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13q33.3-q34CNV Type: Deletion-Duplication


Largest CNV size: 7715639 bp

Statistics Box:
Number of Reports: 3



Summary Information

CNVs within this region were identified in cases from two recent reports (Kaminsky et al., 2011; Nguyen et al., 2013).

Additional Locus Information

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USCS Symbol             NCBI Symbol

Decipher

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-Duplication
Contribution of copy number variants involving nonsense-mediated mRNA decay pathway genes to neuro-developmental disorders.
Deletion
Confirmation of chromosomal microarray as a first-tier clinical diagnostic test for individuals with developmental delay, intellectual disability, ...
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
 7491737
 3
 2
 5
 nguyen_13_DD/ID/MCA/ASD_discovery_cases
 Patients from five databases: The Developmental Gene Anatomy Project at Harvard Medical School (DGAP, n=200); The Developmental Gene Discovery Project at Georgia Health Sciences University (DGDP, n=120); The National Institute of General Medical Sciences Human Genetic Cell Repository (NIGMS, n=45); Signature Genomic Laboratories Genoglyphix Chromosome Aberration Database (n=45,744); and DECIPHER
 57365
 Predominant cohort diagnosis of developmental delay/intellectual disability and/or mulitple congenital anomalies (MCA); 5 cases with additional diagnosis of autism/ASD
 N/A
 N/A
 7715639
 11
 0
 11
 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
 7000000
 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
 nguyen_13_DD/ID/MCA/ASD_discovery_controls
 Control data from the Database of Genomic Variants (DGV, n=12,145) and a published dataset of 8,329 individuals from Moriarty et al., 1998.
 20474
 Control
 N/A
 N/A
 N/A
 N/A
 N/A
 N/A

Cases

Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
 kaminsky_11_DD/ID/ASD_discovery_cases
  NA
 aCGH
  Agilent 44K or 105K
 
 Feature Extraction & DNA Analytics
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 nguyen_13_DD/ID/MCA/ASD_discovery_cases
  N/A
 aCGH (n=45,744 from Signature Genomic Labs)
  SignatureChip BACs aCGH or SignatureChip Oligo whole-genome microarray (n=45,744)
 
 
 FISH
 battaglia_13_DD/ID/ASD_discovery_cases
  Italy
 aCGH or array SNP
  aCGH: BACs aCGH (Integrachip 0.8 Mb), Agilent 44K oligoarray, or Agilent 180K oligoarray; array SNP: Affymetrix 6.0 Chip
 
 
 FISH or qPCR

Controls

Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
  kaminsky_11_DD/ID/ASD_discovery_controls
  NA
  aCGH
  Agilent 44K or 105K
 
  Feature Extraction & DNA Analytics
 
  nguyen_13_DD/ID/MCA/ASD_discovery_controls
  N/A
  N/A
  N/A
 
 
  N/A

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-ISCA00005130
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 106619154
 114110891
  7491737
 NCBI36
 Deletion
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000916
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 107368481
 114110750
  6742269
 NCBI36
 Deletion
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004814
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 107368481
 114110750
  6742269
 NCBI36
 Duplication
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000025
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 108193520
 114110750
  5917230
 NCBI36
 Deletion
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004259
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 108613006
 114110891
  5497885
 NCBI36
 Duplication
 Yes
  nguyen_13_DD/ID/MCA/ASD_discovery_cases-249233
 N/A
 F
 Developmental delay/intellectual disability
 Database: DECIPHER. Indication for study: Depressed/flat nasal bridge, ear lobule, hypohidrotic or dry skin, large ears, intellectual disability/developmental delay, microcephaly, patchy skin defects, prominent heels, scoliosis
 Developmental delay/intellectual disability
 108279754
 115105806
  6826052
 hg19
 Deletion
 N/A
  nguyen_13_DD/ID/MCA/ASD_discovery_cases-250838
 N/A
 F
 Developmental delay/intellectual disability
 Database: DECIPHER. Indication for study: Diabetes mellitus/hyperglycaemia, eczema, low birth weight (<3rd centile), intellectual disability/developmental delay, microcephaly, speech delay, non-specific impairment
 Developmental delay/intellectual disability
 107729432
 115085141
  7355709
 hg19
 Deletion
 N/A
  nguyen_13_DD/ID/MCA/ASD_discovery_cases-253197
 N/A
 F
 DD/ID/MCA
 Database: DECIPHER. Indication for study: NF (nothing found/no phenotypic information available)
 
