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3q24-q29CNV Type: Duplication


Largest CNV size: 50585464 bp

Statistics Box:
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

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Decipher

            Decipher Symbol

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 Role of mGluR Copy Number Variation in Genetic and Environmental Forms of Syndromic Autism Spectrum Disorder.
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
 50585464
 0
 1
 1
 wenger_16_ASD_discovery_cases
 ASD cases with CNVs containing genes involved in the mGluR network from an initial cohort of 539 cases
 62
 ASD
 N/A
 N/A
 46567239
 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
 wenger_16_ASD_discovery_cases
  N/A
 Solid phase hybridization
  Illumina HumanHap 550 or Illumina Human610-Quad v1.0
 PennCNV
 
 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-ISCA00002081
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 147521892
 198096565
  50574674
 GRCh38
 Duplication
 Yes
  wenger_16_ASD_discovery_cases-case14
 N/A
 N/A
 ASD
 Prior clinical diagnosis of genetic syndrome: Unbalanced karyotype from complex 3-way translocation, dup of 47 Mb in 3q24q29, Del of 2.87 Mb within 4q35.2
 
 149000608
 195558791
  46558184
 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-ISCA00002081
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Unknown
 Unknown
 Unknown
 NPM1P28,HNRNPA1P20,RPL38P1,HMGB1P30,UBQLN4P1,MED28P2,TM4SF1-AS1,FKBP1AP4,RNU6-1098P,WWTR1-IT1,WWTR1-AS1,RNU6-507P,RNU6-720P,NPM1P29,TMEM183B,PPIAP73,HNRNPA1P24,LINC01998,RPL32P9,LINC01213,SNRPCP3,SIAH2-AS1,RNA5SP145,GPR171,SETP11,P2RY13,MRPL42P6,MIR5186,MBNL1-AS1,TMEM14EP,ATP5MGP5,P2RY1,HMGN2P13,RAP2B,RN7SL300P,RNU6-901P,RPL21P42,SYPL1P1,DYNLL1P5,RPL9P15,LINC01487,DWORF,PABPC1P10,RN7SL715P,PLCH1-AS2,RPL6P7,SETP14,ALG1L15P,MRE11P1,KCNAB1-AS1,TIPARP-AS1,METTL15P1,PA2G4P4,KLF3P2,RN7SKP177,LINC02029,LINC00881,KRT18P34,RNA5SP146,PTX3,RN7SKP46,MTAPP1,GPR79,MIR3919,IQCJ-SCHIP1-AS1,RNU2-31P,BRD7P2,C3orf80,MIR15B,MIR16