20p13-p12.1CNV Type: Duplication
Largest CNV size: 14728577 bp
Statistics Box:
Number of Reports: 3
Number of Reports: 3
Summary Information
Rare singleton duplication 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...
Duplication
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
Duplication
Clinical Targeted Panel Sequencing Analysis in Clinical Evaluation of Children with Autism Spectrum Disorder in China
Duplication
Cases
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
hu_22_ASD_discovery_cases
Patients receiving a diagnosis of ASD in the Department of Child Health Care, Children's Hospital of Fudan University, that were included consecutively from January 2019 to December 2020.
573
Cases met criteria for autism spectrum disorder (ASD) using DSM-5 criteria.
Range, 16 mos.-12.8 yrs. (mean, 3.6 yrs)
80.1% Male
13058344
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
14728577
0
1
1
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
15039996
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
hu_22_ASD_discovery_cases
China
Targeted gene panel sequencing
Illumina HiSeq X10
CANOES, HMZDelFinder
PICNIC, AnnotSV
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
hu_22_ASD_discovery_cases-case2
NA
M
ASD
Case met criteria for ASD using DSM-5.
760078
13818421
13058344
GRCh38
Duplication
No
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005380
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
89939
14818511
14728573
GRCh38
Duplication
Yes
wang_20_ID_discovery_cases-case13
1 yr. 4 mos.
M
Developmental delay and intellectual disability
Facial dysmorphism, global developmental delay, reproductive system abnormality
Intellectual disability
119359
15159354
15039996
GRCh38
Duplication
No
Controls
No Control Data Available
Cases
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
hu_22_ASD_discovery_cases-case2
Unknown
ADRA1D,CDC25B,AVP,JAG1,CHGB,ACTG1P3,BMP2,CENPB,FKBP1A,EIF4EP1,SNORD57,RNU105B,SDCBP2,SNORD56,TMEM230,ANGPT4,TRMT6,ESF1,HAO1,SIRPG,SPTLC3,FERMT1,CRLS1,TMEM74B,AP5S1,SMOX,TASP1,C20orf27,TMX4,EBF4,GPCPD1,FASTKD5,MAVS,PAK5,CPXM1,NSFL1C,NDUFAF5,ZNF343,GFRA4,ANKEF1,DDRGK1,PCED1A,MRPS26,VPS16,FAM110A,ADAM33,PANK2,SLC4A11,MCM8,RPS4XP2,RPS10P5,PROKR2,RPL23AP6,SIRPD,HSPA12B,RPS18P1,RPS11P1,TMC2,C20orf141,SLX4IP,SLC52A3,SHLD1,LINC00654,RPL19P1,RPL7P2,STK35,PRNT,ISM1,RPL21P2,SIRPA,UBE2V1P1,FAT1P1,LRRN4,PGAM3P,SF3A3P1,GAPDHP2,PA2G4P2,IDH3B,GNRH2,ITPA,FTLP3,SIRPB2,TGM6,RSPO4,C20orf202,SDAD1P2,MIR103A2,RAD21L1,TARDBPP1,PDYN-AS1,SNORD86,LINC02871,SNORD110,LINC00687,LINC01433,SNORA51,UBE2D3P1,OXT,SNAP25-AS1,UBOX5-AS1,HIGD1AP15,TMEM239,MIR103B2,MIR1292,IDI1P3,ISM1-AS1,LINC01723,LINC00658,CKAP2LP1,SDCBP2-AS1,RNA5-8SP7,KANK1P1,RNA5SP474,PLCB1-IT1,PDYN,PTPRA,PHKBP1,PLCB4,PRNP,PCNA,LINC01729,LINC01428,LINC01706,PARAL1,LINC01730,LINC01722,CASC20,LINC01751,LINC01752,MCM8-AS1,LAMP5-AS1,SIRPG-AS1,MIR8062,MIR6870,MIR6869,SIRPB3P,LINC01713,RN7SL498P,RN7SKP111,SIGLEC1,SNAP25,TGM3,SNRPB,RN7SL547P,RN7SL555P,RNU6-917P,RNU6-1019P,RN7SL561P,RNU1-55P,PANK2-AS1,CDS2,MKKS,ATRN,SNPH,RASSF2,SLC23A2,PSMF1,LZTS3,UBOX5,SIRPB1,RNF24,NOP56,BTBD3,LAMP5,DNAAF9,PLCB1,PRND,SPEF1
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005380
