4p16.3-p15.1CNV Type: Duplication
Largest CNV size: 32746190 bp
Statistics Box:
Number of Reports: 2
Number of Reports: 2
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
Array-CGH Analysis in a Cohort of Phenotypically Well-Characterized Individuals with Essential Autism Spectrum Disorders.
Duplication
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
32746190
0
1
1
napoli_17_ASD_discovery_cases
Children recruited between June 2009 and December 2014 at the Child Neuopsychiatry Unit of Bambino Gesu Children's Hospital, IRCCS, Rome, Italy
133
Inclusion criteria included a clinical diagnosis of pervasive developmental disorders (PDD) and of ASD, according to DSM-IV-TR and DSM-5 criteria, respectively, and fewer than six dysmorphic features (children with six or more minor anomalies and/or systemic congenital malformations, such as congenital heart defects, were excluded). Cognitive or developmental level was assessed by the brief intelligence quotient (IQ) from Leiter-R or by the general quotient (GQ) from Griffiths Mental Development Scales Extended Revised for age 2-8, GMDS-ER 2-8 (mean IQ, 73.7 24.3). The calibrated severity score (CSS) index was also calculated to quantify autism symptoms independently (median score of 7, r
Mean, 6.7 3.0 years
84.96% Male
28330000
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
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
napoli_17_ASD_discovery_cases
Italy
aCGH
Agilent Human Genome 4x180K
ADM-2
Feature Extraction v.10.5, Agilent Genomic Workbench Lite Edition v.7.4
RT-PCR
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
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001168
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
72555
33130620
33058066
GRCh38
Duplication
Yes
napoli_17_ASD_discovery_cases-case40
N/A
M
ASD
Case diagnosed with ASD according to DSM-5 criteria. Congenital anomalies: none. Dysmorphic features: fewer than six. Karyotype: 46,XY
45886
28373163
28327278
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
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001168
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