-2,B3GAT3P1,RNU7-136P,SCARNA7,KRT8P12,RPL6P8,EEF1GP4,PSMC1P7,RPL23AP42,TOMM22P6,RPS6P4,RNU7-82P,MIR1263,SLITRK3,MTND4P17,MTND4LP10,MTND3P7,MTCO3P38,MCUR1P2,LINC01326,RN7SKP298,PSAT1P4,CBX1P5,PPIAP74,HMGN1P8,MEMO1P3,HMGN2P26,RNU2-20P,MIR551B,RPSAP33,RPL21P43,LINC01997,RPL22P1,RNU6-637P,TERC,ACTRT3,KRT18P43,RNU4-38P,RNU6-315P,MIR6828,KRT8P13,KLF7P1,RNU1-70P,MIR569,RNU6-348P,TMEM212-IT1,RPS27AP8,RN7SL141P,BZW1P1,GHSR,SLC31A1P1,RNU6-547P,RNU4-4P,ATP5MC1P4,RN7SKP234,RN7SKP40,EEF1B2P8,MIR4789,RNU6-1233P,RNU4-91P,RNU6-1317P,NAALADL2-AS1,ACTG1P23,EI24P1,MIR7977,RNA5SP147,MTND5P15,RNU6-681P,ASS1P7,RN7SKP52,RNU6-1120P,RNA5SP148,PPIAP75,LRRFIP1P1,ZNF639,MTHFD2P7,RNA5SP149,GAPDHP36,RNU6-486P,RN7SL229P,FLYWCH1P1,DNAJC19,RNU6-4P,FAUP2,RPL7AP25,SOX2,RN7SL703P,RNA5SP150,RN7SKP265,EIF4EP3,RPL7L1P8,MCCC1-AS1,RNA5SP151,SNORA63D,YEATS2-AS1,MAP6D1,RPSAP31,MIR4448,EEF1A1P8,HTR3D,HTR3E-AS1,HTR3E,HSP90AA5P,AP2M1,MIR1224,ALG3,CAMK2N2,SNORD66,POLR2H,THPO,LINC01839,MAGEF1,EIF2S2P2,MIR5588,MIR548AQ,ETV5-AS1,LINC02051,CRYGS,RNU6-1105P,GPS2P2,EIF4A2,SNORD2,MIR1248,SNORA81,SNORA63,SNORA4,LINC02043,ADIPOQ-AS1,RPS20P14,RTP1,RTP4,SST,RTP2,FLJ42393,MIR28,TPRG1-AS1,TPRG1-AS2,MIR944,MTAPP2,RNU6-1109P,NMNAT1P3,GCNT1P3,RN7SKP296,LINC02013,CCT6P4,PYDC2,RN7SKP222,FGF12-AS2,FGF12-AS3,RNU1-20P,VEZF1P1,ATP13A5-AS1,ATP13A4-AS1,RN7SL447P,LINC02038,DPPA2P3,HES1,RN7SL215P,RNU6-1101P,RPL23AP93,TMEM44-AS1,FAM43A,LINC01972,XXYLT1-AS1,MIR3137,RN7SL36P,RNU6-25P,RNU6ATAC24P,RN7SL73P,MUC20P1,MIR570,KIF3AP1,MIR6829,TNK2-AS1,RNU2-11P,RNU7-18P,TM4SF19-AS1,RNU6-910P,RNU6-1279P,RN7SL434P,RN7SL738P,UBXN7-AS1,RPS29P3,LINC01063,RNU6-646P,RNU4-89P,RNU6-42P,NCBP2-AS1,NCBP2-AS2,MIR4797,DLG1-AS1,LINC02012,MIR922,RNU6-858P,RNU6-621P,LMLN-AS1,RNU6-821P,LINC02032,AGTR1,CPB1,CPA3,GYG1,HLTF,HLTF-AS1,CP,TM4SF18,TM4SF1,TM4SF4,COMMD2,PFN2,LINC01214,TSC22D2,EIF2A,SELENOT,ERICH6,ERICH6-AS1,SIAH2,MINDY4B,CLRN1,GPR87,P2RY12,IGSF10,AADACL2,AADAC,SUCNR1,ARHGEF26-AS1,DHX36,DDX50P2,MME-AS1,C3orf33,GMPS,VN2R1P,KCNAB1-AS2,SSR3,TIPARP,LINC00880,SHOX2,GFM1,LXN,MFSD1,SCHIP1,IL12A,LINC01100,TRIM59,ARL14,LINC