5p15.33-p14.3CNV Type: Deletion
Largest CNV size: 23092763 bp
Statistics Box:
Number of Reports: 4
Number of Reports: 4
Summary Information
Deletions within this region were found in three cases 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
Impact of on-site clinical genetics consultations on diagnostic rate in children and young adults with autism spectrum disorder.
Duplication
Minor Reports
Title
Author, Year
Report Class
CNV Type
Comprehensive genome sequencing analyses identify novel gene mutations and copy number variations associated with infant developmental delay or intellectual disability (DD/ID)
Deletion
Trio-whole exome sequencing reveals the importance of de novo variants in children with intellectual disability and developmental delay
Deletion
Cases
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
chen_22_DD/ID_discovery_cases
Patients recruited at the Children's Hospital of Chongqing Medical University, from September 2016 to April 2020.
69
Patients presented with developmental delay/intellectual disability (DD/ID), with or without multiple congenital anomalies (MCA).
Average age at diagnosis, 19 mos.
50.725% Male
18742905
1
0
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
23092763
3
0
3
li_24_ASD/ADHD/DD/ID_discovery_cases
Children diagnosed with developmental delay/intellectual disability at the Children's Medical Center of the Affiliated Hospital of Guangdong Medical University between January 2020 and December 2022.
173
All cases were diagnosed with developmental delay/intellectual disability (DD/ID); additional diagnoses included ASD (11/173, 6.4%) and ADHD (21/173, 12.1%).
Mean age, 3.8 +/- 5.2 yrs.
59.53% Male
18987168
1
0
1
munnich_19_ASD_discovery_cases
Children and young adults with ASD recruited from 26 day-care hospitals and specialized institutions within the Greater Paris region
502
Diagnosis of ASD based on DSM criteria, with standardized clinical assessment performed using CARS, ADOS, and/or ADI-R
< 10 years, 34 cases; 11-20 years, 194 cases; 21-30 years, 211 cases; > 30 years, 63 cases
69.92% Male
19300000
0
1
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
chen_22_DD/ID_discovery_cases
China
WGS
Illumina NovaSeq 6000
NA
Chigene
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
li_24_ASD/ADHD/DD/ID_discovery_cases
China
WES
MGISEQ-2000RS
Weaver
FastQC
munnich_19_ASD_discovery_cases
France
aCGH, karyotyping
Agilent 60K
FISH
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
chen_22_DD/ID_discovery_cases-case27
9 mos.
F
Developmental delay and intellectual disability
