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3p26.3-p24.3CNV Type: Duplication


Largest CNV size: 20227874 bp

Statistics Box:
Number of Reports: 2



Summary Information

Duplications 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

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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
NA
Duplication

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
 20227874
 0
 2
 2
 kim_18_DD/ID_discovery_cases
  NA NA
 Individuals who had visited Konyang University Hospital for evaluation of unexplained DD/ID in a one year period (September 2013-October 2014)
 50
 All cases presented with developmental delay/intellectual disability (DD/ID); 19 cases (38.0 %) presented with epilepsy, 9 cases (18.0%) presented with autism
 Mean age, 5.4 5.9 yrs. (Range, 0.1-32 yrs.)
 52.0% Male
 18000000
 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
 kim_18_DD/ID_discovery_cases
  Korean
 Array SNP
  Affymetrix CytoScan 750K
 
 Affymetrix ChAS
 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
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002225
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 63843
 19510600
  19446758
 GRCh38
 Duplication
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004549
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 52066
 20280127
  20228062
 GRCh38
 Duplication
 Yes
  kim_18_DD/ID_discovery_cases-case1
  NA NA
 6 yrs.
 F
 Developmental delay/intellectual disability
 Dysmorphic features, hypotonia
 Severe developmental delay/intellectual disability
 193080
 18318746
  18125667
 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
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002225
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Unknown
 Unknown
 Unknown
 RNU6-1194P,RPS8P6,RPSAP32,RN7SL120P,CRB3P1,RPL23AP38,RPL23AP39,RPL21P17,RN7SKP144,HINT2P1,DNAJC19P4,PNPT1P1,MRPS10P2,ITPR1-DT,RNF10P1,UBTFL8,MIR4790,RN7SL553P,MRPS36P1,GRM7-AS2,RNU4ATAC17P,SRGAP3-AS1,SRGAP3-AS2,SRGAP3-AS3,PGAM1P4,RPUSD3,JAGN1,RNU6-882P,PRRT3,PRRT3-AS1,CYCSP10,RNU6-670P,CYCSP11,LINC00852,MIR378B,MIR885,ATP2B2-IT2,LINC00606,CHCHD4P4,CYCSP12,NUP210P2,RN7SL147P,ACTG1P12,MTCO1P5,GSTM5P1,RNA5SP123,RNU6-377P,CRIP1P1,KRT18P17,RPL32,SNORA7A,HDAC11-AS1,VN1R20P,FGD5P1,VN1R21P,RNA5SP124,RNU6-905P,RHBDF1P1,RPS3AP53,SH3BP5-AS1,RNU6-454P,HMGN2P7,RNU6-1024P,MIR4270,RN7SL110P,MIR3134,RN7SL4P,MIR563,IMPDH1P8,DPH3,LINC00690,CDYLP1,MIR3714,PLCL2-AS1,RNU7-10P,PDCL3P3,RAD23BP1,RNU6-138P,MIR4791,CHL1-AS2,CHL1-AS1,CNTN4-AS2,CNTN4-AS1,IL5RA,SETMAR,EGOT,BHLHE40-AS1,ARL8B,EDEM1,GRM7-AS1,OR7E122P,OXTR,SRGAP3-AS4,THUMPD3-AS1,THUMPD3,LHFPL4,DUSP5P2,CPNE9,BRPF1,OGG1,CAMK1,TADA3,ARPC4,CIDEC,IL17RE,IL17RC,CRELD1,EMC3,EMC3-AS1,BRK1,VHL,TATDN2,GHRL,GHRLOS,SEC13,ATP2B2-IT1,FANCD2P2,MARK2P14,TIMP4,TSEN2,MKRN2OS,RAF1,TMEM40,LINC02022,LINC00620,WNT7A,CHCHD4,TMEM43,LSM3,LINC01267,CCDC174,NR2C2,MRPS25,CAPN7,METTL6,EAF1,EAF1-AS1,BTD,GALNT15,OXNAD1,CHL1,LINC01266,CNTN6,CNTN4,LRRN1,ITPR1,BHLHE40,GRM7-AS3,LMCD1,SSUH2,CAV3,RAD18,SRGAP3,MTMR14,ARPC4-TTLL3,TTLL3,FANCD2,FANCD2OS,IRAK2,SLC6A11,SLC6A1,SLC6A1-AS1,HRH1,VGLL4,TAMM41,SYN2,PPARG,CAND2,IQSEC1,NUP210,HDAC11,TPRXL,XPC,SLC6A6,GRIP2,LINC02011,FGD5,FGD5-AS1,RBSN,COL6A4P1,SH3BP5,COLQ,HACL1,RFTN1,DAZL,PLCL2,SATB1,KCNH8,TRNT1,CRBN,SUMF1,GRM7,SETD5,ATP2B2,ATG7,MKRN2,FBLN2,C3orf20,ANKRD28,TBC1D5,SATB1-AS1,LMCD1-AS1
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004549
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Unknown
 Unknown
 Unknown
 RNU6-1194P,RPS8P6,RPSAP32,RN7SL120P,CRB3P1,RPL23AP38,RPL23AP39,RPL21P17,RN7SKP144,HINT2P1,DNAJC19P4,PNPT1P1,MRPS10P2,ITPR1-DT,RNF10P1,UBTFL8,MIR4790,RN7SL553P,MRPS36P1,GRM7-AS2,RNU4ATAC17P,SRGAP3-AS1,SRGAP3-AS2,SRGAP3-AS3,PGAM1P4,RPUSD3,JAGN1,RNU6-882P,PRRT3,PRRT3-AS1,CYCSP10,RNU6-670P,CYCSP11,LINC00852,MIR378B,MIR885,ATP2B2-IT2,LINC00606,CHCHD4P4,CYCSP12,NUP210P2,RN7SL147P,ACTG1P12,MTCO1P5,GSTM5P1,RNA5SP123,RNU6-377P,CRIP1P1,KRT18P17,RPL32,SNORA7A,HDAC11-AS1,VN1R20P,FGD5P1,VN1R21P,RNA5SP124,RNU6-905P,RHBDF1P1,RPS3AP53,SH3BP5-AS1,RNU6-454P,HMGN2P7,RNU6-1024P,MIR4270,RN7SL110P,MIR3134,RN7SL4P,MIR563,IMPDH1P8,DPH3,LINC00690,CDYLP1,MIR3714,PLCL2-AS1,RNU7-10P,PDCL3P3,RAD23BP1,RNU6-138P,MIR4791,HSPA8P18,RNU4-85P,SAP18P3,RPL39P18,MIR3135A,RNU6-822P,CHL1-AS2,CHL1-AS1,CNTN4-AS2,CNTN4-AS1,IL5RA,SETMAR,EGOT,BHLHE40-AS1,ARL8B,EDEM1,GRM7-AS1,OR7E122P,OXTR,SRGAP3-AS4,THUMPD3-AS1,THUMPD3,LHFPL4,DUSP5P2,CPNE9,BRPF1,OGG1,CAMK1,TADA3,ARPC4,CIDEC,IL17RE,IL17RC,CRELD1,EMC3,EMC3-AS1,BRK1,VHL,TATDN2,GHRL,GHRLOS,SEC13,ATP2B2-IT1,FANCD2P2,MARK2P14,TIMP4,TSEN2,MKRN2OS,RAF1,TMEM40,LINC02022,LINC00620,WNT7A,CHCHD4,TMEM43,LSM3,LINC01267,CCDC174,NR2C2,MRPS25,CAPN7,METTL6,EAF1,EAF1-AS1,BTD,GALNT15,OXNAD1,RAB5A,PP2D1,CHL1,LINC01266,CNTN6,CNTN4,LRRN1,ITPR1,BHLHE40,GRM7-AS3,LMCD1,SSUH2,CAV3,RAD18,SRGAP3,MTMR14,ARPC4-TTLL3,TTLL3,FANCD2,FANCD2OS,IRAK2,SLC6A11,SLC6A1,SLC6A1-AS1,HRH1,VGLL4,TAMM41,SYN2,PPARG,CAND2,IQSEC1,NUP210,HDAC11,TPRXL,XPC,SLC6A6,GRIP2,LINC02011,FGD5,FGD5-AS1,RBSN,COL6A4P1,SH3BP5,COLQ,HACL1,RFTN1,DAZL,PLCL2,SATB1,KCNH8,KAT2B,SGO1,TRNT1,CRBN,SUMF1,GRM7,SETD5,ATP2B2,ATG7,MKRN2,FBLN2,C3orf20,ANKRD28,TBC1D5,SATB1-AS1,EFHB,SGO1-AS1,LMCD1-AS1
 