 110276126
 115059020
  4782894
 hg19
 Deletion
 N/A
  nguyen_13_DD/ID/MCA/ASD_discovery_cases-254265
 N/A
 F
 Developmental delay/intellectual disability
 Database: DECIPHER. Indication for study: Intellectual disability/developmental delay, prominent eyes/proptosis, short stature
 Developmental delay/intellectual disability
 109707451
 115105806
  5398355
 hg19
 Deletion
 N/A
  nguyen_13_DD/ID/MCA/ASD_discovery_cases-256902
 N/A
 F
 DD/ID/MCA
 Database: DECIPHER. Indication for study: NF (nothing found/no phenotypic information available)
 
 109462798
 115092619
  5629821
 hg19
 Deletion
 N/A
  nguyen_13_DD/ID/MCA/ASD_discovery_cases-GC16047
 N/A
 F
 Dysmorphic features
 Database: Signature. Indication for study: Dysmorphic Features,46,XX,add(13)(q32)
 
 109714585
 115169878
  5455293
 hg19
 Deletion
 Yes
  nguyen_13_DD/ID/MCA/ASD_discovery_cases-GC19355
 N/A
 F
 Hypotonia
 Database: Signature. Indication for study: Hypotonia, karyotype: der(13)t(6;13) w/~5Mb 6p dup
 
 109839309
 115169878
  5330569
 hg19
 Deletion
 Yes
  nguyen_13_DD/ID/MCA/ASD_discovery_cases-GC37103
 N/A
 F
 Developmental delay
 Database: Signature. Indication for study: Developmental Delay, Dysmorphic Features
 Developmental delay
 107454239
 115169878
  7715639
 hg19
 Deletion
 Yes
  nguyen_13_DD/ID/MCA/ASD_discovery_cases-GC38843
 N/A
 F
 DD/ID/MCA
 Database: Signature. Indication for study: Tremors, Known ring 13 (complex mosaic ring with gain from 13q31q33)
 
 107815417
 115169878
  7354461
 hg19
 Deletion
 Yes
  nguyen_13_DD/ID/MCA/ASD_discovery_cases-GC59120
 N/A
 M
 Developmental delay and epilepsy
 Database: Signature. Indication for study: Developmental Delay, Dysmorphic Features, Seizure Disorder, Multiple Congenital Anomalies; karyotype of der(13)t(1;13) w/~3Mb 1p gain
 Developmental delay
 107638950
 115091736
  7452786
 hg19
 Deletion
 Yes
  nguyen_13_DD/ID/MCA/ASD_discovery_cases-GC7902
 N/A
 F
 Developmental delay
 Database: Signature. Indication for study: Developmental Delay, Dysmorphic Features, karyotype of der(13)t(13;18) w/18q dup
 Developmental delay
 109576788
 115085141
  5508353
 hg19
 Deletion
 Yes
  battaglia_13_DD/ID/ASD_discovery_cases-case24
 13 yrs. 7 mos.
 M
 Developmental delay/intellectual disability and epilepsy
 Autism: no. Epilepsy: yes. Dysmorphic features: yes.
 Moderate DD/ID
 106808276
 114077122
  7000000
 hg18
 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-ISCA00005130
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Unknown
 Unknown
 Unknown
 FAM155A,LIG4,ABHD13,TNFSF13B,MYO16,IRS2,COL4A1,COL4A2,RAB20,CARKD,CARS2,ING1,ANKRD10,ARHGEF7,TEX29,SOX1,SPACA7,TUBGCP3,C13orf35,ATP11A,MCF2L,F7,F10,PROZ,PCID2,CUL4A,LAMP1,GRTP1,ADPRHL1,DCUN1D2,TMCO3,TFDP1,ATP4B,GRK1,GAS6,FAM70B,RASA3,CDC16,UPF3A,CHAMP1
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000916
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Unknown
 Unknown
 Unknown
 LIG4,ABHD13,TNFSF13B,MYO16,IRS2,COL4A1,COL4A2,RAB20,CARKD,CARS2,ING1,ANKRD10,ARHGEF7,TEX29,SOX1,SPACA7,TUBGCP3,C13orf35,ATP11A,MCF2L,F7,F10,PROZ,PCID2,CUL4A,LAMP1,GRTP1,ADPRHL1,DCUN1D2,TMCO3,TFDP1,ATP4B,GRK1,GAS6,FAM70B,RASA3,CDC16,UPF3A,CHAMP1
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004814
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Unknown
 Unknown
 Unknown
 LIG4,ABHD13,TNFSF13B,MYO16,IRS2,COL4A1,COL4A2,RAB20,CARKD,CARS2,ING1,ANKRD10,ARHGEF7,TEX29,SOX1,SPACA7,TUBGCP3,C13orf35,ATP11A,MCF2L,F7,F10,PROZ,PCID2,CUL4A,LAMP1,GRTP1,ADPRHL1,DCUN1D2,TMCO3,TFDP1,ATP4B,GRK1,GAS6,FAM70B,RASA3,CDC16,UPF3A,CHAMP1
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000025
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Paternal
 Unknown
 Unknown
 MYO16,IRS2,COL4A1,COL4A2,RAB20,CARKD,CARS2,ING1,ANKRD10,ARHGEF7,TEX29,SOX1,SPACA7,TUBGCP3,C13orf35,ATP11A,MCF2L,F7,F10,PROZ,PCID2,CUL4A,LAMP1,GRTP1,ADPRHL1,DCUN1D2,TMCO3,TFDP1,ATP4B,GRK1,GAS6,FAM70B,RASA3,CDC16,UPF3A,CHAMP1
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004259
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Unknown
 Unknown
 Unknown
 MYO16,IRS2,COL4A1,COL4A2,RAB20,CARKD,CARS2,ING1,ANKRD10,ARHGEF7,TEX29,SOX1,SPACA7,TUBGCP3,C13orf35,ATP11A,MCF2L,F7,F10,PROZ,PCID2,CUL4A,LAMP1,GRTP1,ADPRHL1,DCUN1D2,TMCO3,TFDP1,ATP4B,GRK1,GAS6,FAM70B,RASA3,CDC16,UPF3A,CHAMP1
 