Gesell scores: 45-39-32-21-53. Clinical profile: motor retardation, speech and language retardation, facial abnormalities, microcephaly, cognitive impairment, weight abnormalities, crying abnormalities, brain MRI abnormalities, and EEG abnormalities.
Intellectual disability.
16521
18759425
18742905
GRCh38
Deletion
No
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001225
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
22149
23132046
23109898
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002621
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
22419
19280892
19258474
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004689
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
49778
19125522
19075745
GRCh38
Deletion
Yes
li_24_ASD/ADHD/DD/ID_discovery_cases-case132
2.6 yrs.
M
Developmental delay and intellectual disability
Moderate developmental delay/intellectual disability, microcephaly, hypotonia, dysphagia, facial dysmorphism (telecanthus, flat nasal bridge), abnormal brain MRI (cerebral dysplasia)
Moderate developmental delay/intellectual disability
11800
18998967
18987168
GRCh38
Deletion
No
munnich_19_ASD_discovery_cases-case25
N/A
F
ASD
Case diagnosed with ASD based on DSM criteria. CNV detected by aCGH (Agilent 60K)
658446
19955651
19297206
GRCh38
Duplication
Yes
Controls
No Control Data Available
Cases
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
chen_22_DD/ID_discovery_cases-case27
De novo
ADCY2,DAP,CTNND2,DNAH5,SNORD81,IRX4,TAS2R1,CEP72,OTULINL,RETREG1,NSUN2,AHRR,ANKH,ZDHHC11,IRX1,BRD9,MRPL36,FASTKD3,LPCAT1,MED10,CLPTM1L,ROPN1L,ZNF622,OTULIN,NKD2,EXOC3-AS1,CCDC127,EEF1A1P13,C5orf49,C5orf38,ATPSCKMT,CMBL,UBE2QL1,IRX2,PLEKHG4B,ADAMTS16,FTH1P10,LINC01018,LINC01019,SLC6A19,BASP1-AS1,H3Y2,LINC02112,LINC01020,SLC6A18,LRRC14B,LINC02213,TAF11L2,CCT6P2,TAF11L4,H3Y1,H3P18,LINC02145,MARCHF11-DT,H3P21,TAF11L6,LINC02111,LINC01194,MARCHF11,ALG3P1,RPS26P28,RBBP4P1,TAF11L3,LINC02223,TAF11L5,ANKRD33B,OTULIN-DT,SDHAP3,ZDHHC11B,SNORD123,MIR887,LINC02226,MTRR,NDUFS6,MYO10,NACAP6,RPL30P7,RPS23P5,SLC9A3-AS1,UQCRBP3,H3P20,DCAF13P2,RPL36AP21,SPCS2P3,HMGB3P3,MARK2P5,SEPHS2P1,MIR4278,MIR4458HG,LINC02102,MIR4277,ROPN1L-AS1,SNHG18,MIR4456,MIR4458,MIR4457,MIR4637,MIR4636,LINC01511,RNA5SP179,RNA5SP177,RNA5SP178,MIR4635,RNA5SP176,RNA5SP180,CEP72-DT,ANKRD33B-AS1,HNRNPKP5,LSINCT5,LINC02149,LINC02212,LINC02123,RETREG1-AS1,LINC02150,LINC02217,LINC02116,SEMA5A-AS1,IRX4-AS1,LINC02199,LINC02114,ADAMTS16-DT,LINC01377,PDCD6-DT,LINC01017,MIR6131,LINC02218,MIR6075,LINC02063,LINC02221,LINC02142,LINC02220,LINC02162,LINC02121,DAP-DT,MTND6P2,RN7SL58P,SDHA,SLC9A3,TRIO,TERT,SRD5A1,SLC6A3,RNU6-679P,RNU6-429P,RN7SKP79,RN7SKP73,RNU6-660P,MTCO2P32,NENFP3,MTCO1P31,RNU6-1003P,MTCO2P30,RNU1-76P,RN7SKP133,MTCO1P30,LINC02196,LINC02100,MARCHF11-AS1,MTCYBP37,LINC02236,BRD9P2,LINC01513,TAF11L13,TAF11L8,TAF11L14,TAF11L12,TAF11L10,TAF11L9,TAF11L11,TAF11L7,H3P22,H3P19,H3P17,PDCD6-AHRR,ANKH-DT,SEMA5A,TRIP13,PDCD6,TPPP,MARCHF6,EXOC3,SLC12A7,TENT4A,BASP1,ICE1,FBXL7,CCT5
