A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16951398



Internal ID34957
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:74717205..184730527hg38UCSC Ensembl
chr4:75642416..185651681hg19UCSC Ensembl
Cytoband4q13.3
Allele length
AssemblyAllele length
hg38110013323
hg19110009266
Variant TypeOTHER sequence alteration
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5562145
Supporting Variants
Samples
Known GenesAADAT, ABCE1, ABCG2, ADAD1, ADAM29, ADH1A, ADH1B, ADH1C, ADH4, ADH5, ADH6, ADH7, AFF1, AGA, AGPAT9, AIMP1, ALPK1, ANAPC10, ANK2, ANKRD50, ANP32C, ANTXR2, ANXA10, ANXA2P1, ANXA3, ANXA5, AP1AR, ARFIP1, ARHGAP10, ARHGAP24, ARHGEF38, ARHGEF38-IT1, ARSJ, ART3, ASB5, ASIC5, ATOH1, BANK1, BBS12, BBS7, BDH2, BMP2K, BMP3, BMPR1B, BTC, C4orf17, C4orf21, C4orf22, C4orf26, C4orf27, C4orf29, C4orf3, C4orf32, C4orf33, C4orf36, C4orf45, C4orf46, C4orf51, CAMK2D, CASP3, CASP6, CBR4, CCDC109B, CCDC158, CCNA2, CCNG2, CCNI, CCRN4L, CCSER1, CDKL2, CDKN2AIP, CDS1, CENPE, CENPU, CEP170P1, CEP44, CETN4P, CFI, CISD2, CLCN3, CLDN22, CLDN24, CLGN, CNOT6L, COL25A1, COPS4, COQ2, CPE, CTSO, CXCL10, CXCL11, CXCL13, CXCL9, CXXC4, CYP2U1, DAPP1, DCHS2, DCLK2, DCTD, DDIT4L, DDX60, DDX60L, DEAR, DKFZP434I0714, DKK2, DMP1, DNAJB14, DSPP, EDNRA, EGF, EIF4E, ELF2, ELMOD2, ELOVL6, EMCN, EMCN-IT3, ENOPH1, ENPEP, ENPP6, ETFDH, ETNPPL, EXOSC9, FABP2, FAM13A, FAM13A-AS1, FAM160A1, FAM175A, FAM198B, FAM218A, FAM47E, FAM47E-STBD1, FAM92A1P2, FAT4, FBXO8, FBXW7, FGA, FGB, FGF2, FGF5, FGG, FHDC1, FLJ20021, FNIP2, FRAS1, FREM3, FSTL5, G3BP2, GAB1, GALNT7, GALNTL6, GAR1, GIMD1, GK2, GK3P, GLRA3, GLRB, GPM6A, GPRIN3, GRIA2, GRID2, GSTCD, GUCY1A3, GUCY1B3, GUSBP5, GYPA, GYPB, GYPE, H2AFZ, HADH, HAND2, HAND2-AS1, HELQ, HERC3, HERC5, HERC6, HHIP, HHIP-AS1, HMGB2, HNRNPD, HNRNPDL, HPGD, HPGDS, HPSE, HSD17B11, HSD17B13, HSPA4L, IBSP, IL15, IL2, IL21, IL21-AS1, ING2, INPP4B, INTS12, INTU, IRF2, JADE1, KIAA0922, KIAA1109, KLHL2, KLHL8, LAMTOR3, LARP1B, LARP7, LEF1, LEF1-AS1, LIN54, LINC00290, LINC00499, LINC00575, LINC00613, LINC00616, LINC00989, LINC01061, LINC01088, LINC01091, LINC01094, LINC01095, LINC01098, LINC01099, LOC100129858, LOC100505989, LOC100506013, LOC100506085, LOC100506122, LOC100506746, LOC100507053, LOC152586, LOC256880, LOC340017, LOC389247, LOC441025, LOC644248, LOC645513, LOC728175, LOC729218, LRAT, LRBA, LRIT3, LSM6, MAB21L2, MAD2L1, MAML3, MANBA, MAP9, MAPK10, MARCH1, MEPE, METAP1, METTL14, MFAP3L, MFSD8, MGARP, MGC45800, MGST2, MIR1243, MIR1305, MIR1973, MIR2054, MIR302A, MIR302B, MIR302C, MIR302D, MIR3140, MIR367, MIR3684, MIR3688-1, MIR3688-2, MIR4276, MIR4450, MIR4451, MIR4453, MIR4799, MIR5684, MIR5705, MIR575, MIR577, MIR578, MIR6082, MIR7849, MIR8066, MIR8082, MMAA, MMRN1, MND1, MRPL1, MRPS18C, MSMO1, MTTP, MYOZ2, NAA11, NAA15, NAAA, NAF1, NAP1L5, NDNF, NDST3, NDST4, NDUFC1, NEIL3, NEK1, NEUROG2, NFKB1, NKX6-1, NPNT, NPY1R, NPY2R, NPY5R, NR3C2, NUDT6, NUDT9, NUP54, OSTC, OTUD4, PABPC4L, PALLD, PAPSS1, PAQR3, PARM1, PCAT4, PCDH10, PCDH18, PCNAP1, PDE5A, PDGFC, PDHA2, PDLIM5, PET112, PGRMC2, PIGY, PITX2, PKD2, PLA2G12A, PLAC8, PLK4, PLRG1, POU4F2, PP12613, PPA2, PPEF2, PPID, PPM1K, PPP3CA, PRDM5, PRDM8, PRIMPOL, PRKG2, PRMT10, PRSS12, PRSS48, PTPN13, PYURF, QRFPR, RAB33B, RAP1GDS1, RAPGEF2, RASGEF1B, RBM46, RCHY1, RNF150, RNF175, RPL34, RPL34-AS1, RPS3A, RRH, RWDD4, RXFP1, SAP30, SCARB2, SCD5, SCLT1, SCOC, SCRG1, SDAD1, SEC24B, SEC24B-AS1, SEC24D, SEC31A, SEPT11, SETD7, SFRP2, SGMS2, SH3D19, SH3RF1, SHROOM3, SLC10A6, SLC10A7, SLC25A31, SLC39A8, SLC7A11, SLC7A11-AS1, SLC9B1, SLC9B2, SMAD1, SMAD1-AS2, SMARCA5, SMARCA5-AS1, SMARCAD1, SNCA, SNHG8, SNORA24, SNORD73A, SOWAHB, SPARCL1, SPATA4, SPATA5, SPCS3, SPOCK3, SPP1, SPRY1, STBD1, STOX2, STPG2, STPG2-AS1, SYNPO2, TACR3, TBC1D9, TBCK, TDO2, TENM3, TET2, THAP6, THAP9, THAP9-AS1, TIFA, TIGD2, TIGD4, TKTL2, TLL1, TLR2, TMA16, TMEM144, TMEM150C, TMEM154, TMEM155, TMEM184C, TMEM192, TNIP3, TNRC18P1, TRAM1L1, TRAPPC11, TRIM2, TRIM60, TRIM61, TRMT10A, TRPC3, TSPAN5, TTC29, UBE2D3, UCP1, UGT8, UNC5C, USO1, USP38, USP53, VEGFC, WDFY3, WDFY3-AS2, WDR17, WWC2, WWC2-AS2, ZNF330, ZNF827
MethodSequencing
Analysis
Platform
Commentscomplex variant
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16951398
Frequency
Sample Size3202
Observed Gain0
Observed Loss0
Observed Complex0
Frequency0.0128


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