MIR571,ZNF519P4,TMEM271,ATP5ME,MYL5,NKX1-1,SCARNA22,MIR943,C4orf48,COX6B1P5,MIR4800,RN7SL589P,RNU6-204P,HGFAC,LINC02171,LINC02600,OR7E163P,OR7E162P,ALG1L7P,ENPP7P9,OR4D12P,OR7E99P,OR7E43P,STX18-IT1,RPS7P15,MSX1,LDHAP1,RN7SKP113,CYTL1,RN7SKP275,LINC01587,MIR378D1,MRFAP1,LINC002481,S100P,MRFAP1L1,RN7SKP292,CCDC96,LINC02447,RN7SKP36,MIR4798,PSAPL1,MIR4274,MIR95,GMPSP1,RNA5SP152,SNRPCP16,ALG1L14P,USP17L10,USP17L11,USP17L12,USP17L13,USP17L14P,USP17L15,USP17L17,USP17L18,USP17L19,USP17L20,USP17L21,USP17L22,USP17L23,USP17L24,USP17L25,USP17L26,USP17L5,USP17L27,USP17L28,USP17L29,USP17L9P,USP17L30,USP17L6P,DEFB108F,RNA5SP153,DEFB130D,DEFB131A,OR7E86P,OR7E85P,UNC93B7,OR7E83P,MIR548I2,SNRPCP13,ENPP7P11,ALG1L3P,OR7E35P,DRD5,RNA5SP154,MIR3138,RNA5SP155,MIR572,RNPS1P1,RNA5SP156,RNU6-578P,ECM1P2,NKX3-2,LINC01096,MIR5091,MTND2P31,RN7SKP170,HPRT1P1,FGFBP1,FGFBP2,RPS21P4,MTND5P4,LINC02493,SNORA75B,RPS7P6,CLRN2,NACAP5,KRT18P63,RNA5SP157,SLIT2-IT1,MIR218-1,MIR7978,KCNIP4-IT1,RNU6-420P,CDC42P6,RFPL4AP3,MIR573,RN7SL16P,ATP5MGP3,LINC02473,HNRNPA1P65,SOD3,RNU7-126P,RPS29P11,MTND4P9,MTND4LP22,MTND3P5,MTCO3P44,CCKAR,IGBP1P5,RN7SL101P,MIR4275,MESTP3,LINC02472,EEF1A1P21,RPS3AP17,MTCYBP43,LINC02353,ZNF595,ZNF876P,ZNF732,ZNF141,ABCA11P,ZNF721,SLC49A3,PCGF3,TMEM175,DGKQ,SLC26A1,IDUA,FGFRL1,RNF212,TMED11P,CTBP1-AS,CTBP1,CTBP1-DT,UVSSA,FAM53A,TMEM129,TACC3,FGFR3,NELFA,NAT8L,MXD4,CFAP99,SH3BP2,MFSD10,NOP14-AS1,NOP14,HTT-AS,MSANTD1,DOK7,LRPAP1,LINC00955,ADRA2C,FAM86EP,UNC93B4,TMEM128,LYAR,ZBTB49,NSG1,LINC02495,MAN2B2,LINC02482,BLOC1S4,TADA2B,GRPEL1,AFAP1-AS1,SH3TC1,HTRA3,LINC02517,TRMT44,GPR78,CPZ,HMX1,UNC93B8,ENPP7P10,FAM86KP,USP17L16P,OR7E84P,RAF1P1,ZNF518B,LINC02360,LINC02270,HSP90AB2P,LINC01097,BOD1L1,LINC01085,CPEB2,C1QTNF7,FBXL5,FAM200B,CD38,TAPT1,QDPR,LAP3,MED28,DCAF16,DHX15,LGI2,SEPSECS,PI4K2B,ZCCHC4,ANAPC4,SLC34A2,SMIM20,LINC02364,LINC02501,ZNF718,PIGG,PDE6B,CPLX1,GAK,SPON2,MAEA,SLBP,LETM1,NSD2,HAUS3,ZFYVE28,RNF4,FAM193A,TNIP2,ADD1,GRK4,RGS12,STX18,STX18-AS1,LINC01396,EVC2,EVC,CRMP1,C4orf50,JAKMIP1,PPP2R2C,KIAA0232,TBC1D14,AFAP1,ABLIM2,FAM90A26,FAM86MP,SLC2A9,WDR1,CLNK,LINC02498,HS3ST1,RAB28,LINC01182,CPEB2-DT,CC2D2A,PROM1,TAPT1-AS1,ZEB2P1,FAM184B,LCORL,LINC02438,SLIT2,PACRGL,ADGRA3,GBA3,ERVH-1,PPARGC1A,CCDC149,SEL1L3,LINC02357,TBC1D19,STIM2,PCDH7,LINC02497,LINC02506,POLN,HTT,OTOP1,STK32B,WFS1,SORCS2,LINC00504,BST1,NCAPG,KCNIP4,RBPJ,LINC02261,ACOX3,LDB2,SEPSECS-AS1
napoli_17_ASD_discovery_cases-case40
RT-PCR
De novo
