19p13.2-p13.11CNV Type: Duplication
Largest CNV size: N/A bp
Statistics Box:
Number of Reports: 3
Number of Reports: 3
Summary Information
A duplication with a minimum gene content of the UPF1 gene was identified in a case from a cohort of 57,365 individuals with a predominant cohort diagnosis of developmental delay/intellectual disability and/or mulitple congenital anomalies (MCA) (Nguyen et al., 2013). However, because the exact start and end points of this duplication were not provided, its exact size and gene content cannot be determined.
Additional Locus Information
References
Major Reports
Title
Author, Year
Report Class
CNV Type
Phenotypic and genetic analysis of children with unexplained neurodevelopmental delay and neurodevelopmental comorbidities in a Chinese cohort using trio-based whole-exome sequencing
Duplication
Minor Reports
Title
Author, Year
Report Class
CNV Type
Contribution of copy number variants involving nonsense-mediated mRNA decay pathway genes to neuro-developmental disorders.
Duplication
Reciprocal Relationship between Head Size, an Autism Endophenotype, and Gene Dosage at 19p13.12 Points to AKAP8 and AKAP8L.
Deletion
Cases
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
nebel_15_DD/ID_discovery_cases
Cases from DECIPHER and other publications with overlapping events at the 19p13.12 locus
16
Cases presented with at least one of the following phenotypes: developmental delay, intellectual disability, microcephaly, or macrocephaly
N/A
50.00% Male
2620000
1
0
1
nguyen_13_DD/ID/MCA/ASD_discovery_cases
Patients from the Developmental Gene Anatomy Project at Harvard Medical School (DGAP), the Developmental Gene Discovery Project at Georgia Health Sciences University (DGDP), the National Institute of General Medical Sciences Human Genetic Cell Repository (NIGMS), the Signature Genomic Laboratories Genoglyphix Chromosome Aberration Database, 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
N/A
0
1
1
wu_24_ASD/ADHD/DD/ID_discovery_cases
Children with unexplained neurodevelopmental disorders and one of more neurodevelopmental comorbidities who had undergone trio-WES and were admitted to the Children's Medical Center of Sun Yat-sen Memorial Hospital, Sun Yat-sen University from October 2018 to December 2022.
163
Diagnoses of ASD, ADHD, and/or global developmental delay/intellectual disability were made following DSM-V diagnostic criteria.
6353159
0
1
1
Controls
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
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
0
3
3
Cases
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
nebel_15_DD/ID_discovery_cases
N/A
N/A
N/A
N/A
nguyen_13_DD/ID/MCA/ASD_discovery_cases
N/A
aCGH
SignatureChip BACs aCGH, SignatureChip Oligo whole-genome microarray
N/A
wu_24_ASD/ADHD/DD/ID_discovery_cases
China
WES
Illumina Novaseq 6000
Picard v.2.18.2, GATK Haplotype Caller v.4.0.4, ANNOVAR v2019/10/24
CMA
Controls
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
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
nebel_15_DD/ID_discovery_cases-case2
N/A
F
Microcephaly
Case originally described in Gallant et al., 2011. Microcephaly
N/A
13789186
16409189
2620004
GRCh38
Deletion
N/A
nguyen_13_DD/ID/MCA/ASD_discovery_cases-patient227
N/A
N/A
DD/ID/MCA
N/A
N/A
N/A
N/A
N/A
GRCh37
Duplication
N/A
wu_24_ASD/ADHD/DD/ID_discovery_cases-case59
1.9 yrs.
M
ASD and developmental delay/intellectual disability
Severe-profound global developmental delay/intellectual disabillity, comorbid diagnosis of ASD, dysmorphic facial features (hypertelorism, broad nasal bridge, almond-shaped eyes), microcephaly, ventricular septal defect/patent ductus arteriosus, short stature (height <-3 SD).
Severe-profound global developmental delay/intellectual disability
12043805
18396963
6353159
GRCh38
Duplication
