A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4342697



Internal ID19841046
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:73035788..159949530hg38UCSC Ensembl
chr4:73901505..160870682hg19UCSC Ensembl
Cytoband4q13.3
Allele length
AssemblyAllele length
hg3886913743
hg1986969178
Variant TypeOTHER sequence alteration
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15790230
Samples
Known GenesABCE1, ABCG2, ADAD1, ADH1A, ADH1B, ADH1C, ADH4, ADH5, ADH6, ADH7, AFF1, AFM, AFP, AGPAT9, AIMP1, ALB, ALPK1, ANAPC10, ANK2, ANKRD17, ANKRD50, ANTXR2, ANXA2P1, ANXA3, ANXA5, AP1AR, AREG, ARFIP1, ARHGAP10, ARHGAP24, ARHGEF38, ARHGEF38-IT1, ARSJ, ART3, ASIC5, ATOH1, BANK1, BBS12, BBS7, BDH2, BMP2K, BMP3, BMPR1B, BTC, C4orf17, C4orf21, C4orf22, C4orf26, C4orf29, C4orf3, C4orf32, C4orf33, C4orf36, C4orf45, C4orf46, C4orf51, CAMK2D, CASP6, CCDC109B, CCDC158, CCNA2, CCNG2, CCNI, CCRN4L, CCSER1, CDKL2, CDS1, CENPE, CEP170P1, CETN4P, CFI, CISD2, CLGN, CNOT6L, COL25A1, COPS4, COQ2, COX18, CTSO, CXCL1, CXCL10, CXCL11, CXCL13, CXCL2, CXCL3, CXCL5, CXCL6, CXCL9, CXXC4, CYP2U1, DAPP1, DCHS2, DCLK2, DDIT4L, DEAR, DKFZP434I0714, DKK2, DMP1, DNAJB14, DSPP, EDNRA, EGF, EIF4E, ELF2, ELMOD2, ELOVL6, EMCN, EMCN-IT3, ENOPH1, ENPEP, EPGN, EREG, ETFDH, ETNPPL, EXOSC9, FABP2, FAM13A, FAM13A-AS1, FAM160A1, FAM175A, FAM198B, FAM47E, FAM47E-STBD1, FAT4, FBXW7, FGA, FGB, FGF2, FGF5, FGG, FHDC1, FLJ20021, FNIP2, FRAS1, FREM3, G3BP2, GAB1, GAR1, GIMD1, GK2, GLRB, GPRIN3, GRIA2, GRID2, GSTCD, GUCY1A3, GUCY1B3, GUSBP5, GYPA, GYPB, GYPE, H2AFZ, HADH, HELQ, HERC3, HERC5, HERC6, HHIP, HHIP-AS1, HNRNPD, HNRNPDL, HPGDS, HPSE, HSD17B11, HSD17B13, HSPA4L, IBSP, IL15, IL2, IL21, IL21-AS1, IL8, INPP4B, INTS12, INTU, JADE1, KIAA0922, KIAA1109, KLHL8, LAMTOR3, LARP1B, LARP7, LEF1, LEF1-AS1, LIN54, LINC00499, LINC00575, LINC00613, LINC00616, LINC00989, LINC01061, LINC01088, LINC01091, LINC01094, LINC01095, LOC100129858, LOC100506746, LOC100507053, LOC152586, LOC256880, LOC340017, LOC441025, LOC644248, LOC645513, LOC728040, LOC729218, LRAT, LRBA, LRIT3, LSM6, MAB21L2, MAD2L1, MAML3, MANBA, MAP9, MAPK10, MEPE, METAP1, METTL14, MFSD8, MGARP, MGST2, MIR1243, MIR1973, MIR2054, MIR302A, MIR302B, MIR302C, MIR302D, MIR3140, MIR367, MIR3684, MIR3688-1, MIR3688-2, MIR4450, MIR4451, MIR4453, MIR4799, MIR5705, MIR575, MIR577, MIR7849, MIR8066, MIR8082, MMAA, MMRN1, MND1, MRPL1, MRPS18C, MTHFD2L, MTTP, MYOZ2, NAA11, NAA15, NAAA, NAP1L5, NDNF, NDST3, NDST4, NDUFC1, NEUROG2, NFKB1, NKX6-1, NPNT, NPY2R, NR3C2, NUDT6, NUDT9, NUP54, OSTC, OTUD4, PABPC4L, PAPSS1, PAQR3, PARM1, PCAT4, PCDH10, PCDH18, PCNAP1, PDE5A, PDGFC, PDHA2, PDLIM5, PET112, PF4, PF4V1, PGRMC2, PIGY, PITX2, PKD2, PLA2G12A, PLAC8, PLK4, PLRG1, POU4F2, PP12613, PPA2, PPBP, PPBPP2, PPEF2, PPID, PPM1K, PPP3CA, PRDM5, PRDM8, PRKG2, PRMT10, PRSS12, PRSS48, PTPN13, PYURF, QRFPR, RAB33B, RAP1GDS1, RAPGEF2, RASGEF1B, RASSF6, RBM46, RCHY1, RNF150, RNF175, RPL34, RPL34-AS1, RPS3A, RRH, RXFP1, SCARB2, SCD5, SCLT1, SCOC, SDAD1, SEC24B, SEC24B-AS1, SEC24D, SEC31A, SEPT11, SETD7, SFRP2, SGMS2, SH3D19, SHROOM3, SLC10A6, SLC10A7, SLC25A31, SLC39A8, SLC7A11, SLC7A11-AS1, SLC9B1, SLC9B2, SMAD1, SMAD1-AS2, SMARCA5, SMARCA5-AS1, SMARCAD1, SNCA, SNHG8, SNORA24, SNORD73A, SOWAHB, SPARCL1, SPATA5, SPP1, SPRY1, STBD1, STPG2, STPG2-AS1, SYNPO2, TACR3, TBC1D9, TBCK, TDO2, TET2, THAP6, THAP9, THAP9-AS1, TIFA, TIGD2, TIGD4, TLR2, TMEM144, TMEM150C, TMEM154, TMEM155, TMEM184C, TNIP3, TNRC18P1, TRAM1L1, TRIM2, TRMT10A, TRPC3, TSPAN5, TTC29, UBE2D3, UCP1, UGT8, UNC5C, USO1, USP38, USP53, WDFY3, WDFY3-AS2, ZNF330, ZNF827
MethodSequencing
AnalysisSV calls were generated using multi-algorithm consensus pipeline involving raw evidence assessment, filtering, clustering, genotyping, alternative allele structure resolution, and gene annotation. These methods are described in detail in the gnomAD-SV preprint [Collins*, Brand*, et al., bioRxiv (2019)|https://www.biorxiv.org/content/10.1101/578674v1], and are largely based on methods developed in [Werling et al., Nat. Genet. (2018)|https://www.ncbi.nlm.nih.gov/pubmed/29700473].
Platform
Commentscomplex variant
ReferencegnomAD_Structural_Variants
Pubmed ID12345678
Accession Number(s)nsv4342697
Frequency
Sample Size10847
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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