MIR571,ZNF519P4,TMEM271,ATP5ME,MYL5,NKX1-1,SCARNA22,MIR943,C4orf48,COX6B1P5,MIR4800,RN7SL589P,RNU6-204P,HGFAC,LINC02171,LINC02600,OR7E163P,OR7E162P,ALG1L7P,ENPP7P9,OR4D12P,OR7E99P,OR7E43P,STX18-IT1,RPS7P15,MSX1,LDHAP1,RN7SKP113,CYTL1,RN7SKP275,LINC01587,MIR378D1,MRFAP1,LINC002481,S100P,MRFAP1L1,RN7SKP292,CCDC96,LINC02447,RN7SKP36,MIR4798,PSAPL1,MIR4274,MIR95,GMPSP1,RNA5SP152,SNRPCP16,ALG1L14P,USP17L10,USP17L11,USP17L12,USP17L13,USP17L14P,USP17L15,USP17L17,USP17L18,USP17L19,USP17L20,USP17L21,USP17L22,USP17L23,USP17L24,USP17L25,USP17L26,USP17L5,USP17L27,USP17L28,USP17L29,USP17L9P,USP17L30,USP17L6P,DEFB108F,RNA5SP153,DEFB130D,DEFB131A,OR7E86P,OR7E85P,UNC93B7,OR7E83P,MIR548I2,SNRPCP13,ENPP7P11,ALG1L3P,OR7E35P,DRD5,RNA5SP154,MIR3138,RNA5SP155,MIR572,RNPS1P1,RNA5SP156,RNU6-578P,ECM1P2,NKX3-2,LINC01096,MIR5091,MTND2P31,RN7SKP170,HPRT1P1,FGFBP1,FGFBP2,RPS21P4,MTND5P4,LINC02493,SNORA75B,RPS7P6,CLRN2,NACAP5,KRT18P63,RNA5SP157,SLIT2-IT1,MIR218-1,MIR7978,KCNIP4-IT1,RNU6-420P,CDC42P6,RFPL4AP3,MIR573,RN7SL16P,ATP5MGP3,LINC02473,HNRNPA1P65,SOD3,RNU7-126P,RPS29P11,MTND4P9,MTND4LP22,MTND3P5,MTCO3P44,CCKAR,IGBP1P5,BNIP3P41,ZNF595,ZNF876P,ZNF732,ZNF141,ABCA11P,ZNF721,SLC49A3,PCGF3,TMEM175,DGKQ,SLC26A1,IDUA,FGFRL1,RNF212,TMED11P,CTBP1-AS,CTBP1,CTBP1-DT,UVSSA,FAM53A,TMEM129,TACC3,FGFR3,NELFA,NAT8L,MXD4,CFAP99,SH3BP2,MFSD10,NOP14-AS1,NOP14,HTT-AS,MSANTD1,DOK7,LRPAP1,LINC00955,ADRA2C,FAM86EP,UNC93B4,TMEM128,LYAR,ZBTB49,NSG1,LINC02495,MAN2B2,LINC02482,BLOC1S4,TADA2B,GRPEL1,AFAP1-AS1,SH3TC1,HTRA3,LINC02517,TRMT44,GPR78,CPZ,HMX1,UNC93B8,ENPP7P10,FAM86KP,USP17L16P,OR7E84P,RAF1P1,ZNF518B,LINC02360,LINC02270,HSP90AB2P,LINC01097,BOD1L1,LINC01085,CPEB2,C1QTNF7,FBXL5,FAM200B,CD38,TAPT1,QDPR,LAP3,MED28,DCAF16,DHX15,LGI2,SEPSECS,PI4K2B,ZCCHC4,ANAPC4,SLC34A2,SMIM20,ZNF718,PIGG,PDE6B,CPLX1,GAK,SPON2,MAEA,SLBP,LETM1,NSD2,HAUS3,ZFYVE28,RNF4,FAM193A,TNIP2,ADD1,GRK4,RGS12,STX18,STX18-AS1,LINC01396,EVC2,EVC,CRMP1,C4orf50,JAKMIP1,PPP2R2C,KIAA0232,TBC1D14,AFAP1,ABLIM2,FAM90A26,FAM86MP,SLC2A9,WDR1,CLNK,LINC02498,HS3ST1,RAB28,LINC01182,CPEB2-DT,CC2D2A,PROM1,TAPT1-AS1,ZEB2P1,FAM184B,LCORL,LINC02438,SLIT2,PACRGL,ADGRA3,GBA3,ERVH-1,PPARGC1A,CCDC149,SEL1L3,LINC02357,TBC1D19,STIM2,POLN,HTT,OTOP1,STK32B,WFS1,SORCS2,LINC00504,BST1,NCAPG,KCNIP4,RBPJ,LINC02261,ACOX3,LDB2,SEPSECS-AS1
Controls
No Control Data Available
No Animal Model Data Available