Variant DetailsVariant: nsv5556846 | Internal ID | 329971 | | Landmark | | | Location Information | | | Cytoband | 7p11.1 | | Allele length | | Assembly | Allele length | | hg38 | 154807730 | | hg19 | 154560790 |
| | Variant Type | OTHER sequence alteration | | Copy Number | | | Allele State | | | Allele Origin | | | Probe Count | | | Validation Flag | | | Merged Status | M | | Merged Variants | | | Supporting Variants | nssv16991476 | | Samples | | | Known Genes | AASS, ABCA13, ABCB1, ABCB4, ABCB5, ABCB8, ABCF2, ABHD11, ACHE, ACN9, ACTB, ACTL6B, ACTR3B, ACTR3C, ADAM22, ADCK2, ADCY1, ADCYAP1R1, AEBP1, AGAP3, AGBL3, AGFG2, AGK, AGMO, AGR2, AGR3, AHCYL2, AHR, AIMP2, AKAP9, AKR1B1, AKR1B10, AKR1B15, AKR1D1, ALKBH4, AMPH, AMZ1, ANKIB1, ANKMY2, ANKRD61, ANKRD7, ANLN, AOAH, AOAH-IT1, AOC1, AP1S1, AP4M1, AP5Z1, AQP1, ARF5, ARHGEF34P, ARHGEF35, ARHGEF5, ARL4A, ARMC10, ARPC1A, ARPC1B, ASB10, ASB15, ASB4, ASIC3, ASL, ASNS, ASZ1, ATG9B, ATP5J2, ATP5J2-PTCD1, ATP6V0A4, ATP6V0E2, ATP6V0E2-AS1, ATP6V1F, ATXN7L1, AUTS2, AVL9, AZGP1, AZGP1P1, BAIAP2L1, BAZ1B, BBS9, BCAP29, BCL7B, BET1, BHLHA15, BLACE, BLVRA, BMPER, BPGM, BRAF, BRAT1, BRI3, BUD31, BZW2, C1GALT1, C7orf10, C7orf13, C7orf25, C7orf26, C7orf31, C7orf33, C7orf34, C7orf43, C7orf49, C7orf55, C7orf55-LUC7L2, C7orf57, C7orf60, C7orf61, C7orf62, C7orf63, C7orf65, C7orf66, C7orf69, C7orf71, C7orf72, C7orf73, C7orf76, CACNA2D1, CADPS2, CALCR, CALD1, CALN1, CALU, CAMK2B, CAPZA2, CARD11, CASD1, CASP2, CAV1, CAV2, CBLL1, CBX3, CCDC126, CCDC129, CCDC132, CCDC136, CCDC146, CCDC71L, CCL24, CCL26, CCM2, CCT6A, CCT6P1, CCT6P3, CCZ1, CCZ1B, CD36, CDC14C, CDCA7L, CDHR3, CDK13, CDK14, CDK5, CDK6, CEP41, CFTR, CHCHD2, CHCHD3, CHN2, CHPF2, CHRM2, CLCN1, CLDN12, CLDN15, CLDN3, CLDN4, CLEC2L, CLEC5A, CLIP2, CLK2P, CNOT4, CNPY1, CNPY4, CNTNAP2, COA1, COBL, COG5, COL1A2, COL26A1, COL28A1, COPG2, COPS6, CPA1, CPA2, CPA4, CPA5, CPED1, CPSF4, CPVL, CRCP, CREB3L2, CREB5, CRHR2, CROT, CRYGN, CTAGE15, CTAGE4, CTAGE6, CTAGE8, CTTNBP2, CUL1, CUX1, CYCS, CYP3A4, CYP3A43, CYP3A5, CYP3A7, CYP3A7-CYP3AP1, CYP51A1, CYTH3, DAGLB, DBF4, DBNL, DDC, DDX56, DENND2A, DFNA5, DGKB, DGKI, DKFZp434L192, DKFZP586I1420, DLD, DLX5, DLX6, DLX6-AS1, DMTF1, DNAH11, DNAJB9, DNAJC2, DNAJC30, DOCK4, DOCK4-AS1, DPP6, DPY19L1, DPY19L1P1, DPY19L2P1, DPY19L2P2, DPY19L2P3, DPY19L2P4, DTX2, DTX2P1-UPK3BP1-PMS2P11, DUS4L, DYNC1I1, EEPD1, EFCAB10, EGFR, EGFR-AS1, EIF2AK1, EIF3IP1, EIF4H, ELMO1, ELMO1-AS1, ELN, EN2, EPDR1, EPHA1, EPHA1-AS1, EPHB4, EPHB6, EPO, ERV3-1, ETV1, EVX1, EXOC4, EZH2, FABP5P3, FAM115A, FAM115C, FAM126A, FAM131B, FAM133B, FAM133DP, FAM180A, FAM183B, FAM185A, FAM188B, FAM200A, FAM220A, FAM221A, FAM3C, FAM71F1, FAM71F2, FASTK, FBXL13, FBXL18, FBXO24, FDPSP2, FERD3L, FEZF1, FEZF1-AS1, FGL2, FIGNL1, FIS1, FKBP14, FKBP6, FKBP9, FKBP9L, FLJ40288, FLJ45974, FLNC, FOXK1, FOXP2, FSCN1, FSCN3, FZD1, FZD9, GAL3ST4, GALNT11, GALNTL5, GARS, GATAD1, GATS, GATSL1, GATSL2, GBAS, GBX1, GCC1, GCK, GGCT, GHRHR, GIGYF1, GIMAP1, GIMAP1-GIMAP5, GIMAP2, GIMAP4, GIMAP5, GIMAP6, GIMAP7, GIMAP8, GJC3, GLCCI1, GLI3, GNA12, GNAI1, GNAT3, GNB2, GNG11, GNGT1, GPC2, GPNMB, GPR141, GPR22, GPR37, GPR85, GRB10, GRID2IP, GRM3, GRM8, GSAP, GSTK1, GTF2I, GTF2IP1, GTF2IRD1, GTF2IRD1P1, GTF2IRD2, GTF2IRD2B, GTPBP10, GUSB, GUSBP10, H2AFV, HBP1, HDAC9, HECW1, HEPACAM2, HERPUD2, HGF, HIBADH, HILPDA, HIP1, HIPK2, HNRNPA2B1, HOTAIRM1, HOTTIP, HOXA1, HOXA10, HOXA10-HOXA9, HOXA11, HOXA11-AS, HOXA13, HOXA2, HOXA3, HOXA4, HOXA5, HOXA6, HOXA7, HOXA9, HOXA-AS3, HOXA-AS4, HPVC1, HSPB1, HTR5A, HTR5A-AS1, HUS1, HYAL4, HYALP1, ICA1, IFRD1, IGF2BP3, IGFBP1, IGFBP3, IKZF1, IL6, IMMP2L, IMPDH1, ING3, INHBA, INHBA-AS1, INMT, INMT-FAM188B, INSIG1, INTS4L2, IQCE, IQUB, IRF5, ISPD, ISPD-AS1, ITGB8, JAZF1, JAZF1-AS1, JHDM1D-AS1, KBTBD2, KCND2, KCNH2, KCP, KCTD7, KDELR2, KDM7A, KEL, KIAA0087, KIAA0895, KIAA1147, KIAA1324L, KIAA1549, KLF14, KLHDC10, KLHL7, KLHL7-AS1, KLRG2, KMT2C, KMT2E, KMT2E-AS1, KPNA7, KRBA1, KRIT1, LAMB1, LAMB4, LAMTOR4, LANCL2, LAT2, LEP, LFNG, LHFPL3, LHFPL3-AS1, LHFPL3-AS2, LIMK1, LINC00035, LINC00174, LINC00244, LINC00265, LINC00525, LINC00957, LINC00996, LINC00997, LINC00998, LINC01000, LINC01003, LINC01004, LINC01005, LINC01006, LINC01007, LINC-PINT, LMBR1, LMOD2, LMTK2, LOC100093631, LOC100101148, LOC100128885, LOC100129148, LOC100129427, LOC100130673, LOC100130705, LOC100130849, LOC100130880, LOC100131257, LOC100132832, LOC100133091, LOC100240728, LOC100287704, LOC100287834, LOC100289187, LOC100289561, LOC100506136, LOC100506178, LOC100506497, LOC100506516, LOC100506725, LOC100506895, LOC100507468, LOC100630923, LOC101409256, LOC101927354, LOC101928401, LOC101928618, LOC101929086, LOC101929736, LOC154761, LOC154872, LOC155060, LOC285878, LOC285889, LOC349160, LOC401320, LOC401324, LOC407835, LOC441204, LOC441242, LOC493754, LOC541473, LOC641746, LOC646329, LOC646762, LOC650226, LOC728743, LOC730441, LOC93432, LRCH4, LRGUK, LRRC17, LRRC4, LRRC61, LRRC72, LRRD1, LRRN3, LRWD1, LSM5, LSMEM1, LUC7L2, LUZP6, MACC1, MACC1-AS1, MAGI2, MAGI2-AS2, MAGI2-AS3, MALSU1, MBLAC1, MCM7, MDFIC, MDH2, MEOX2, MEPCE, MEST, MESTIT1, MET, METTL2B, MGAM, MGC16142, MGC27345, MGC72080, MIOS, MIR106B, MIR1200, MIR129-1, MIR148A, MIR182, MIR183, MIR196B, MIR25, MIR29A, MIR29B1, MIR3146, MIR3147, MIR335, MIR3609, MIR3666, MIR3907, MIR3914-1, MIR3914-2, MIR3943, MIR4283-1, MIR4283-2, MIR4284, MIR4285, MIR4467, MIR4468, MIR4648, MIR4649, MIR4650-1, MIR4650-2, MIR4651, MIR4652, MIR4653, MIR4656, MIR4657, MIR4658, MIR489, MIR490, MIR5090, MIR548AQ, MIR548AR, MIR548AU, MIR548F3, MIR548F4, MIR548I4, MIR548M, MIR548T, MIR550A1, MIR550A2, MIR550A3, MIR550B1, MIR550B2, MIR589, MIR590, MIR591, MIR592, MIR593, MIR6132, MIR6133, MIR6509, MIR653, MIR671, MIR6837, MIR6838, MIR6839, MIR6840, MIR6874, MIR6875, MIR6892, MIR7976, MIR93, MIR96, MKLN1, MKRN1, MLXIPL, MMD2, MNX1, MNX1-AS1, MOGAT3, MOSPD3, MOXD2P, MPLKIP, MPP6, MRPL32, MRPS17, MRPS24, MRPS33, MTERF, MTPN, MTRNR2L6, MTURN, MUC12, MUC17, MYH16, MYL10, MYL7, MYO1G, NAA38, NACAD, NAMPT, NAPEPLD, NAT16, NCF1, NCF1B, NCF1C, NDUFA4, NDUFA5, NDUFB2, NDUFB2-AS1, NEUROD6, NFE2L3, NME8, NOBOX, NOD1, NOM1, NOS3, NPC1L1, NPSR1, NPSR1-AS1, NPTX2, NPVF, NPY, NRCAM, NRF1, NSUN5, NSUN5P1, NSUN5P2, NT5C3A, NUB1, NUDCD3, NUP205, NUPL2, NUPR1L, NXPH1, NYAP1, OCM, OCM2, OGDH, OPN1SW, OR2A1, OR2A12, OR2A14, OR2A2, OR2A20P, OR2A25, OR2A42, OR2A5, OR2A7, OR2A9P, OR2AE1, OR2F1, OR2F2, OR6B1, OR6V1, OR6W1P, OR9A2, OR9A4, ORAI2, ORC5, OSBPL3, PAPOLB, PARP12, PAX4, PAXIP1, PAXIP1-AS1, PAXIP1-AS2, PCLO, PCOLCE, PCOLCE-AS1, PDAP1, PDE1C, PDIA4, PDK4, PEG10, PER4, PEX1, PGAM2, PHF14, PHKG1, PHTF2, PIK3CG, PILRA, PILRB, PIP, PKD1L1, PLEKHA8, PLOD3, PLXNA4, PMPCB, PMS2, PMS2CL, PMS2L2, PMS2P1, PMS2P3, PMS2P4, PMS2P5, PNPLA8, PODXL, POLD2, POLM, POLR2J, POLR2J2, POLR2J3, POLR2J4, POM121, POM121C, POM121L12, POMZP3, PON1, PON2, PON3, POP7, POR, POT1, POU6F2, POU6F2-AS1, PPIA, PPP1R17, PPP1R35, PPP1R3A, PPP1R9A, PRKAG2, PRKAG2-AS1, PRKAR2B, PRKRIP1, PRPS1L1, PRR15, PRRT4, PRSS1, PRSS2, PRSS37, PRSS3P2, PRSS58, PSMA2, PSMC2, PSPH, PTCD1, PTN, PTPN12, PTPRZ1, PURB, PUS7, PVRIG, PVRIG2P, RAB19, RABGEF1, RABL5, RAC1, RADIL, RALA, RAMP3, RAPGEF5, RARRES2, RASA4, RASA4B, RASA4CP, RBAK, RBAKDN, RBAK-RBAKDN, RBM28, RBM33, RBM48, RELN, REPIN1, RFC2, RHBDD2, RHEB, RINT1, RNF133, RNF148, RNF216, RNF216-IT1, RNF216P1, RNF32, RNU6-16P, RNU6-33P, RNU6-34P, RNU6-57P, RP9, RP9P, RPA3, RPA3-AS1, RPL13AP17, RPL19P12, RPL23P8, RPS2P32, RSBN1L, RSBN1L-AS1, RSPH10B, RSPH10B2, RUNDC3B, SAMD9, SAMD9L, SAP25, SBDS, SBDSP1, SCIN, SCRN1, SDK1, SEC61G, SEMA3A, SEMA3C, SEMA3D, SEMA3E, SEPT14, SEPT7, SEPT7P2, SERPINE1, SFRP4, SGCE, SH2B2, SHFM1, SHH, SKAP2, SLC12A9, SLC13A1, SLC13A4, SLC25A13, SLC25A40, SLC26A3, SLC26A4, SLC26A4-AS1, SLC26A5, SLC29A4, SLC35B4, SLC37A3, SLC4A2, SMARCD3, SMKR1, SMO, SMURF1, SND1, SND1-IT1, SNHG15, SNORA14A, SNORA15, SNORA22, SNORA5A, SNORA5B, SNORA5C, SNORA9, SNORD93, SNX10, SNX13, SOSTDC1, SP4, SP8, SPAM1, SPDYE1, SPDYE2, SPDYE2B, SPDYE3, SPDYE5, SPDYE6, SPDYE7P, SPDYE8P, SRCRB4D, SRI, SRPK2, SRRM3, SRRT, SSBP1, SSMEM1, SSPO, ST7, ST7-AS1, ST7-AS2, ST7-OT3, ST7-OT4, STAG3, STAG3L1, STAG3L2, STAG3L3, STAG3L4, STAG3L5P, STAG3L5P-PVRIG2P-PILRB, STARD3NL, STEAP1, STEAP1B, STEAP2, STEAP4, STK17A, STK31, STRA8, STRIP2, STX1A, STYXL1, SUMF2, SUN3, SVOPL, SYPL1, TAC1, TAF6, TARP, TAS2R16, TAS2R3, TAS2R38, TAS2R39, TAS2R4, TAS2R40, TAS2R41, TAS2R5, TAS2R60, TAX1BP1, TBL2, TBRG4, TBX20, TBXAS1, TECPR1, TES, TFEC, TFPI2, TFR2, THAP5, THSD7A, TMED4, TMEM106B, TMEM120A, TMEM130, TMEM139, TMEM140, TMEM168, TMEM176A, TMEM176B, TMEM178B, TMEM196, TMEM209, TMEM213, TMEM229A, TMEM243, TMEM248, TMEM60, TMUB1, TNPO3, TNRC18, TNS3, TOMM7, TP53TG1, TPI1P2, TPK1, TPST1, TRA2A, TRG-AS1, TRIL, TRIM24, TRIM4, TRIM50, TRIM56, TRIM73, TRIM74, TRIP6, TRPV5, TRPV6, TRRAP, TSC22D4, TSGA13, TSPAN12, TSPAN13, TSPAN33, TTC26, TTYH3, TWIST1, TWISTNB, TYW1, TYW1B, UBE2D4, UBE2H, UBE3C, UBN2, UFSP1, UPK3B, UPK3BL, UPP1, URGCP, URGCP-MRPS24, USP42, VGF, VKORC1L1, VOPP1, VPS37D, VPS41, VSTM2A, VWC2, VWDE, WASL, WBSCR16, WBSCR17, WBSCR22, WBSCR27, WBSCR28, WDR86, WDR86-AS1, WDR91, WEE2, WEE2-AS1, WIPF3, WIPI2, WNT16, WNT2, XRCC2, YAE1D1, YKT6, YWHAEP1, YWHAG, ZAN, ZBED6CL, ZC3HAV1, ZC3HAV1L, ZC3HC1, ZCWPW1, ZDHHC4, ZKSCAN1, ZKSCAN5, ZMIZ2, ZNF107, ZNF117, ZNF12, ZNF138, ZNF212, ZNF273, ZNF277, ZNF282, ZNF3, ZNF316, ZNF394, ZNF398, ZNF425, ZNF467, ZNF479, ZNF655, ZNF679, ZNF680, ZNF713, ZNF716, ZNF727, ZNF733P, ZNF735, ZNF736, ZNF746, ZNF767, ZNF775, ZNF777, ZNF783, ZNF786, ZNF789, ZNF800, ZNF804B, ZNF815P, ZNF853, ZNF862, ZNF890P, ZNF92, ZNHIT1, ZNRF2, ZNRF2P1, ZNRF2P2, ZP3, ZPBP, ZSCAN21, ZSCAN25, ZYX | | Method | Sequencing | | Analysis | | | Platform | | | Comments | complex variant | | Reference | Byrska_Bishop_et_al_2022 | | Pubmed ID | 36055201 | | Accession Number(s) | nsv5556846
| | Frequency | | Sample Size | 3202 | | Observed Gain | 0 | | Observed Loss | 0 | | Observed Complex | 0 | | Frequency | n/a |
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