 nguyen_13_DD/ID/MCA/ASD_discovery_cases-249233
 
 
 De novo
 Unknown
 Possibly segregated
 FAM155A,LIG4,ABHD13,TNFSF13B,MYO16,IRS2,COL4A1,COL4A2,RAB20,CARKD,CARS2,ING1,ANKRD10,ARHGEF7,TEX29,SOX1,SPACA7,TUBGCP3,C13orf35,ATP11A,MCF2L,F7,F10,PROZ,PCID2,CUL4A,LAMP1,GRTP1,ADPRHL1,DCUN1D2,TMCO3,TFDP1,ATP4B,GRK1,TMEM255B,GAS6,RASA3,CDC16,UPF3A,CHAMP1
 
 nguyen_13_DD/ID/MCA/ASD_discovery_cases-250838
 
 
 Inherited from normal parent
 Unknown
 Unknown
 FAM155A,LIG4,ABHD13,TNFSF13B,MYO16,IRS2,COL4A1,COL4A2,RAB20,CARKD,CARS2,ING1,ANKRD10,ARHGEF7,TEX29,SOX1,SPACA7,TUBGCP3,C13orf35,ATP11A,MCF2L,F7,F10,PROZ,PCID2,CUL4A,LAMP1,GRTP1,ADPRHL1,DCUN1D2,TMCO3,TFDP1,ATP4B,GRK1,TMEM255B,GAS6,RASA3,CDC16,UPF3A,CHAMP1
 
 nguyen_13_DD/ID/MCA/ASD_discovery_cases-253197
 
 
 De novo
 Unknown
 Possibly segregated
 IRS2,COL4A1,COL4A2,RAB20,CARKD,CARS2,ING1,ANKRD10,ARHGEF7,TEX29,SOX1,SPACA7,TUBGCP3,C13orf35,ATP11A,MCF2L,F7,F10,PROZ,PCID2,CUL4A,LAMP1,GRTP1,ADPRHL1,DCUN1D2,TMCO3,TFDP1,ATP4B,GRK1,TMEM255B,GAS6,RASA3,CDC16,UPF3A
 
 nguyen_13_DD/ID/MCA/ASD_discovery_cases-254265
 
 
 Inherited from normal parent
 Unknown
 Unknown
 MYO16,IRS2,COL4A1,COL4A2,RAB20,CARKD,CARS2,ING1,ANKRD10,ARHGEF7,TEX29,SOX1,SPACA7,TUBGCP3,C13orf35,ATP11A,MCF2L,F7,F10,PROZ,PCID2,CUL4A,LAMP1,GRTP1,ADPRHL1,DCUN1D2,TMCO3,TFDP1,ATP4B,GRK1,TMEM255B,GAS6,RASA3,CDC16,UPF3A,CHAMP1
 
 nguyen_13_DD/ID/MCA/ASD_discovery_cases-256902
 
 
 De novo
 Unknown
 Possibly segregated
 MYO16,IRS2,COL4A1,COL4A2,RAB20,CARKD,CARS2,ING1,ANKRD10,ARHGEF7,TEX29,SOX1,SPACA7,TUBGCP3,C13orf35,ATP11A,MCF2L,F7,F10,PROZ,PCID2,CUL4A,LAMP1,GRTP1,ADPRHL1,DCUN1D2,TMCO3,TFDP1,ATP4B,GRK1,TMEM255B,GAS6,RASA3,CDC16,UPF3A,CHAMP1
 