02067,OTOL1,LINC01323,LINC01327,SERPINI2,PDCD10,LINC02082,MYNN,LRRC34,LRRIQ4,SAMD7,SEC62,SEC62-AS1,GPR160,CLDN11,RPL22L1,EIF5A2,SLC2A2,TMEM212,TMEM212-AS1,TNFSF10,LINC02068,NCEH1,NLGN1-AS1,UBE2V1P2,LINC01208,TBL1XR1-AS1,LINC00501,LINC01014,KCNMB3,MFN1,MRPL47,NDUFB5,PEX5L-AS1,PEX5L-AS2,LINC02053,CCDC39-AS1,LINC01206,LINC01995,LINC02031,LAMP3,B3GNT5,LINC00888,KLHL6-AS1,KLHL24,PARL,CYP2AB1P,ABCC5,ABCC5-AS1,HTR3C,EIF2B5,ABCF3,VWA5B2,EEF1AKMT4,PSMD2,EIF4G1,FAM131A,CLCN2,CHRD,EPHB3,LINC02069,C3orf70,EHHADH-AS1,RPL4P4,TMEM41A,LIPH,TRA2B,NMRAL2P,ETV5,LINC02020,LINC02052,TBCCD1,DNAJB11,AHSG,HRG,KNG1,PSMD10P2,RFC4,ADIPOQ,MASP1,LINC02041,BCL6,LINC01991,LPP-AS2,LPP-AS1,P3H2-AS1,CLDN16,GMNC,UTS2B,HRASLS,OPA1-AS1,LINC02028,LINC02048,LINC00887,CPN2,LRRC15,GP5,ATP13A3,TMEM44,XXYLT1-AS2,ACAP2-IT1,PPP1R2,APOD,SDHAP2,SMBD1P,MUC20,MUC4,LINC01983,TNK2,SDHAP1,TFRC,LINC00885,ZDHHC19,TCTEX1D2,TM4SF19-TCTEX1D2,TM4SF19,UBXN7,SMCO1,WDR53,FBXO45,NRROS,PIGX,CEP19,PAK2,NCBP2,PIGZ,RPSAP69,RUBCN,FYTTD1,LRCH3,RPL35A,LMLN,ANKRD18DP,LINC02045,LINC02046,HPS3,CPHL1P,WWTR1,SERP1,MED12L,P2RY14,LINC02066,AADACL2-AS1,AADACP1,MBNL1,LINC02006,C3orf79,GPR149,MME,PLCH1,PLCH1-AS1,SLC33A1,LINC00886,LEKR1,CCNL1,PQLC2L,MLF1,RARRES1,IQCJ,IL12A-AS1,IFT80,KPNA4,PPM1L,B3GALNT1,NMD3,SPTSSB,LINC01192,LINC01324,SI,LINC02023,LINC01322,BCHE,ZBBX,WDR49,LRRC77P,GOLIM4,MECOM,PHC3,PRKCI,SKIL,SLC7A14,TNIK,PLD1,FNDC3B,ECT2,NAALADL2-AS2,LINC01209,LINC00578,LINC02015,KCNMB2,KCNMB2-AS1,ZMAT3,PIK3CA,GNB4,ACTL6A,USP13,PEX5L,TTC14,CCDC39,FXR1,ATP11B,DCUN1D1,MCCC1,MCF2L2,YEATS2,DVL3,EEF1AKMT4-ECE2,ECE2,LINC02054,VPS8,EHHADH,MAP3K13,IGF2BP2,IGF2BP2-AS1,DGKG,ST6GAL1,RPL39L,TPRG1,P3H2,CLDN1,TMEM207,IL1RAP,OSTN,OSTN-AS1,CCDC50,FGF12,FGF12-AS1,MB21D2,ATP13A5,ATP13A4,OPA1,LINC02036,LINC02037,LINC00884,LSG1,LINC01968,XXYLT1,ACAP2,MUC20-OT1,SLC51A,PCYT1A,RNF168,SENP5,MELTF,MELTF-AS1,BDH1,IQCG,ANKUB1,RNF13,ARHGEF26,KCNAB1,VEPH1,RSRC1,SMC4,EGFEM1P,LRRC31,SPATA16,NLGN1,NAALADL2,NAALADL2-AS3,TBL1XR1,SOX2-OT,LINC01994,KLHL6,SENP2,FETUB,LPP,TP63,LINC02026,DLG1,CLRN1-AS1,IQCJ-SCHIP1,SERPINI1,LINC01840
 