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001225
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
LRRC14B,HRAT5,PP7080,MIR4456,BRD9P2,SPCS2P3,MIR4635,CTD-3080P12.3,MIR4457,MTCO2P32,MIR6075,MIR4277,MRPL36,LINC02116,CTD-2194D22.4,LSINCT5,IRX2,LINC01017,IRX1,LINC02063,LINC02114,LINC02121,RN7SKP73,CTD-2297D10.2,ALG3P1,MTCO1P30,MTCO2P30,MTCO1P31,HMGB3P3,MIR4278,RN7SKP79,RNA5SP176,LINC02123,LINC02142,RNU1-76P,MIR4458,MTND6P2,MTCYBP37,MIR4636,SEMA5A-AS1,SNHG18,SNORD123,RNA5SP177,ROPN1L-AS1,MIR6131,LINC01513,RPL30P7,ANKRD33B-AS1,RNU6-429P,RNU6-679P,RPS23P5,NENFP3,CCT6P2,EEF1A1P13,RBBP4P1,MIR4637,UQCRBP3,HNRNPKP5,SEPHS2P1,MIR887,RNA5SP178,NACAP6,ZNF622,RNA5SP179,RPS26P28,RNU6-660P,RNA5SP180,DCAF13P2,RNU6-1003P,RN7SKP133,FTH1P10,TAF11L2,TAF11L3,TAF11L4,TAF11L5,TAF11L6,TAF11L7,TAF11L8,TAF11L9,TAF11L10,TAF11L11,TAF11L12,TAF11L13,TAF11L14,H3.Y,RPL36AP21,RN7SL58P,UBE2V1P12,RPL32P14,HSPD1P15,LINC02146,HSPD1P1,GCNT1P2,CCDC127,SDHA,PDCD6,EXOC3-AS1,EXOC3,SLC9A3-AS1,TPPP,ZDHHC11B,ZDHHC11,BRD9,NKD2,SLC12A7,SLC6A19,SLC6A18,TERT,CLPTM1L,LINC01511,LPCAT1,NDUFS6,IRX4,LINC01377,LINC01019,LINC02162,LINC01020,ICE1,LINC02145,MED10,UBE2QL1,LINC01018,NSUN2,SRD5A1,LINC02102,TENT4A,C5orf49,MIR4458HG,LINC02199,LINC02221,FAM173B,CCT5,CMBL,ROPN1L,LINC02212,LINC02213,OTULINL,MARK2P5,LINC02111,LINC02218,PLEKHG4B,AHRR,SLC9A3,CEP72,TRIP13,SLC6A3,SDHAP3,C5orf38,LINC02196,ADCY2,MTRR,FASTKD3,TAS2R1,LINC02112,MARCH6,ANKRD33B,DAP,LINC02220,DNAH5,TRIO,ANKH,LINC02149,MARCH11,LINC02150,RETREG1,BASP1,BASP1-AS1,LINC02217,LINC02100,CDH18-AS1,LINC02241,GUSBP1,PMCHL1,ADAMTS16,SEMA5A,CTNND2,LINC01194,OTULIN,FBXL7,LINC02223,CDH18,CDH12,LINC02226,MYO10
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002621
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
De novo
Unknown
Unknown
LRRC14B,HRAT5,PP7080,MIR4456,BRD9P2,SPCS2P3,MIR4635,CTD-3080P12.3,MIR4457,MTCO2P32,MIR6075,MIR4277,MRPL36,LINC02116,CTD-2194D22.4,LSINCT5,IRX2,LINC01017,IRX1,LINC02063,LINC02114,LINC02121,RN7SKP73,CTD-2297D10.2,ALG3P1,MTCO1P30,MTCO2P30,MTCO1P31,HMGB3P3,MIR4278,RN7SKP79,RNA5SP176,LINC02123,LINC02142,RNU1-76P,MIR4458,MTND6P2,MTCYBP37,MIR4636,SEMA5A-AS1,SNHG18,SNORD123,RNA5SP177,ROPN1L-AS1,MIR6131,LINC01513,RPL30P7,ANKRD33B-AS1,RNU6-429P,RNU6-679P,RPS23P5,NENFP3,CCT6P2,EEF1A1P13,RBBP4P1,MIR4637,UQCRBP3,HNRNPKP5,SEPHS2P1,MIR887,RNA5SP178,NACAP6,ZNF622,RNA5SP179,RPS26P28,RNU6-660P,RNA5SP180,DCAF13P2,RNU6-1003P,RN7SKP133,FTH1P10,TAF11L2,TAF11L3,TAF11L4,TAF11L5,TAF11L6,TAF11L7,TAF11L8,TAF11L9,TAF11L