 kim_18_DD/ID_discovery_cases-case1
 
 
 Unknown
 
 
 RNU6-1194P,RPS8P6,RPSAP32,RN7SL120P,CRB3P1,RPL23AP38,RPL23AP39,RPL21P17,RN7SKP144,HINT2P1,DNAJC19P4,PNPT1P1,MRPS10P2,ITPR1-DT,RNF10P1,UBTFL8,MIR4790,RN7SL553P,MRPS36P1,GRM7-AS2,RNU4ATAC17P,SRGAP3-AS1,SRGAP3-AS2,SRGAP3-AS3,PGAM1P4,RPUSD3,JAGN1,RNU6-882P,PRRT3,PRRT3-AS1,CYCSP10,RNU6-670P,CYCSP11,LINC00852,MIR378B,MIR885,ATP2B2-IT2,LINC00606,CHCHD4P4,CYCSP12,NUP210P2,RN7SL147P,ACTG1P12,MTCO1P5,GSTM5P1,RNA5SP123,RNU6-377P,CRIP1P1,KRT18P17,RPL32,SNORA7A,HDAC11-AS1,VN1R20P,FGD5P1,VN1R21P,RNA5SP124,RNU6-905P,RHBDF1P1,RPS3AP53,SH3BP5-AS1,RNU6-454P,HMGN2P7,RNU6-1024P,MIR4270,RN7SL110P,MIR3134,RN7SL4P,MIR563,IMPDH1P8,DPH3,LINC00690,CDYLP1,MIR3714,PLCL2-AS1,RNU7-10P,PDCL3P3,CHL1-AS2,CHL1-AS1,CNTN4-AS2,CNTN4-AS1,IL5RA,SETMAR,EGOT,BHLHE40-AS1,ARL8B,EDEM1,GRM7-AS1,OR7E122P,OXTR,SRGAP3-AS4,THUMPD3-AS1,THUMPD3,LHFPL4,DUSP5P2,CPNE9,BRPF1,OGG1,CAMK1,TADA3,ARPC4,CIDEC,IL17RE,IL17RC,CRELD1,EMC3,EMC3-AS1,BRK1,VHL,TATDN2,GHRL,GHRLOS,SEC13,ATP2B2-IT1,FANCD2P2,MARK2P14,TIMP4,TSEN2,MKRN2OS,RAF1,TMEM40,LINC02022,LINC00620,WNT7A,CHCHD4,TMEM43,LSM3,LINC01267,CCDC174,NR2C2,MRPS25,CAPN7,METTL6,EAF1,EAF1-AS1,BTD,GALNT15,OXNAD1,CHL1,LINC01266,CNTN6,CNTN4,LRRN1,ITPR1,BHLHE40,GRM7-AS3,LMCD1,SSUH2,CAV3,RAD18,SRGAP3,MTMR14,ARPC4-TTLL3,TTLL3,FANCD2,FANCD2OS,IRAK2,SLC6A11,SLC6A1,SLC6A1-AS1,HRH1,VGLL4,TAMM41,SYN2,PPARG,CAND2,IQSEC1,NUP210,HDAC11,TPRXL,XPC,SLC6A6,GRIP2,LINC02011,FGD5,FGD5-AS1,RBSN,COL6A4P1,SH3BP5,COLQ,HACL1,RFTN1,DAZL,PLCL2,TRNT1,CRBN,SUMF1,GRM7,SETD5,ATP2B2,ATG7,MKRN2,FBLN2,C3orf20,ANKRD28,TBC1D5,LMCD1-AS1
 

Controls

No Control Data Available
No Animal Model Data Available
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