 nguyen_13_DD/ID/MCA/ASD_discovery_cases-GC16047
 FISH
 
 Unknown
 Unknown
 Unknown
 MYO16,IRS2,COL4A1,COL4A2,RAB20,CARKD,CARS2,ING1,ANKRD10,ARHGEF7,TEX29,SOX1,SPACA7,TUBGCP3,C13orf35,ATP11A,MCF2L,F7,F10,PROZ,PCID2,CUL4A,LAMP1,GRTP1,ADPRHL1,DCUN1D2,TMCO3,TFDP1,ATP4B,GRK1,TMEM255B,GAS6,RASA3,CDC16,UPF3A,CHAMP1
 
 nguyen_13_DD/ID/MCA/ASD_discovery_cases-GC19355
 FISH
 
 De novo
 Unknown
 Possibly segregated
 MYO16,IRS2,COL4A1,COL4A2,RAB20,CARKD,CARS2,ING1,ANKRD10,ARHGEF7,TEX29,SOX1,SPACA7,TUBGCP3,C13orf35,ATP11A,MCF2L,F7,F10,PROZ,PCID2,CUL4A,LAMP1,GRTP1,ADPRHL1,DCUN1D2,TMCO3,TFDP1,ATP4B,GRK1,TMEM255B,GAS6,RASA3,CDC16,UPF3A,CHAMP1
 
 nguyen_13_DD/ID/MCA/ASD_discovery_cases-GC37103
 FISH
 
 De novo
 Unknown
 Possibly segregated
 FAM155A,LIG4,ABHD13,TNFSF13B,MYO16,IRS2,COL4A1,COL4A2,RAB20,CARKD,CARS2,ING1,ANKRD10,ARHGEF7,TEX29,SOX1,SPACA7,TUBGCP3,C13orf35,ATP11A,MCF2L,F7,F10,PROZ,PCID2,CUL4A,LAMP1,GRTP1,ADPRHL1,DCUN1D2,TMCO3,TFDP1,ATP4B,GRK1,TMEM255B,GAS6,RASA3,CDC16,UPF3A,CHAMP1
 
 nguyen_13_DD/ID/MCA/ASD_discovery_cases-GC38843
 FISH
 
 Unknown
 Unknown
 Unknown
 FAM155A,LIG4,ABHD13,TNFSF13B,MYO16,IRS2,COL4A1,COL4A2,RAB20,CARKD,CARS2,ING1,ANKRD10,ARHGEF7,TEX29,SOX1,SPACA7,TUBGCP3,C13orf35,ATP11A,MCF2L,F7,F10,PROZ,PCID2,CUL4A,LAMP1,GRTP1,ADPRHL1,DCUN1D2,TMCO3,TFDP1,ATP4B,GRK1,TMEM255B,GAS6,RASA3,CDC16,UPF3A,CHAMP1
 
 nguyen_13_DD/ID/MCA/ASD_discovery_cases-GC59120
 FISH
 
 Unknown
 Unknown
 Unknown
 FAM155A,LIG4,ABHD13,TNFSF13B,MYO16,IRS2,COL4A1,COL4A2,RAB20,CARKD,CARS2,ING1,ANKRD10,ARHGEF7,TEX29,SOX1,SPACA7,TUBGCP3,C13orf35,ATP11A,MCF2L,F7,F10,PROZ,PCID2,CUL4A,LAMP1,GRTP1,ADPRHL1,DCUN1D2,TMCO3,TFDP1,ATP4B,GRK1,TMEM255B,GAS6,RASA3,CDC16,UPF3A,CHAMP1
 
 nguyen_13_DD/ID/MCA/ASD_discovery_cases-GC7902
 FISH
 
 De novo
 Unknown
 Possibly segregated
 MYO16,IRS2,COL4A1,COL4A2,RAB20,CARKD,CARS2,ING1,ANKRD10,ARHGEF7,TEX29,SOX1,SPACA7,TUBGCP3,C13orf35,ATP11A,MCF2L,F7,F10,PROZ,PCID2,CUL4A,LAMP1,GRTP1,ADPRHL1,DCUN1D2,TMCO3,TFDP1,ATP4B,GRK1,TMEM255B,GAS6,RASA3,CDC16,UPF3A,CHAMP1
 
 battaglia_13_DD/ID/ASD_discovery_cases-case24
 FISH or qPCR
 
 De novo
 Unknown
 Unknown
 FAM155A,LIG4,ABHD13,TNFSF13B,MYO16,IRS2,COL4A1,COL4A2,RAB20,CARKD,CARS2,ING1,ANKRD10,ARHGEF7,TEX29,SOX1,SPACA7,TUBGCP3,C13orf35,ATP11A,MCF2L,F7,F10,PROZ,PCID2,CUL4A,LAMP1,GRTP1,ADPRHL1,DCUN1D2,TMCO3,TFDP1,ATP4B,GRK1,GAS6,TMEM255B,RASA3,CDC16,UPF3A
 

Controls

No Control Data Available
No Animal Model Data Available
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