Yes
Controls
Patient ID
Author, Year
Age
Gender
Primary Diagnosis
Clinical Profile
Cognitive Profile
CNV Start
CNV End
CNV Size
Genome Build
Type Method
Validation
nguyen_13_DD/ID/MCA/ASD_discovery_controls-control48
N/A
N/A
Control
N/A
N/A
N/A
N/A
N/A
GRCh37
Duplication
N/A
nguyen_13_DD/ID/MCA/ASD_discovery_controls-control49
N/A
N/A
Control
N/A
N/A
N/A
N/A
N/A
GRCh37
Duplication
N/A
nguyen_13_DD/ID/MCA/ASD_discovery_controls-control50
N/A
N/A
Control
N/A
N/A
N/A
N/A
N/A
GRCh37
Duplication
N/A
Cases
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
nebel_15_DD/ID_discovery_cases-case2
CNV validation N/A
De novo
RN7SL619P,MIR24-2,MIR27A,MIR23A,MIR181C,MIR181D,RLN3,EEF1DP1,MIR1199,C19orf67,RN7SL231P,PTGER1,SNRPGP15,MIR639,NDUFB7,RN7SL337P,RN7SL842P,OR7A8P,OR7A2P,OR7A17,OR7A18P,OR7A3P,OR7A11P,OR7A15P,CCDC105,SYDE1,OR10B1P,RNU6-782P,MIR6795,EPHX3,MIR1470,RASAL3,RPL23AP2,CYP4F10P,OR10H3,ZNF861P,LINC01764,UCA1,CYP4F36P,OR10H4,SNX33P1,OR1AB1P,LINC01855,KLF2,ZSWIM4,NANOS3,CC2D1A,PODNL1,DCAF15,RFX1,IL27RA,PALM3,MISP3,SAMD1,PRKACA,ASF1B,LINC01841,LINC01842,ADGRE5,PKN1,GIPC1,DNAJB1,CLEC17A,ZNF333,ADGRE2,OR7A5,OR7A10,OR7A1P,SLC1A6,CASP14,OR1I1,ILVBL,NOTCH3,BRD4,AKAP8,AKAP8L,WIZ,PGLYRP2,CYP4F22,CYP4F23P,CYP4F8,CYP4F3,CYP4F12,CYP4F24P,OR10H5,OR10H1,CYP4F2,CYP4F11,LINC00661,LINC00905,TPM4,HSH2D,CIB3,FAM32A,AP1M1,C19orf57,ADGRL1,DDX39A,TECR,OR7C1,OR7C2,LINC01835,CYP4F9P,RAB8A,EPS15L1,ADGRE3,OR10H2
nguyen_13_DD/ID/MCA/ASD_discovery_cases-patient227
Unknown
Unknown
Unknown
Minimum CNV gene content: UPF1
wu_24_ASD/ADHD/DD/ID_discovery_cases-case59
CMA
De novo
Simplex
BST2,CALR,CACNA1A,GET3,ADGRE5,NR2F6,DNASE2,DHPS,FARSA,OR7A8P,SNORD41,OR10H1,OR7A15P,OR10H3,OR10H2,AKAP8L,OR7A3P,ARRDC2,OR7A17,OR7C1,SNORA68,OR7A5,CPAMD8,OR7C2,OR7A11P,WDR83OS,TNPO2,ZNF44,BABAM1,HOOK2,ADGRE2,C19orf53,ASF1B,MAP1S,PGPEP1,BEST2,CC2D1A,TRMT1,CYP4F11,USE1,ANO8,ZNF490,WIZ,EPS15L1,RASAL3,SMIM7,CYP4F12,SLC35E1,ABHD8,DDA1,PODNL1,ZSWIM4,OCEL1,TRIR,MRPL34,COLGALT1,EPHX3,TMEM38A,BRME1,ZNF333,ZNF442,OR1AB1P,RTBDN,C19orf44,FBXW9,WDR83,IQCN,USHBP1,YJU2B,OR7A18P,PLVAP,MRI1,MPV17L2,GTPBP3,ZNF799,NACC1,MISP3,SAMD1,SYDE1,GADD45GIP1,ADGRE3,DCAF15,HSH2D,MVB12A,HAUS8,ZNF625,LINC00661,PGLYRP2,OR1I1,RLN3,CCDC124,LRRC25,EEF1DP1,CIB3,ANKLE1,CYP4F22,CCDC105,NXNL1,OR10H4,CALR3,ZNF563,LINC00905,ZNF709,ZNF791,ZNF564,NIBAN3,DAND5,DNAJB1,IL12RB1,GCDH,INSL3,ZNF844,MIR23AHG,SYCE2,RPL10P16,NWD1,OR10H5,PALM3,NANOS3,CYP4F24P,CLEC17A,SLC27A1,ZNF788P,OR7A10,OR7A2P,OR7A1P,OR10B1P,MIR181C,MIR27A,RPL23AP2,MIR24-2,MIR23A,MIR181D,C19orf67,CYP4F10P,MIR639,UCA1,ZNF878,RPS6P25,SNRPGP15,TMEM221,RPL12P42,MAN2B1,JUNB,LYL1,JUND,CYP4F3,NOTCH3,JAK3,KCNN1,NFIX,RAB8A,NDUFB7,MYO9B,RPL39P38,RPS18P13,RPS29P23,MIR1470,ZNF861P,ITGB1P1,CYP4F36P,CYP4F23P,PPIAP20,RSL24D1P8,MIR3189,MIR3188,SNX33P1,ADGRL1-AS1,ZNF625-ZNF20,PGLS-DT,MIR5695,MIR5684,RNA5SP466,RNA5SP467,PKN1,PGK1P2,RAD23A,PIK3R2,PTGER1,RAB3A,RFX1,PDE4C,RPL18A,PRKACA,ZNF433-AS1,LINC01842,MIR6795,MIR6794,MIR1199,MIR6515,CLEC4OP,BISPR,CYP4F9P,LINC01855,LINC01764,GNG14,LINC01841,FARSA-AS1,SLC5A5,SLC1A6,TPM4,PRDX2,RN7SL835P,RN7SL842P,RN7SL823P,RN7SL337P,RN7SL231P,RNA5SP468,RN7SL513P,RN7SL619P,RNU6-782P,RN7SL146P,MTCO2P27,MTCO1P27,MTND2P40,MTATP6P27,CCDC194,THSD8,CYP4F2,ZNF20,STX10,AP1M1,ZNF136,F2RL3,ILVBL-AS1,MAST3-AS1,KLF2-DT,TECR,IER2,GDF15,MED26,DDX39A,IL27RA,ZNF443,RNASEH2A,ILVBL,IFI30,KLF1,KLF2,ADGRL1,CHERP,GIPC1,CYP4F8,AKAP8,B3GNT3,FCHO1,FAM32A,MAST1,CASP14,PGLS,LSM4,BRD4,UNC13A,MAST3,SIN3B
Controls
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
nguyen_13_DD/ID/MCA/ASD_discovery_controls-control48
Unknown
Unknown
Minimum CNV gene content: UPF1
nguyen_13_DD/ID/MCA/ASD_discovery_controls-control49
Unknown
Unknown
Minimum CNV gene content: UPF1
nguyen_13_DD/ID/MCA/ASD_discovery_controls-control50
Unknown
Unknown
Minimum CNV gene content: UPF1
No Animal Model Data Available