HELP     Sign In

3q26.1-q29CNV Type: Duplication


Largest CNV size: 31100000 bp

Statistics Box:
Number of Reports: 2



Summary Information

A maternally-inherited 3q26.1-q29 duplication was identified in a 1-month-old Lithuanian male presenting with hypotonia, short stature, and other phenotypes (Egle et al., 2016).

Additional Locus Information

Genome browsers

USCS Symbol             NCBI Symbol

Decipher

            Decipher Symbol

References

Major Reports

Title
Author, Year
Report Class
CNV Type
Identification of genetic causes of congenital neurodevelopmental disorders using genome wide molecular technologies.
Duplication

Minor Reports

Title
Author, Year
Report Class
CNV Type
The combination of whole-exome sequencing and copy number variation sequencing enables the diagnosis of rare neurological disorders.
Duplication

Cases

Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
 egle_16_DD/ID_discovery_cases
 Patients assessed in the course of the Lithuanian-Swiss cooperation programme "Research and Development", the joint research project "Unique Genome Variants in Congenital Neurodevelopment Disorders: Origin, Genomic Mechanisms, Functional and Clinical Consequences" (UNIGENE)
 66
 All cases present with either syndromic or non-syndromic developmental delay/intellectual disability (DD/ID), ranging from mild to profound
 N/A
 N/A
 31100000
 0
 1
 1
 jiao_19_EP/DD/ID_discovery_cases
 Consecutive pediatric patients with neurological disorders who visited Wuhan Children's Hospital between Jan 2017 and Dec 2018
 220
 Epilepsy/seizures were the most identified phenotype in this cohort (139/220, 63.2%), with developmental delay observed in 100 patients (45.45%), intellectual disability in 54 patients (24.5%), and autism/autistic behavior in 10 patients (4.5%).
 Range, 1 mo.- 14 yrs.
 60.45% Male
 36240000
 0
 1
 1

Controls

Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
 egle_16_DD/ID_discovery_controls
 CNVs from the Database of Genomic Variants (DGV)
 N/A
 Control
 N/A
 N/A
 0
 0
 0
 0

Cases

Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
 egle_16_DD/ID_discovery_cases
  Lithuania
 aCGH
  Agilent 60K, Agilent 105K, or Agilent 1M
 ADM-2
 Feature Extraction 10.7.3.1, CytoGenomics 3.0.0.27 (Agilent)
 FISH or RT-PCR
 jiao_19_EP/DD/ID_discovery_cases
  China
 WGS
  Low-coverage whole genome sequencing
 
 Illumina BclToFastq
 None

Controls

Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
  egle_16_DD/ID_discovery_controls
  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
  egle_16_DD/ID_discovery_cases-case13_1
 1 mo.
 M
 Developmental delay
 Muscular hypotonia, short stature, minor facial anomalies, spina bifida, long thumbs, micropenis
 Developmental delay
 166941938
 198076949
  31135012
 GRCh38
 Duplication
 Yes
  jiao_19_EP/DD/ID_discovery_cases-caseDD18009846
 2 yrs. 3 mos.
 Female
 DD and epilepsy/seizures
 Developmental milestones: global developmental delay. Epilepsy/seizures: seizures (febrile seizures).
 
 161932067
 198165381
  36233315
 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
 egle_16_DD/ID_discovery_cases-case13_1
 FISH or RT-PCR
 
 Maternal
 
 
 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,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,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,EGFEM1P,LRRC31,SPATA16,NLGN1,NAALADL2,NAALADL2-AS3,TBL1XR1,SOX2-OT,LINC01994,KLHL6,SENP2,FETUB,LPP,TP63,LINC02026,DLG1,SERPINI1,LINC01840
 
 jiao_19_EP/DD/ID_discovery_cases-caseDD18009846
 
 
 De novo
 Simplex
 Segregated
 TOMM22P6,RPS6P4,RNU7-82P,MIR1263,SLITRK3,MTND4P17,MTND4LP10,MTND3P7,MTCO3P38,MCUR1P2,LINC01326,RN7SKP298,PSAT1P4,CBX1P5,PPIAP74,HMGN1P8,MEMO1P3,HMGN2P26,RNU2-20P,MIR551B,RPSAP33,RPL21P43,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,SNORA63E,YEATS2-AS1,MAP6D1,RPSAP31,MIR4448,EEF1A1P8,HTR3D,HTR3C2P,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,SNORA63B,MIR1248,SNORA81,SNORA63,SNORA4,LINC02043,ADIPOQ-AS1,RPS20P14,RTP1,RTP4,SST,RTP2,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,MIR4797,DLG1-AS1,LINC02012,MIR922,RNU6-858P,RNU6-621P,LMLN-AS1,RNU6-821P,FRG2FP,TUBB8P8,LINC01323,LINC01327,SERPINI2,PDCD10,LINC02082,LINC01997,MYNN,LRRC34,LRRIQ4,SAMD7,SEC62,SEC62-AS1,GPR160,CLDN11,RPL22L1,EIF5A2,SLC2A2,TMEM212,TMEM212-AS1,TNFSF10,LINC02068,NCEH1,NLGN1-AS1,UBE2V1P2,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,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,LINC01192,LINC01324,SI,LINC02023,BCHE,ZBBX,WDR49,LRRC77P,GOLIM4,MECOM,PHC3,PRKCI,SKIL,SLC7A14-AS1,SLC7A14,TNIK,PLD1,FNDC3B,ECT2,NAALADL2-AS2,LINC01208,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,LINC01322,EGFEM1P,LRRC31,SPATA16,NLGN1,NAALADL2,NAALADL2-AS3,TBL1XR1,SOX2-OT,LINC01994,KLHL6,SENP2,FETUB,LPP,TP63,LINC02026,DLG1,FAM157A,SERPINI1,LINC01840
 

Controls

No Control Data Available
No Animal Model Data Available
HELP
Copyright © 2017 MindSpec, Inc.