2q31.1-q31.2CNV Type: Deletion
Largest CNV size: 4818124 bp
Statistics Box:
Number of Reports: 3
Number of Reports: 3
Summary Information
Deletions within this region were found in two 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
Minor Reports
Title
Author, Year
Report Class
CNV Type
The diagnostic yield of intellectual disability: combined whole genome low-coverage sequencing and medical exome sequencing
Deletion
Cases
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
chaves_19_ASD/DD/ID_discovery_cases
Patients from the south of Brazil with neurodevelopmental disorders
420
Developmental delay/intellectual disability present in 80% of cases, ASD in 32%
Range, 0-49 years (mean 9.5 9.73 years)
61.90% Male
16594158
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
4818124
2
0
2
wang_20_ID_discovery_cases
Patients recruited from the Department of Neurology, Affiliated Childrens Hospital of the Capital Institute of Pediatrics (Beijing, China) between Jan. 2016.01 and Dec. 2018.
95
All cases presented with intellectual disability (ID); 52 patients had ID with multiple congenital anomalies, and 14 patients had ID with autism spectrum disorder
Range, 1 yr. 1 mo.-16 yrs.
68.0% Male
2060001
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
chaves_19_ASD/DD/ID_discovery_cases
Brazil
Array SNP
Affymetrix CytoScan 750K, Affymetrix CytoScan HD
Affymetrix ChAS
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
wang_20_ID_discovery_cases
Han Chinese
WGS
Illumina HiSeq 2000
Short Oligonucleotide Analysis Package (SOAP) v.2.21
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
chaves_19_ASD/DD/ID_discovery_cases-case160
N/A
F
Developmental delay, intellectual disability, and epilepsy
Short stature, developmental delay, intellectual disability, speech and/or language delay or impairment, epilepsy and facial dysmorphism
173200987
189795144
16594158
GRCh38
Deletion
No
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000785
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
172779876
177598000
4818125
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002000
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
173408061
177702487
4294427
GRCh38
Deletion
Yes
wang_20_ID_discovery_cases-case1
4 yrs. 3 mos.
F
Intellectual disability
Abnormal finger, congenital heart defect
Intellectual disability
175295272
177355272
2060001
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
chaves_19_ASD/DD/ID_discovery_cases-case160
Unknown
