Variant DetailsVariant: nsv4337085 | Internal ID | 19839926 | | Landmark | | | Location Information | | | Cytoband | 9q22.2 | | Allele length | | Assembly | Allele length | | hg38 | 46014323 | | hg19 | 46291254 |
| | Variant Type | OTHER sequence alteration | | Copy Number | | | Allele State | | | Allele Origin | | | Probe Count | | | Validation Flag | | | Merged Status | M | | Merged Variants | | | Supporting Variants | nssv15791628 | | Samples | | | Known Genes | AAED1, ABCA1, ABL1, ABO, ACTL7A, ACTL7B, ADAMTS13, ADAMTSL2, AIF1L, AK1, AK8, AKAP2, AKNA, ALAD, ALDOB, ALG2, AMBP, ANGPTL2, ANKRD19P, ANKS6, ANP32B, ARPC5L, ASB6, ASPN, ASS1, ASTN2, ATP6V1G1, AUH, BAAT, BARHL1, BARX1, BICD2, BRD3, BRINP1, BSPRY, C5, C9orf106, C9orf114, C9orf117, C9orf129, C9orf152, C9orf156, C9orf16, C9orf171, C9orf3, C9orf43, C9orf50, C9orf62, C9orf78, C9orf84, C9orf89, C9orf9, C9orf91, C9orf96, CACFD1, CCBL1, CCDC180, CDC14B, CDC26, CDK5RAP2, CDK9, CEL, CELP, CENPP, CERCAM, CIZ1, CNTRL, COL15A1, COL27A1, COL5A1, COQ4, CORO2A, CRAT, CRB2, CTNNAL1, CTSV, CYLC2, DAB2IP, DBH, DBH-AS1, DDX31, DEC1, DENND1A, DFNB31, DIRAS2, DNAJC25, DNAJC25-GNG10, DNM1, DOLK, DOLPP1, DPM2, ECM2, ENDOG, ENG, EPB41L4B, ERCC6L2, ERP44, EXOSC2, FAM102A, FAM120A, FAM120AOS, FAM129B, FAM163B, FAM206A, FAM225A, FAM225B, FAM73B, FAM78A, FANCC, FBP1, FBP2, FBXW2, FCN1, FCN2, FGD3, FIBCD1, FKBP15, FKTN, FNBP1, FOXE1, FPGS, FRRS1L, FSD1L, FUBP3, GABBR2, GADD45G, GALNT12, GAPVD1, GARNL3, GBGT1, GFI1B, GGTA1P, GLE1, GNG10, GOLGA1, GOLGA2, GPR107, GPR21, GRIN3A, GSN, GSN-AS1, GTF3C4, GTF3C5, HABP4, HDHD3, HEMGN, HIATL1, HIATL2, HSD17B3, HSDL2, HSPA5, IARS, IER5L, IKBKAP, INIP, INVS, IPPK, KIAA0368, KIAA1958, KIF12, KLF4, LAMC3, LCN2, LHX2, LHX6, LINC00092, LINC00094, LINC00474, LINC00475, LINC00476, LINC00587, LINC00963, LMX1B, LOC100128076, LOC100128361, LOC100128505, LOC100129034, LOC100129316, LOC100132077, LOC100132781, LOC100272217, LOC100288842, LOC100289019, LOC100499484, LOC100499484-C9ORF174, LOC100505478, LOC100506100, LOC100507346, LOC100996590, LOC101448202, LOC158434, LOC158435, LOC286359, LOC286367, LOC286370, LOC340508, LOC340515, LOC401557, LOC441454, LOC441455, LOC441461, LPAR1, LPPR1, LRRC37A5P, LRRC8A, LRSAM1, MAPKAP1, MED22, MED27, MEGF9, MIR147A, MIR181A2, MIR181A2HG, MIR181B2, MIR199B, MIR219-2, MIR2278, MIR23B, MIR24-1, MIR27B, MIR2861, MIR2964A, MIR3074, MIR3134, MIR3154, MIR32, MIR3651, MIR3689A, MIR3689B, MIR3689C, MIR3689D1, MIR3689D2, MIR3689E, MIR3689F, MIR3910-1, MIR3910-2, MIR3911, MIR3960, MIR4290, MIR4291, MIR4478, MIR455, MIR4668, MIR4669, MIR4670, MIR4672, MIR548Q, MIR600, MIR600HG, MIR601, MIR6081, MIR6854, MIR6855, MIR6856, MIR6877, MIR7150, MIR7702, MIR8081, MIRLET7A1, MIRLET7D, MIRLET7DHG, MIRLET7F1, MORN5, MRPL50, MRRF, MSANTD3, MSANTD3-TMEFF1, MURC, MUSK, MVB12B, NAIF1, NAMA, NANS, NCBP1, NCS1, NDUFA8, NEK6, NFIL3, NINJ1, NIPSNAP3A, NIPSNAP3B, NOL8, NR4A3, NR5A1, NR6A1, NRON, NTMT1, NTNG2, NUP188, NUP214, NUTM2F, NUTM2G, OBP2B, ODF2, OGN, OLFM1, OLFML2A, OMD, OR13C2, OR13C3, OR13C4, OR13C5, OR13C8, OR13C9, OR13D1, OR13F1, OR1B1, OR1J1, OR1J2, OR1J4, OR1K1, OR1L1, OR1L3, OR1L4, OR1L6, OR1L8, OR1N1, OR1N2, OR1Q1, OR2K2, OR5C1, ORM1, ORM2, PALM2, PALM2-AKAP2, PAPPA, PAPPA-AS1, PBX3, PDCL, PHF19, PHF2, PHYHD1, PIP5KL1, PKN3, POLE3, POMT1, PPAPDC3, PPP2R4, PPP3R2, PPP6C, PRDM12, PRPF4, PRRC2B, PRRX2, PSMB7, PSMD5, PSMD5-AS1, PTBP3, PTCH1, PTGES, PTGES2, PTGES2-AS1, PTGR1, PTGS1, PTPDC1, PTPN3, PTRH1, QRFP, RAB14, RABEPK, RABGAP1, RAD23B, RALGDS, RALGPS1, RAPGEF1, RBM18, RC3H2, REXO4, RGS3, RNF183, RNF20, RNU6ATAC, ROR2, RPL12, RPL35, RPL7A, RXRA, SARDH, SCAI, SEC61B, SEMA4D, SET, SETX, SH2D3C, SH3GLB2, SLC25A25, SLC27A4, SLC2A6, SLC2A8, SLC31A1, SLC31A2, SLC35D2, SLC44A1, SLC46A2, SMC2, SNORA65, SNORA70C, SNORA84, SNORD24, SNORD36A, SNORD36B, SNORD36C, SNORD62A, SNORD62B, SNORD90, SNX30, SPTAN1, SPTLC1, ST6GALNAC4, ST6GALNAC6, STOM, STRBP, STX17, STXBP1, SURF1, SURF2, SURF4, SURF6, SUSD1, SUSD3, SVEP1, SWI5, SYK, TAL2, TBC1D13, TBC1D2, TDRD7, TEX10, TGFBR1, TLR4, TMEFF1, TMEM245, TMEM246, TMEM38B, TMEM8C, TMOD1, TNC, TNFSF15, TNFSF8, TOR1A, TOR1B, TOR2A, TRAF1, TRIM14, TRIM32, TRUB2, TSC1, TSTD2, TTC16, TTF1, TTLL11, TXN, TXNDC8, UCK1, UGCG, UNQ6494, URM1, USP20, VAV2, WDR31, WDR34, WDR38, WDR5, WNK2, XPA, ZBTB26, ZBTB34, ZBTB43, ZBTB6, ZDHHC12, ZER1, ZFP37, ZNF169, ZNF189, ZNF367, ZNF462, ZNF483, ZNF484, ZNF510, ZNF618, ZNF782, ZNF79, ZNF883 | | 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) | nsv4337085
| | Frequency | | Sample Size | 10847 | | Observed Gain | 0 | | Observed Loss | 0 | | Observed Complex | 0 | | Frequency | n/a |
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