,PSMD10P2,RFC4,ADIPOQ,MASP1,LINC02041,BCL6,LINC01991,LPP-AS2,ATP11B,DCUN1D1,MCCC1,MCF2L2,YEATS2,DVL3,EEF1AKMT4-ECE2,ECE2,LINC02054,VPS8,EHHADH,MAP3K13,IGF2BP2,IGF2BP2-AS1,DGKG,ST6GAL1,RPL39L,KLHL6,SENP2,FETUB,LPP,LINC01840
pfundt_16_NDD_discovery_cases-case76
Array SNP (Affymetrix CytoScan HD)
De novo
MCCC1-AS1,RNA5SP151,SNORA63D,YEATS2-AS1,MAP6D1,RPSAP31,MIR4448,EEF1A1P8,HTR3D,HTR3E-AS1,HTR3E,HSP90AA5P,AP2M1,MIR1224,ALG3,CAMK2N2,SNORD66,POLR2H,THPO,LINC01839,MAGEF1,EIF2S2P2,MIR5588,MIR548AQ,ETV5-AS1,LINC02051,CRYGS,RNU6-1105P,GPS2P2,EIF4A2,SNORD2,MIR1248,SNORA81,SNORA63,SNORA4,LINC02043,ADIPOQ-AS1,RPS20P14,RTP1,RTP4,SST,RTP2,FLJ42393,MIR28,TPRG1-AS1,TPRG1-AS2,MIR944,MTAPP2,RNU6-1109P,NMNAT1P3,GCNT1P3,RN7SKP296,LINC02013,CCT6P4,LAMP3,B3GNT5,LINC00888,KLHL6-AS1,KLHL24,PARL,CYP2AB1P,ABCC5,ABCC5-AS1,HTR3C,EIF2B5,ABCF3,VWA5B2,EEF1AKMT4,PSMD2,EIF4G1,FAM131A,CLCN2,CHRD,EPHB3,LINC02069,C3orf70,EHHADH-AS1,RPL4P4,TMEM41A,LIPH,TRA2B,NMRAL2P,ETV5,LINC02020,LINC02052,TBCCD1,DNAJB11,AHSG,HRG,KNG1,PSMD10P2,RFC4,ADIPOQ,MASP1,LINC02041,BCL6,LINC01991,LPP-AS2,LPP-AS1,P3H2-AS1,CLDN16,GMNC,UTS2B,DCUN1D1,MCCC1,MCF2L2,YEATS2,DVL3,EEF1AKMT4-ECE2,ECE2,LINC02054,VPS8,EHHADH,MAP3K13,IGF2BP2,IGF2BP2-AS1,DGKG,ST6GAL1,RPL39L,TPRG1,P3H2,CLDN1,TMEM207,IL1RAP,OSTN,OSTN-AS1,KLHL6,SENP2,FETUB,LPP,TP63,LINC01840
Controls
No Control Data Available
No Animal Model Data Available