PPIAP66,RPL5P7,LINC01960,RPSAP24,RN7SL65P,HNRNPA1P39,LINC01305,SP9,RNU6-5P,H3P6,RNU6-763P,RNU6-1290P,MIR933,EXTL2P1,HOXD12,HOXD11,HOXD9,HOXD8,MIR10B,HOXD4,HAGLROS,HOXD1,MIR7704,PPIAP67,MIR1246,RNU6ATAC14P,FUCA1P1,RNU6-187P,RNA5SP112,KRT8P40,HNRNPA3,MIR4444-1,DNAJC19P5,MIR3128,MIR6512,H3P7,TTC30B,TTC30A,API5P2,RNU6-629P,RNU5E-9P,RNU7-104P,RPS6P2,MIR1258,FTH1P20,MIR4437,NEUROD1,SAP18P2,RNU6ATAC19P,KRT18P29,RNA5SP113,RN7SL267P,RPL31P15,RNU6-1122P,KRT8P10,LIN28AP1,CACYBPP2,MIR548AE1,RPL23AP33,RPL21P32,RPL23AP35,MED28P3,DPRXP1,RN7SKP42,RNU6-989P,GAPDHP59,RNA5SP114,MIR561,MIR1245A,MIR1245B,MIR3606,MIR3129,KRT18P19,ASNSD1,ASDURF,OSGEPL1-AS1,CDCA7,CIR1,SCRN3,CHRNA1,ATP5MC3,LNPK,EVX2,HOXD13,HOXD10,HOXD-AS2,HAGLR,RPSAP25,LINC01116,CYCTP,CHROMR,PRKRA,PJVK,FKBP7,PLEKHA3,DNAJC10,DUSP19,NUP35,FSIP2,ZC3H15,FAM171B,ZSWIM2,WDR75,SLC40A1,ANKAR,OSGEPL1,ORMDL1,MAP3K20,MAP3K20-AS1,SP3,OLA1,GPR155,WIPF1,CHN1,MTX2,LINC01117,NFE2L2,AGPS,PDE11A,RBM45,TTN-AS1,TTN,CCDC141,SESTD1,ZNF385B,CWC22,SCHLAP1,UBE2E3,ITGA4,CERKL,ITPRID2,PPP1R1C,FRZB,NCKAP1,ZNF804A,FSIP2-AS1,FSIP2-AS2,LINC01473,CALCRL,TFPI,LINC01090,ST13P2,GULP1,COL3A1,COL5A2,ATF2,OSBPL6,LINC01934,PDE1A,ITGAV,DIRC1,PMS1,HOXD3
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000785
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
ALDH7A1P2,PPIAP66,RPL5P7,LINC01960,RPSAP24,RN7SL65P,HNRNPA1P39,LINC01305,SP9,RNU6-5P,H3F3AP4,RNU6-763P,RNU6-1290P,MIR933,EXTL2P1,HOXD12,HOXD11,HOXD9,HOXD8,MIR10B,HOXD4,HAGLROS,HOXD1,MIR7704,PPIAP67,MIR1246,RNU6ATAC14P,FUCA1P1,RNU6-187P,RNA5SP112,KRT8P40,HNRNPA3,MIR4444-1,DNAJC19P5,MIR3128,MIR6512,TTC30B,CDCA7,CIR1,SCRN3,CHRNA1,ATP5MC3,LNPK,EVX2,HOXD13,HOXD10,HOXD-AS2,HAGLR,RPSAP25,LINC01116,LINC01117,MAP3K20,MAP3K20-AS1,SP3,OLA1,GPR155,WIPF1,CHN1,MTX2,NFE2L2,AGPS,RAPGEF4,ATF2,HOXD3
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002000
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
De novo
Unknown
Unknown
PPIAP66,RPL5P7,LINC01960,RPSAP24,RN7SL65P,HNRNPA1P39,LINC01305,SP9,RNU6-5P,H3F3AP4,RNU6-763P,RNU6-1290P,MIR933,EXTL2P1,HOXD12,HOXD11,HOXD9,HOXD8,MIR10B,HOXD4,HAGLROS,HOXD1,MIR7704,PPIAP67,MIR1246,RNU6ATAC14P,FUCA1P1,RNU6-187P,RNA5SP112,KRT8P40,HNRNPA3,MIR4444-1,DNAJC19P5,MIR3128,MIR6512,TTC30B,CIR1,SCRN3,CHRNA1,ATP5MC3,LNPK,EVX2,HOXD13,HOXD10,HOXD-AS2,HAGLR,RPSAP25,LINC01116,LINC01117,TTC30A,SP3,OLA1,GPR155,WIPF1,CHN1,MTX2,NFE2L2,AGPS,PDE11A,ATF2,HOXD3
wang_20_ID_discovery_cases-case1
Unknown
Unknown
Unknown
EXTL2P1,HOXD12,HOXD11,HOXD9,HOXD8,MIR10B,HOXD4,HAGLROS,HOXD1,MIR7704,PPIAP67,MIR1246,RNU6ATAC14P,FUCA1P1,RNU6-187P,RNA5SP112,KRT8P40,HNRNPA3,MIR4444-1,DNAJC19P5,MIR3128,MIR6512,H3P7,LNPK,EVX2,HOXD13,HOXD10,HOXD-AS2,HAGLR,RPSAP25,LINC01116,MTX2,LINC01117,NFE2L2,HOXD3
Controls
No Control Data Available
No Animal Model Data Available