 wenger_16_ASD_discovery_cases-case14
 
 
 Unknown
 
 
 MED28P2,TM4SF1-AS1,FKBP1AP4,RNU6-1098P,WWTR1-IT1,WWTR1-AS1,RNU6-507P,RNU6-720P,NPM1P29,TMEM183B,PPIAP73,HNRNPA1P24,LINC01998,RPL32P9,LINC01213,SNRPCP3,SIAH2-AS1,RNA5SP145,GPR171,SETP11,P2RY13,MRPL42P6,MIR5186,MBNL1-AS1,TMEM14EP,ATP5MGP5,P2RY1,HMGN2P13,RAP2B,RN7SL300P,RNU6-901P,RPL21P42,SYPL1P1,DYNLL1P5,RPL9P15,LINC01487,DWORF,PABPC1P10,RN7SL715P,PLCH1-AS2,RPL6P7,SETP14,ALG1L15P,MRE11P1,KCNAB1-AS1,TIPARP-AS1,METTL15P1,PA2G4P4,KLF3P2,RN7SKP177,LINC02029,LINC00881,KRT18P34,RNA5SP146,PTX3,RN7SKP46,MTAPP1,GPR79,MIR3919,IQCJ-SCHIP1-AS1,RNU2-31P,BRD7P2,C3orf80,MIR15B,MIR16-2,B3GAT3P1,RNU7-136P,SCARNA7,KRT8P12,RPL6P8,EEF1GP4,PSMC1P7,RPL23AP42,TOMM22P6,RPS6P4,RNU7-82P,MIR1263,SLITRK3,MTND4P17,MTND4LP10,MTND3P7,MTCO3P38,MCUR1P2,LINC01326,RN7SKP298,PSAT1P4,CBX1P5,PPIAP74,HMGN1P8,MEMO1P3,HMGN2P26,RNU2-20P,MIR551B,RPSAP33,RPL21P43,LINC01997,RPL22P1,RNU6-637P,TERC,ACTRT3,KRT18P43,RNU4-38P,RNU6-315P,MIR6828,KRT8P13,KLF7P1,RNU1-70P,MIR569,RNU6-348P,TMEM212-IT1,RPS27AP8,RN7SL141P,BZW1P1,GHSR,SLC31A1P1,RNU6-547P,RNU4-4P,ATP5MC1P4,RN7SKP234,RN7SKP40,EEF1B2P8,MIR4789,RNU6-1233P,RNU4-91P,RNU6-1317P,NAALADL2-AS1,ACTG1P23,EI24P1,MIR7977,RNA5SP147,MTND5P15,RNU6-681P,ASS1P7,RN7SKP52,RNU6-1120P,RNA5SP148,PPIAP75,LRRFIP1P1,ZNF639,MTHFD2P7,RNA5SP149,GAPDHP36,RNU6-486P,RN7SL229P,FLYWCH1P1,DNAJC19,RNU6-4P,FAUP2,RPL7AP25,SOX2,RN7SL703P,RNA5SP150,RN7SKP265,EIF4EP3,RPL7L1P8,MCCC1-AS1,RNA5SP151,SNORA63D,YEATS2-AS1,MAP6D1,RPSAP31,MIR4448,EEF1A1P8,HTR3D,HTR3E-AS1,HTR3E,HSP90AA5P,AP2M1,MIR1224,ALG3,CAMK2N2,SNORD66,POLR2H,THPO,LINC01839,MAGEF1,EIF2S2P2,MIR5588,MIR548AQ,ETV5-AS1,LINC02051,CRYGS,RNU6-1105P,GPS2P2,EIF4A2,SNORD2,MIR1248,SNORA81,SNORA63,SNORA4,LINC02043,ADIPOQ-AS1,RPS20P14,RTP1,RTP4,SST,RTP2,FLJ42393,MIR28,TPRG1-AS1,TPRG1-AS2,MIR944,MTAPP2,RNU6-1109P,NMNAT1P3,GCNT1P3,RN7SKP296,LINC02013,CCT6P4,PYDC2,RN7SKP222,FGF12-AS2,FGF12-AS3,RNU1-20P,VEZF1P1,ATP13A5-AS1,ATP13A4-AS1,RN7SL447P,LINC02038,DPPA2P3,HES1,RN7SL215P,RNU6-1101P,RPL23AP93,TMEM44-AS1,FAM43A,LINC01972,XXYLT1-AS1,MIR3137,RN7SL36P,RNU6-25P,RNU6ATAC24P,RN7SL73P,GYG1,HLTF,HLTF-AS1,CP,TM4SF18,TM4SF1,TM4SF4,COMMD2,PFN2,LINC01214,TSC22D2,EIF2A,SELENOT,ERICH6,ERICH6-AS1,SIAH2,MINDY4B,CLRN1,GPR87,P2RY12,IGSF10,AADACL2,AADAC,SUCNR1,ARHGEF26-AS1,DHX36,DDX50P2,MME-AS1,C3orf33,GMPS,VN2R1P,KCNAB1-AS2,SSR3,TIPARP,LINC00880,SHOX2,GFM1,LXN,MFSD1,SCHIP1,IL12A,LINC01100,TRIM59,ARL14,LINC02067,OTOL1,LINC01323,LINC01327,SERPINI2,PDCD10,LINC02082,MYNN,LRRC34,LRRIQ4,SAMD7,SEC62,SEC62-AS1,GPR160,CLDN11,RPL22L1,EIF5A2,SLC2A2,TMEM212,TMEM212-AS1,TNFSF10,LINC02068,NCEH1,NLGN1-AS1,UBE2V1P2,LINC01208,TBL1XR1-AS1,LINC00501,LINC01014,KCNMB3,MFN1,MRPL47,NDUFB5,PEX5L-AS1,PEX5L-AS2,LINC02053,CCDC39-AS1,LINC01206,LINC01995,LINC02031,LAMP3,B3GNT5,LINC00888,KLHL6-AS1,KLHL24,PARL,CYP2AB1P,ABCC5,ABCC5-AS1,HTR3C,EIF2B5,ABCF3,VWA5B2,EEF1AKMT4,PSMD2,EIF4G1,FAM131A,CLCN2,CHRD,EPHB3,LINC02069,C3orf70,EHHADH-AS1,RPL4P4,TMEM41A,LIPH,TRA2B,NMRAL2P,ETV5,LINC02020,LINC02052,TBCCD1,DNAJB11,AHSG,HRG,KNG1,PSMD10P2,RFC4,ADIPOQ,MASP1,LINC02041,BCL6,LINC01991,LPP-AS2,LPP-AS1,P3H2-AS1,CLDN16,GMNC,UTS2B,HRASLS,OPA1-AS1,LINC02028,LINC02048,LINC00887,CPN2,LRRC15,GP5,ATP13A3,TMEM44,XXYLT1-AS2,ACAP2-IT1,PPP1R2,HPS3,CPHL1P,WWTR1,SERP1,MED12L,P2RY14,LINC02066,AADACL2-AS1,AADACP1,MBNL1,LINC02006,C3orf79,GPR149,MME,PLCH1,PLCH1-AS1,SLC33A1,LINC00886,LEKR1,CCNL1,PQLC2L,MLF1,RARRES1,IQCJ,IL12A-AS1,IFT80,KPNA4,PPM1L,B3GALNT1,NMD3,SPTSSB,LINC01192,LINC01324,SI,LINC02023,LINC01322,BCHE,ZBBX,WDR49,LRRC77P,GOLIM4,MECOM,PHC3,PRKCI,SKIL,SLC7A14,TNIK,PLD1,FNDC3B,ECT2,NAALADL2-AS2,LINC01209,LINC00578,LINC02015,KCNMB2,KCNMB2-AS1,ZMAT3,PIK3CA,GNB4,ACTL6A,USP13,PEX5L,TTC14,CCDC39,FXR1,ATP11B,DCUN1D1,MCCC1,MCF2L2,YEATS2,DVL3,EEF1AKMT4-ECE2,ECE2,LINC02054,VPS8,EHHADH,MAP3K13,IGF2BP2,IGF2BP2-AS1,DGKG,ST6GAL1,RPL39L,TPRG1,P3H2,CLDN1,TMEM207,IL1RAP,OSTN,OSTN-AS1,CCDC50,FGF12,FGF12-AS1,MB21D2,ATP13A5,ATP13A4,OPA1,LINC02036,LINC02037,LINC00884,LSG1,LINC01968,XXYLT1,ACAP2,ANKUB1,RNF13,ARHGEF26,KCNAB1,VEPH1,RSRC1,SMC4,EGFEM1P,LRRC31,SPATA16,NLGN1,NAALADL2,NAALADL2-AS3,TBL1XR1,SOX2-OT,LINC01994,KLHL6,SENP2,FETUB,LPP,TP63,LINC02026,CLRN1-AS1,IQCJ-SCHIP1,SERPINI1,LINC01840
 

Controls

No Control Data Available
No Animal Model Data Available
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