10,TAF11L11,TAF11L12,TAF11L13,TAF11L14,H3.Y,RPL36AP21,RN7SL58P,UBE2V1P12,RPL32P14,HSPD1P15,CCDC127,SDHA,PDCD6,EXOC3-AS1,EXOC3,SLC9A3-AS1,TPPP,ZDHHC11B,ZDHHC11,BRD9,NKD2,SLC12A7,SLC6A19,SLC6A18,TERT,CLPTM1L,LINC01511,LPCAT1,NDUFS6,IRX4,LINC01377,LINC01019,LINC02162,LINC01020,ICE1,LINC02145,MED10,UBE2QL1,LINC01018,NSUN2,SRD5A1,LINC02102,TENT4A,C5orf49,MIR4458HG,LINC02199,LINC02221,FAM173B,CCT5,CMBL,ROPN1L,LINC02212,LINC02213,OTULINL,MARK2P5,LINC02111,LINC02218,PLEKHG4B,AHRR,SLC9A3,CEP72,TRIP13,SLC6A3,SDHAP3,C5orf38,LINC02196,ADCY2,MTRR,FASTKD3,TAS2R1,LINC02112,MARCH6,ANKRD33B,DAP,LINC02220,DNAH5,TRIO,ANKH,LINC02149,MARCH11,LINC02150,RETREG1,BASP1,BASP1-AS1,LINC02217,LINC02100,ADAMTS16,SEMA5A,CTNND2,LINC01194,OTULIN,FBXL7,LINC02223,LINC02226,MYO10
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004689
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
De novo
Unknown
Unknown
LRRC14B,HRAT5,PP7080,MIR4456,BRD9P2,SPCS2P3,MIR4635,CTD-3080P12.3,MIR4457,MTCO2P32,MIR6075,MIR4277,MRPL36,LINC02116,CTD-2194D22.4,LSINCT5,IRX2,LINC01017,IRX1,LINC02063,LINC02114,LINC02121,RN7SKP73,CTD-2297D10.2,ALG3P1,MTCO1P30,MTCO2P30,MTCO1P31,HMGB3P3,MIR4278,RN7SKP79,RNA5SP176,LINC02123,LINC02142,RNU1-76P,MIR4458,MTND6P2,MTCYBP37,MIR4636,SEMA5A-AS1,SNHG18,SNORD123,RNA5SP177,ROPN1L-AS1,MIR6131,LINC01513,RPL30P7,ANKRD33B-AS1,RNU6-429P,RNU6-679P,RPS23P5,NENFP3,CCT6P2,EEF1A1P13,RBBP4P1,MIR4637,UQCRBP3,HNRNPKP5,SEPHS2P1,MIR887,RNA5SP178,NACAP6,ZNF622,RNA5SP179,RPS26P28,RNU6-660P,RNA5SP180,DCAF13P2,RNU6-1003P,RN7SKP133,FTH1P10,TAF11L2,TAF11L3,TAF11L4,TAF11L5,TAF11L6,TAF11L7,TAF11L8,TAF11L9,TAF11L10,TAF11L11,TAF11L12,TAF11L13,TAF11L14,H3.Y,RPL36AP21,RN7SL58P,UBE2V1P12,RPL32P14,CCDC127,SDHA,PDCD6,EXOC3-AS1,EXOC3,SLC9A3-AS1,TPPP,ZDHHC11B,ZDHHC11,BRD9,NKD2,SLC12A7,SLC6A19,SLC6A18,TERT,CLPTM1L,LINC01511,LPCAT1,NDUFS6,IRX4,LINC01377,LINC01019,LINC02162,LINC01020,ICE1,LINC02145,MED10,UBE2QL1,LINC01018,NSUN2,SRD5A1,LINC02102,TENT4A,C5orf49,MIR4458HG,LINC02199,LINC02221,FAM173B,CCT5,CMBL,ROPN1L,LINC02212,LINC02213,OTULINL,MARK2P5,LINC02111,LINC02218,PLEKHG4B,AHRR,SLC9A3,CEP72,TRIP13,SLC6A3,SDHAP3,C5orf38,LINC02196,ADCY2,MTRR,FASTKD3,TAS2R1,LINC02112,MARCH6,ANKRD33B,DAP,LINC02220,DNAH5,TRIO,ANKH,LINC02149,MARCH11,LINC02150,RETREG1,BASP1,BASP1-AS1,LINC02217,LINC02100,ADAMTS16,SEMA5A,CTNND2,LINC01194,OTULIN,FBXL7,LINC02223,LINC02226,MYO10
li_24_ASD/ADHD/DD/ID_discovery_cases-case132
De novo