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
DEFB125,DEFB126,DEFB127,DEFB128,DEFB132,ZCCHC3,NRSN2,SRXN1,RPS10P5,ACTG1P3,TMEM74B,C20orf202,MIR6869,RNU6-917P,RN7SL561P,RPL7P2,SNRPB,MIR1292,SNORD110,SNORA51,SNORD86,SNORD56,SNORD57,IDH3B,RPL19P1,CPXM1,C20orf141,PCED1A,GNRH2,OXT,AVP,RN7SL555P,FASTKD5,LZTS3,RNU6-1019P,UBE2V1P1,GFRA4,SPEF1,LINC01730,AP5S1,MIR103A2,MIR103B2,FTLP3,RPL21P2,RPS4XP2,PRNP,PRND,RNA5SP474,PCNA,UBE2D3P1,RNA5-8SP7,LINC00654,LINC01729,RPS18P1,EIF4EP1,RNU1-55P,KANK1P1,RN7SL498P,TARDBPP1,BMP2,MIR8062,RN7SL547P,PHKBP1,PLCB1-IT1,RNU105B,LAMP5-AS1,HIGD1AP15,RPL23AP6,MIR6870,LINC01752,FAT1P1,C20orf187,RPS11P1,PGAM3P,RN7SKP111,PA2G4P2,LINC01723,GAPDHP2,RNU6-278P,RPS3P1,AIMP1P1,RN7SL864P,RNF11P2,RPS10P2,DEFB129,C20orf96,NRSN2-AS1,SOX12,RBCK1,TBC1D20,TCF15,SCRT2,SLC52A3,FAM110A,ANGPT4,RSPO4,RAD21L1,SNPH,SDCBP2-AS1,FKBP1A,NSFL1C,SIRPB2,SIRPD,SIRPG,SIRPG-AS1,SIRPA,PDYN,STK35,TGM3,TGM6,NOP56,TMEM239,VPS16,MRPS26,DDRGK1,ITPA,SLC4A11,SF3A3P1,SIGLEC1,HSPA12B,C20orf27,CENPB,MAVS,PANK2,SMOX,ADRA1D,PRNT,RASSF2,CDS2,PROKR2,LINC00658,GPCPD1,CHGB,TRMT6,MCM8,MCM8-AS1,LRRN4,FERMT1,CASC20,LINC01713,LINC01751,LINC01706,HAO1,LAMP5,PARAL1,ANKEF1,SDAD1P2,MKKS,JAG1,LINC00687,BTBD3,LINC01722,NDUFAF5,FLRT3,RNU6-228P,MACROD2-IT1,TRIB3,CSNK2A1,PSMF1,SDCBP2,SIRPB1,SIRPB3P,PDYN-AS1,ZNF343,TMC2,EBF4,PTPRA,C20orf194,ATRN,ADAM33,CDC25B,RNF24,SLC23A2,TMEM230,SHLD1,CRLS1,LINC01428,TMX4,PAK5,SNAP25-AS1,SNAP25,SPTLC3,ISM1,ISM1-AS1,ESF1,SEL1L2,UBOX5-AS1,UBOX5,LINC01433,PLCB4,SLX4IP,TASP1,MACROD2,PLCB1
wang_20_ID_discovery_cases-case13
Unknown
Unknown
Unknown
DEFB126,DEFB127,DEFB128,DEFB132,ZCCHC3,NRSN2,SRXN1,RPS10P5,ACTG1P3,TMEM74B,C20orf202,MIR6869,RNU6-917P,RN7SL561P,CKAP2LP1,RPL7P2,SNRPB,MIR1292,SNORD110,SNORA51,SNORD86,SNORD56,SNORD57,IDH3B,RPL19P1,CPXM1,C20orf141,PCED1A,GNRH2,OXT,AVP,RN7SL555P,FASTKD5,LZTS3,RNU6-1019P,UBE2V1P1,GFRA4,C20orf27,SPEF1,LINC01730,AP5S1,PANK2-AS1,MIR103A2,MIR103B2,FTLP3,RPL21P2,PRNP,PRND,IDI1P3,RNA5SP474,PCNA,UBE2D3P1,RNA5-8SP7,LINC01729,RPS18P1,EIF4EP1,RNU1-55P,KANK1P1,RN7SL498P,TARDBPP1,BMP2,MIR8062,RN7SL547P,PHKBP1,PLCB1-IT1,RNU105B,LAMP5-AS1,HIGD1AP15,RPL23AP6,MIR6870,FAT1P1,RPS11P1,PGAM3P,RN7SKP111,PA2G4P2,GAPDHP2,RNU6-278P,RPS3P1,AIMP1P1,RN7SL864P,RNF11P2,RPS10P2,RNU6-1159P,RNU6-115P,DEFB129,C20orf96,NRSN2-AS1,SOX12,RBCK1,TBC1D20,TCF15,SCRT2,SLC52A3,FAM110A,ANGPT4,RSPO4,RAD21L1,SNPH,SDCBP2-AS1,FKBP1A,NSFL1C,SIRPB2,SIRPD,SIRPG,SIRPG-AS1,SIRPA,PDYN,STK35,TGM3,TGM6,NOP56,TMEM239,VPS16,MRPS26,DDRGK1,ITPA,SLC4A11,SF3A3P1,SIGLEC1,HSPA12B,CENPB,MAVS,PANK2,SMOX,ADRA1D,RPS4XP2,PRNT,RASSF2,CDS2,PROKR2,LINC00658,GPCPD1,CHGB,TRMT6,MCM8,MCM8-AS1,LRRN4,FERMT1,CASC20,LINC01713,LINC01751,LINC01706,HAO1,LAMP5,PARAL1,ANKEF1,SDAD1P2,MKKS,JAG1,LINC00687,BTBD3,LINC01722,NDUFAF5,FLRT3,RNU6-228P,MACROD2-IT1,MACROD2-AS1,TRIB3,CSNK2A1,PSMF1,SDCBP2,SIRPB1,SIRPB3P,PDYN-AS1,ZNF343,TMC2,EBF4,PTPRA,C20orf194,ATRN,ADAM33,CDC25B,RNF24,SLC23A2,TMEM230,LINC00654,SHLD1,CRLS1,LINC01428,TMX4,PAK5,SNAP25-AS1,SNAP25,LINC01752,LINC02871,LINC01723,SPTLC3,ISM1,ISM1-AS1,ESF1,SEL1L2,UBOX5-AS1,UBOX5,LINC01433,PLCB4,SLX4IP,TASP1,MACROD2,PLCB1
Controls
No Control Data Available
No Animal Model Data Available