A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5547030



Internal ID320917
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:68996170..113894177hg38UCSC Ensembl
chr4:69861888..114815333hg19UCSC Ensembl
Cytoband4q13.2
Allele length
AssemblyAllele length
hg3870
hg1970
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16950558
Samples
Known GenesABCG2, ADAMTS3, ADH1A, ADH1B, ADH1C, ADH4, ADH5, ADH6, ADH7, AFF1, AFM, AFP, AGPAT9, AIMP1, ALB, ALPK1, AMBN, AMTN, ANK2, ANKRD17, ANTXR2, ANXA3, AP1AR, AREG, ARHGAP24, ARHGEF38, ARHGEF38-IT1, ART3, ATOH1, BANK1, BDH2, BMP2K, BMP3, BMPR1B, BTC, C4orf17, C4orf21, C4orf22, C4orf26, C4orf32, C4orf36, C4orf40, CABS1, CAMK2D, CASP6, CCDC109B, CCDC158, CCNG2, CCNI, CCSER1, CDKL2, CDS1, CENPE, CFI, CISD2, CNOT6L, COL25A1, COPS4, COQ2, COX18, CSN1S1, CSN1S2AP, CSN1S2BP, CSN2, CSN3, CXCL1, CXCL10, CXCL11, CXCL13, CXCL2, CXCL3, CXCL5, CXCL6, CXCL9, CXXC4, CYP2U1, DAPP1, DCK, DDIT4L, DKK2, DMP1, DNAJB14, DSPP, EGF, EIF4E, ELOVL6, EMCN, EMCN-IT3, ENAM, ENOPH1, ENPEP, EPGN, EREG, ETNPPL, FAM13A, FAM13A-AS1, FAM175A, FAM47E, FAM47E-STBD1, FDCSP, FGF5, FLJ20021, FRAS1, G3BP2, GAR1, GC, GIMD1, GK2, GPRIN3, GRID2, GRSF1, GSTCD, H2AFZ, HADH, HELQ, HERC3, HERC5, HERC6, HNRNPD, HNRNPDL, HPGDS, HPSE, HSD17B11, HSD17B13, HTN1, HTN3, IBSP, IGJ, IL8, INTS12, KLHL8, LAMTOR3, LARP7, LEF1, LEF1-AS1, LIN54, LINC00575, LINC00989, LINC01088, LINC01094, LOC100506746, LOC100507053, LOC256880, LOC441025, LOC644248, LOC728040, LRIT3, MANBA, MAPK10, MEPE, METAP1, MIR1243, MIR302A, MIR302B, MIR302C, MIR302D, MIR367, MIR3684, MIR4450, MIR4451, MIR5705, MIR575, MIR8066, MIR8082, MMRN1, MOB1B, MRPL1, MRPS18C, MTHFD2L, MTTP, MUC7, NAA11, NAAA, NAP1L5, NEUROG2, NFKB1, NKX6-1, NPFFR2, NPNT, NUDT9, NUP54, ODAM, OSTC, PAPSS1, PAQR3, PARM1, PCAT4, PCNAP1, PDHA2, PDLIM5, PF4, PF4V1, PIGY, PITX2, PKD2, PLA2G12A, PLAC8, PPA2, PPBP, PPBPP2, PPEF2, PPM1K, PPP3CA, PRDM8, PRKG2, PROL1, PTPN13, PYURF, RAP1GDS1, RASGEF1B, RASSF6, RCHY1, RPL34, RPL34-AS1, RRH, RUFY3, SCARB2, SCD5, SDAD1, SEC24B, SEC24B-AS1, SEC31A, SEPT11, SGMS2, SHROOM3, SLC10A6, SLC39A8, SLC4A4, SLC9B1, SLC9B2, SMARCAD1, SMR3A, SMR3B, SNCA, SOWAHB, SPARCL1, SPP1, STATH, STBD1, STPG2, STPG2-AS1, SULT1B1, SULT1E1, TACR3, TBCK, TET2, THAP6, THAP9, THAP9-AS1, TIFA, TIGD2, TMEM150C, TRMT10A, TSPAN5, UBE2D3, UGT2A1, UGT2A2, UGT2B10, UGT2B11, UGT2B28, UGT2B4, UGT2B7, UNC5C, USO1, UTP3, WDFY3, WDFY3-AS2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5547030
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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