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3p26.3-p26.1CNV Type: Deletion


Largest CNV size: 6100000 bp

Statistics Box:
Number of Reports: 4



Summary Information

Summary statement in development

Additional Locus Information

Genome browsers

USCS Symbol             NCBI Symbol

Decipher

            Decipher Symbol

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
Large-scale discovery of novel genetic causes of developmental disorders.
Duplication
Chromosomal microarray in clinical diagnosis: a study of 337 patients with congenital anomalies and developmental delays or intellectual disability.
Duplication

Cases

Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
 fitzgerald_14_ASD/DD/ID_discovery_cases
 Children recruited through all 24 regional genetics services of the UK National Health Service and Republic of Ireland as part of the Deciphering Developmental Disorders Study
 1133
 Cases affected by severe, undiagnosed developmental disorders; most common phenotypes include developmental delay, intellectual disability, specific learning disability, autism, seizures, microcephaly, and dysmorphic features.
 Median age, 5.5 years
 N/A
 5721445
 0
 1
 1
 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
 8529774
 4
 0
 4
 sansovic_17_DD/ID/ASD_discovery_cases
 Unrelated patients from Croatia referred to the Department of Medical Genetics and Reproductive Health, Children's Hospital Zagreb, University of Zagreb School of Medicine
 337
 Cases diagnosed by clinical geneticists or pediatricians to have developmental delay/intellectual disability (DD/ID), ASD, congenital anomalies, or a combination of those features
 Mean, 7 years (range, 1 month-25 years)
 N/A
 6801000
 0
 1
 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)
 
 6100000
 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
 fitzgerald_14_ASD/DD/ID_discovery_cases
  UK and Ireland
 aCGH, WES
  Agilent 2x1M, Agilent Exome+
 
 Cnsolidate, CoNVex
 None
 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
 sansovic_17_DD/ID/ASD_discovery_cases
  Croatia
 aCGH
  Agilent SurePrint G3 Unrestricted CGH ISCA v2
 
 Agilent Feature Extraction (v12.0), Agilent CytoGenomics (v3.0 and v4.0)
 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
  fitzgerald_14_ASD/DD/ID_discovery_cases-case000032
 N/A
 N/A
 N/A
 Clinical profile N/A; CNV from Supplementary Table S38
 N/A
 20396
 5741832
  5721437
 GRCh38
 Duplication
 No
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000836
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 1984526
 6852981
  4868456
 GRCh38
 Deletion
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001917
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 63843
 6977502
  6913660
 GRCh38
 Deletion
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002465
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 63843
 8258109
  8194267
 GRCh38
 Deletion
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004381
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 52266
 8582037
  8529772
 GRCh38
 Deletion
 Yes
  sansovic_17_DD/ID/ASD_discovery_cases-case9
 18 yrs.
 F
 Developmental delay/intellectual disability
 Developmental delay/intellectual disability, Congenital anomalies, Dysmorphism
 
 52266
 6852981
  6800716
 GRCh38
 Duplication
 No
  tzetis_12_DD/ID_discovery_cases-case80
 
 M
 ASD + Epilepsy
 Seizures, corpus callosum dysgenesis, sagittal artery thrombosis, ASD
 
 77266
 6257867
  6180602
 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
 fitzgerald_14_ASD/DD/ID_discovery_cases-case000032
 
 
 De novo
 Unknown
 Unknown
 LINC01986,RNU6-1194P,RPS8P6,RPSAP32,RN7SL120P,CRB3P1,RPL23AP38,RPL23AP39,RPL21P17,RN7SKP144,HINT2P1,DNAJC19P4,PNPT1P1,MRPS10P2,ITPR1-DT,RNF10P1,UBTFL8,MIR4790,RN7SL553P,CHL1-AS2,CHL1-AS1,CNTN4-AS2,CNTN4-AS1,IL5RA,SETMAR,EGOT,BHLHE40-AS1,ARL8B,EDEM1,CHL1,LINC01266,CNTN6,CNTN4,LRRN1,ITPR1,BHLHE40,TRNT1,CRBN,SUMF1
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000836
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Unknown
 Unknown
 Unknown
 RN7SKP144,HINT2P1,DNAJC19P4,PNPT1P1,MRPS10P2,ITPR1-DT,RNF10P1,UBTFL8,MIR4790,RN7SL553P,MRPS36P1,CNTN4-AS2,CNTN4-AS1,IL5RA,SETMAR,EGOT,BHLHE40-AS1,ARL8B,EDEM1,CNTN4,LRRN1,ITPR1,BHLHE40,GRM7-AS3,TRNT1,CRBN,SUMF1,GRM7
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001917
 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,CHL1-AS2,CHL1-AS1,CNTN4-AS2,CNTN4-AS1,IL5RA,SETMAR,EGOT,BHLHE40-AS1,ARL8B,EDEM1,CHL1,LINC01266,CNTN6,CNTN4,LRRN1,ITPR1,BHLHE40,GRM7-AS3,TRNT1,CRBN,SUMF1,GRM7
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002465
 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,CHL1-AS2,CHL1-AS1,CNTN4-AS2,CNTN4-AS1,IL5RA,SETMAR,EGOT,BHLHE40-AS1,ARL8B,EDEM1,GRM7-AS1,CHL1,LINC01266,CNTN6,CNTN4,LRRN1,ITPR1,BHLHE40,GRM7-AS3,TRNT1,CRBN,SUMF1,GRM7,LMCD1-AS1
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004381
 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,CHL1-AS2,CHL1-AS1,CNTN4-AS2,CNTN4-AS1,IL5RA,SETMAR,EGOT,BHLHE40-AS1,ARL8B,EDEM1,GRM7-AS1,CHL1,LINC01266,CNTN6,CNTN4,LRRN1,ITPR1,BHLHE40,GRM7-AS3,LMCD1,TRNT1,CRBN,SUMF1,GRM7,LMCD1-AS1
 
 sansovic_17_DD/ID/ASD_discovery_cases-case9
 
 
 Maternal
 
 
 RNU6-1194P,RPS8P6,RPSAP32,RN7SL120P,CRB3P1,RPL23AP38,RPL23AP39,RPL21P17,RN7SKP144,HINT2P1,DNAJC19P4,PNPT1P1,MRPS10P2,ITPR1-DT,RNF10P1,UBTFL8,MIR4790,RN7SL553P,MRPS36P1,CHL1-AS2,CHL1-AS1,CNTN4-AS2,CNTN4-AS1,IL5RA,SETMAR,EGOT,BHLHE40-AS1,ARL8B,EDEM1,CHL1,LINC01266,CNTN6,CNTN4,LRRN1,ITPR1,BHLHE40,GRM7-AS3,TRNT1,CRBN,SUMF1,GRM7
 
 tzetis_12_DD/ID_discovery_cases-case80
 
 
 Unknown
 Unknown
 
 RNU6-1194P,RPS8P6,RPSAP32,RN7SL120P,CRB3P1,RPL23AP38,RPL23AP39,RPL21P17,RN7SKP144,HINT2P1,DNAJC19P4,PNPT1P1,MRPS10P2,ITPR1-DT,RNF10P1,UBTFL8,MIR4790,RN7SL553P,CHL1-AS2,CHL1-AS1,CNTN4-AS2,CNTN4-AS1,IL5RA,SETMAR,EGOT,BHLHE40-AS1,ARL8B,EDEM1,CHL1,LINC01266,CNTN6,CNTN4,LRRN1,ITPR1,BHLHE40,TRNT1,CRBN,SUMF1
 

Controls

No Control Data Available
No Animal Model Data Available
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