Variant DetailsVariant: nsv4339713 | Internal ID | 19840462 | | Landmark | | | Location Information | | | Cytoband | 10p11.1 | | Allele length | | Assembly | Allele length | | hg38 | 104173865 | | hg19 | 105891661 |
| | Variant Type | OTHER sequence alteration | | Copy Number | | | Allele State | | | Allele Origin | | | Probe Count | | | Validation Flag | | | Merged Status | M | | Merged Variants | | | Supporting Variants | nssv15787280 | | Samples | | | Known Genes | A1CF, ABCC2, ABI1, ACBD5, ACBD7, ACSL5, ACTA2, ACTR1A, ACTR3BP5, ADAMTS14, ADD3, ADD3-AS1, ADIRF, ADK, ADO, ADRA2A, AGAP11, AGAP4, AGAP5, AGAP6, AGAP7, AGAP8, AGAP9, AIFM2, ALDH18A1, ALOX5, ANAPC16, ANK3, ANKRD1, ANKRD2, ANKRD22, ANKRD26, ANKRD30A, ANKRD30BP3, ANTXRL, ANTXRLP1, ANXA11, ANXA2P3, ANXA7, ANXA8, ANXA8L1, ANXA8L2, AP3M1, APBB1IP, ARHGAP12, ARHGAP19, ARHGAP19-SLIT1, ARHGAP21, ARHGAP22, ARID5B, ARL3, ARL5B, ARMC3, ARMC4, AS3MT, ASAH2, ASAH2B, ASCC1, ATAD1, ATOH7, AVPI1, BAMBI, BBIP1, BEND3P3, BEND7, BICC1, BLNK, BLOC1S2, BMI1, BMPR1A, BMS1, BMS1P1, BMS1P2, BMS1P4, BMS1P5, BMS1P6, BTAF1, BTRC, C10orf10, C10orf105, C10orf107, C10orf11, C10orf111, C10orf113, C10orf115, C10orf12, C10orf126, C10orf128, C10orf129, C10orf131, C10orf2, C10orf25, C10orf32, C10orf32-ASMT, C10orf35, C10orf40, C10orf53, C10orf54, C10orf55, C10orf62, C10orf67, C10orf71, C10orf71-AS1, C10orf76, C10orf95, C10orf99, C1QL3, CACNB2, CALHM1, CALHM2, CALHM3, CAMK1D, CAMK2G, CASC10, CC2D2B, CCAR1, CCDC147, CCDC147-AS1, CCDC3, CCDC6, CCDC7, CCNJ, CCNY, CCNYL2, CCSER2, CDC123, CDH23, CDHR1, CDK1, CDNF, CELF2, CELF2-AS2, CEP55, CFL1P1, CH25H, CHAT, CHCHD1, CHST3, CHUK, CISD1, CNNM1, CNNM2, COL13A1, COL17A1, COMMD3, COMMD3-BMI1, COMTD1, COX15, CPEB3, CPN1, CREM, CRTAC1, CSGALNACT2, CSTF2T, CTGLF12P, CTNNA3, CTSLP2, CUBN, CUEDC2, CUL2, CUTC, CWF19L1, CXCL12, CYP17A1, CYP26A1, CYP26C1, CYP2C18, CYP2C19, CYP2C8, CYP2C9, DCLRE1C, DDIT4, DDX21, DDX50, DHTKD1, DKK1, DLG5, DLG5-AS1, DNA2, DNAJB12, DNAJC1, DNAJC12, DNAJC9, DNAJC9-AS1, DNMBP, DNMBP-AS1, DNTT, DPCD, DRGX, DUPD1, DUSP13, DUSP5, DYDC1, DYDC2, EBLN1, ECD, ECHDC3, EGR2, EIF4EBP2, EIF5AL1, ELOVL3, ENKUR, ENTPD1, ENTPD1-AS1, ENTPD7, EPC1, ERCC6, ERCC6-PGBD3, ERLIN1, EXOC6, EXOSC1, FAM107B, FAM133CP, FAM13C, FAM149B1, FAM170B, FAM170B-AS1, FAM171A1, FAM178A, FAM188A, FAM213A, FAM21A, FAM21B, FAM21C, FAM25A, FAM25B, FAM25C, FAM25G, FAM35A, FAM35BP, FAM35DP, FAS, FAS-AS1, FBXL15, FBXW4, FFAR4, FGF8, FGFBP3, FLJ31813, FLJ37201, FRA10AC1, FRAT1, FRAT2, FRMD4A, FRMPD2, FRMPD2P1, FUT11, FXYD4, FZD8, GAD2, GBF1, GDF10, GDF2, GHITM, GJD4, GLUD1, GLUD1P3, GLUD1P7, GOLGA7B, GOT1, GPAM, GPR158, GPR158-AS1, GPRIN2, GRID1, GRID1-AS1, GSTO1, GSTO2, GUCY2GP, H2AFY2, HECTD2, HELLS, HERC4, HHEX, HIF1AN, HK1, HKDC1, HNRNPA1P33, HNRNPA3P1, HNRNPF, HNRNPH3, HOGA1, HPS1, HPS6, HPSE2, HSD17B7P2, HSPA14, HTR7, IDE, IFIT1, IFIT1B, IFIT2, IFIT3, IFIT5, INA, IPMK, ITGA8, ITGB1, ITPRIP, JMJD1C, JMJD1C-AS1, KAT6B, KAZALD1, KCNIP2, KCNIP2-AS1, KCNMA1, KIAA1217, KIAA1279, KIAA1462, KIF11, KIF20B, KIF5B, KLLN, LBX1, LBX1-AS1, LCOR, LDB1, LDB3, LGI1, LINC00202-1, LINC00202-2, LINC00263, LINC00264, LINC00502, LINC00595, LINC00619, LINC00709, LINC00710, LINC00836, LINC00837, LINC00838, LINC00839, LINC00840, LINC00841, LINC00842, LINC00844, LINC00845, LINC00856, LINC00857, LINC00858, LINC00864, LINC00865, LINC00866, LINC00948, LINC00993, LINC00999, LIPA, LIPF, LIPJ, LIPK, LIPM, LIPN, LOC100129055, LOC100129213, LOC100130539, LOC100130992, LOC100188947, LOC100288974, LOC100499489, LOC100505540, LOC100505761, LOC100996758, LOC102031319, LOC283045, LOC283070, LOC439994, LOC441666, LOC642361, LOC728407, LOC729020, LOXL4, LRIT1, LRIT2, LRRC18, LRRC20, LRRC37A6P, LRRTM3, LYZL1, LYZL2, LZTS2, MAP3K8, MAPK8, MARCH5, MARCH8, MARK2P9, MARVELD1, MASTL, MAT1A, MBL1P, MBL2, MCM10, MCU, MEIG1, MGEA5, MICU1, MINPP1, MIR107, MIR1256, MIR1265, MIR1287, MIR1296, MIR1307, MIR146B, MIR1915, MIR3156-1, MIR3157, MIR3158-1, MIR3158-2, MIR346, MIR3924, MIR4294, MIR4295, MIR4480, MIR4482-1, MIR4675, MIR4676, MIR4678, MIR4679-1, MIR4679-2, MIR4680, MIR4683, MIR4685, MIR5100, MIR511-1, MIR548AV, MIR5586, MIR5692C2, MIR603, MIR604, MIR605, MIR608, MIR609, MIR6715A, MIR6715B, MIR7152, MIR7162, MIR8086, MIR936, MIR938, MKX, MLLT10, MMRN2, MMS19, MORN4, MPP7, MRC1, MRPL43, MRPS16, MSMB, MSRB2, MSS51, MTPAP, MTRNR2L5, MTRNR2L7, MXI1, MYO3A, MYOF, MYOZ1, MYPN, NCOA4, NDST2, NDUFB8, NEBL, NEBL-AS1, NEURL1, NEUROG3, NFKB2, NKX2-3, NMT2, NOC3L, NODAL, NOLC1, NPFFR1, NPM3, NPY4R, NRBF2, NRG3, NRP1, NSUN6, NT5C2, NUDT13, NUDT5, NUDT9P1, NUTM2A, NUTM2A-AS1, NUTM2B, NUTM2D, OBFC1, OGDHL, OIT3, OLAH, OPALIN, OPN4, OPTN, OR13A1, OTUD1, P4HA1, PALD1, PANK1, PAPSS2, PARD3, PARD3-AS1, PARG, PAX2, PBLD, PCBD1, PCDH15, PCGF5, PCGF6, PDCD11, PDCD4, PDCD4-AS1, PDE6C, PDLIM1, PDSS1, PDZD7, PGAM1, PGBD3, PHYH, PHYHIPL, PI4K2A, PIK3AP1, PIP4K2A, PIPSL, PITX3, PKD2L1, PLA2G12B, PLAC9, PLAU, PLCE1, PLCE1-AS1, PLXDC2, POLL, POLR3A, PPA1, PPIAP30, PPIF, PPP1R3C, PPP3CB, PPRC1, PRF1, PRKG1, PRKG1-AS1, PROSER2, PROSER2-AS1, PRPF18, PRTFDC1, PSAP, PSD, PTCHD3, PTCHD3P1, PTEN, PTER, PTF1A, PTPLA, PTPN20A, PTPN20B, PYROXD2, R3HCC1L, RAB18, RASGEF1A, RASSF4, RBM20, RBP3, RBP4, REEP3, RET, RGR, RHOBTB1, RNLS, RNU6-53P, RPL13AP6, RPP30, RPP38, RPS24, RRP12, RSU1, RSU1P2, RTKN2, RUFY2, SAMD8, SAR1A, SCD, SEC24C, SEC31B, SEC61A2, SEMA4G, SEPHS1, SEPT7P9, SFR1, SFRP5, SFTA1P, SFTPA1, SFTPA2, SFTPD, SFXN2, SFXN3, SGMS1, SGPL1, SH2D4B, SH3PXD2A, SH3PXD2A-AS1, SHOC2, SIRT1, SKIDA1, SLC16A12, SLC16A9, SLC18A3, SLC25A16, SLC25A28, SLC29A3, SLC35G1, SLC39A12, SLIT1, SLK, SMC3, SMNDC1, SNCG, SNORA12, SNORD98, SORBS1, SORCS1, SORCS3, SORCS3-AS1, SPAG6, SPOCK2, SRGN, ST8SIA6, ST8SIA6-AS1, STAM, STAMBPL1, STOX1, SUFU, SUPV3L1, SUV39H2, SVIL, SVILP1, SYNPO2L, SYT15, TACR2, TAF5, TBATA, TBC1D12, TCTN3, TECTB, TET1, TFAM, THNSL1, TIMM23, TLL2, TLX1, TLX1NB, TM9SF3, TMEM180, TMEM236, TMEM254, TMEM254-AS1, TMEM26, TMEM72, TMEM72-AS1, TNKS2, TNKS2-AS1, TRDMT1, TRIM8, TSPAN14, TSPAN15, TTC18, TYSND1, UBE2D1, UBTD1, UCMA, UNC5B, UNC5B-AS1, UPF2, USMG5, USP54, USP6NL, VCL, VDAC2, VIM, VIM-AS1, VPS26A, VSTM4, VTI1A, WAC, WAC-AS1, WAPAL, WBP1L, WDFY4, WDR96, WNT8B, XPNPEP1, YME1L1, ZCCHC24, ZDHHC16, ZDHHC6, ZEB1, ZEB1-AS1, ZFAND4, ZFYVE27, ZMIZ1, ZMIZ1-AS1, ZNF22, ZNF239, ZNF248, ZNF25, ZNF32, ZNF32-AS1, ZNF32-AS2, ZNF32-AS3, ZNF33A, ZNF33B, ZNF33BP1, ZNF365, ZNF37A, ZNF37BP, ZNF438, ZNF485, ZNF487, ZNF488, ZNF503, ZNF503-AS1, ZNF503-AS2, ZNF518A, ZSWIM8, ZSWIM8-AS1, ZWINT | | Method | Sequencing | | Analysis | SV 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 | | | Comments | complex variant | | Reference | gnomAD_Structural_Variants | | Pubmed ID | 12345678 | | Accession Number(s) | nsv4339713
| | Frequency | | Sample Size | 10847 | | Observed Gain | 0 | | Observed Loss | 0 | | Observed Complex | 0 | | Frequency | n/a |
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