ADCY2,DAP,CTNND2,DNAH5,SNORD81,IRX4,TAS2R1,CEP72,OTULINL,RETREG1,NSUN2,AHRR,ANKH,ZDHHC11,IRX1,BRD9,MRPL36,FASTKD3,LPCAT1,MED10,CLPTM1L,ROPN1L,ZNF622,OTULIN,NKD2,EXOC3-AS1,CCDC127,EEF1A1P13,C5orf49,C5orf38,ATPSCKMT,CMBL,UBE2QL1,IRX2,PLEKHG4B,ADAMTS16,FTH1P10,LINC01018,LINC01019,SLC6A19,BASP1-AS1,H3Y2,LINC02112,LINC01020,SLC6A18,LRRC14B,LINC02213,TAF11L2,CCT6P2,TAF11L4,H3Y1,H3P18,LINC02145,MARCHF11-DT,H3P21,TAF11L6,LINC02111,LINC01194,MARCHF11,ALG3P1,RPS26P28,RBBP4P1,TAF11L3,LINC02223,TAF11L5,ANKRD33B,OTULIN-DT,SDHAP3,ZDHHC11B,SNORD123,MIR887,LINC02226,MTRR,NDUFS6,MYO10,NACAP6,RPL30P7,RPS23P5,SLC9A3-AS1,UQCRBP3,H3P20,DCAF13P2,RPL36AP21,SPCS2P3,HMGB3P3,MARK2P5,SEPHS2P1,MIR4278,MIR4458HG,LINC02102,MIR4277,ROPN1L-AS1,SNHG18,MIR4456,MIR4458,MIR4457,MIR4637,MIR4636,LINC01511,RNA5SP179,RNA5SP177,RNA5SP178,MIR4635,RNA5SP176,RNA5SP180,CEP72-DT,ANKRD33B-AS1,HNRNPKP5,LSINCT5,LINC02149,LINC02212,LINC02123,RETREG1-AS1,LINC02150,LINC02217,LINC02116,SEMA5A-AS1,IRX4-AS1,LINC02199,LINC02114,ADAMTS16-DT,LINC01377,PDCD6-DT,LINC01017,MIR6131,LINC02218,MIR6075,LINC02063,LINC02221,LINC02142,LINC02220,LINC02162,LINC02121,DAP-DT,MTND6P2,RN7SL58P,UBE2V1P12,SDHA,SLC9A3,TRIO,TERT,SRD5A1,SLC6A3,RNU6-679P,RNU6-429P,RN7SKP79,RN7SKP73,RNU6-660P,MTCO2P32,NENFP3,MTCO1P31,RNU6-1003P,MTCO2P30,RNU1-76P,RN7SKP133,MTCO1P30,LINC02196,LINC02100,MARCHF11-AS1,MTCYBP37,LINC02236,BRD9P2,LINC01513,TAF11L13,TAF11L8,TAF11L14,TAF11L12,TAF11L10,TAF11L9,TAF11L11,TAF11L7,H3P22,H3P19,H3P17,PDCD6-AHRR,ANKH-DT,SEMA5A,TRIP13,PDCD6,TPPP,MARCHF6,EXOC3,SLC12A7,TENT4A,BASP1,ICE1,FBXL7,CCT5
munnich_19_ASD_discovery_cases-case25
FISH
De novo
BRD9P2,SPCS2P3,MIR4635,MIR4457,MTCO2P32,MIR6075,MIR4277,MRPL36,LINC02116,LSINCT5,IRX2,LINC01017,IRX1,LINC02114,LINC02121,RN7SKP73,ALG3P1,MTCO1P30,MTCO2P30,MTCO1P31,HMGB3P3,MIR4278,RN7SKP79,RNA5SP176,LINC02123,RNU1-76P,MIR4458,MTND6P2,MTCYBP37,MIR4636,SEMA5A-AS1,SNHG18,SNORD123,RNA5SP177,ROPN1L-AS1,MIR6131,LINC01513,RPL30P7,ANKRD33B-AS1,RNU6-429P,RNU6-679P,RPS23P5,NENFP3,CCT6P2,EEF1A1P13,RBBP4P1,MIR4637,UQCRBP3,HNRNPKP5,SEPHS2P1,MIR887,RNA5SP178,NACAP6,ZNF622,RNA5SP179,RPS26P28,RNU6-660P,RNA5SP180,DCAF13P2,RNU6-1003P,RN7SKP133,FTH1P10,TAF11L2,TAF11L3,TAF11L4,TAF11L5,TAF11L6,TAF11L7,TAF11L8,TAF11L9,TAF11L10,TAF11L11,TAF11L12,TAF11L13,TAF11L14,RPL36AP21,RN7SL58P,UBE2V1P12,RPL32P14,HSPD1P15,TPPP,ZDHHC11B,ZDHHC11,BRD9,NKD2,SLC12A7,SLC6A19,SLC6A18,TERT,CLPTM1L,LINC01511,LPCAT1,NDUFS6,IRX4,LINC02162,LINC02063,LINC01020,ICE1,LINC02145,MED10,UBE2QL1,LINC01018,NSUN2,SRD5A1,LINC02102,TENT4A,LINC02142,C5orf49,MIR4458HG,LINC02199,LINC02221,ATPSCKMT,CCT5,CMBL,ROPN1L,LINC02212,LINC02213,OTULINL,MARK2P5,LINC02111,LINC02218,CEP72,TRIP13,SLC6A3,SDHAP3,C5orf38,LINC01019,LINC02236,LINC02196,ADCY2,MTRR,FASTKD3,TAS2R1,LINC02112,ANKRD33B,DAP,LINC02220,DNAH5,TRIO,ANKH,LINC02149,LINC02150,RETREG1,BASP1,BASP1-AS1,LINC02217,LINC02100,ADAMTS16,SEMA5A,CTNND2,LINC01194,OTULIN,FBXL7,LINC02223,CDH18,LINC02226,MYO10
Controls
No Control Data Available
No Animal Model Data Available