Variant DetailsVariant: nssv15788393 | Internal ID | 19513746 | | Landmark | | | Location Information | | | Cytoband | 16q21 | | Allele length | | Assembly | Allele length | | hg38 | 17639736 | | hg19 | 17639730 |
| | Variant Type | OTHER sequence alteration | | Copy Number | | | Allele State | | | Allele Origin | | | Probe Count | | | Validation Flag | | | Merged Status | S | | Merged Variants | nsv4332560 | | Supporting Variants | | | Samples | | | Known Genes | AARS, ACD, AGRP, AP1G1, APOOP5, ATP6V0D1, ATXN1L, B3GNT9, BCAR1, BEAN1, C16orf47, C16orf70, C16orf80, C16orf86, CA7, CALB2, CBFB, CCDC113, CCDC79, CDH1, CDH11, CDH16, CDH3, CDH5, CDH8, CENPT, CES2, CES3, CES4A, CFDP1, CHST4, CHST6, CHTF8, CIRH1A, CKLF, CKLF-CMTM1, CLEC18A, CLEC18B, CLEC18C, CMTM1, CMTM2, CMTM3, CMTM4, CMTR2, CNGB1, CNOT1, COG4, COG8, CSNK2A2, CTCF, CTRB1, CTRB2, CTRL, CYB5B, DDX19A, DDX19B, DDX28, DHODH, DHX38, DPEP2, DPEP3, DUS2, DYNC1LI2, E2F4, EDC4, ELMO3, ENKD1, ESRP2, EXOC3L1, EXOSC6, FA2H, FAM65A, FAM96B, FBXL8, FHOD1, FUK, GFOD2, GINS3, GLG1, GOT2, HAS3, HCCAT5, HP, HPR, HSD11B2, HSF4, HYDIN, IL34, IST1, KCTD19, KIAA0895L, LCAT, LDHD, LINC00920, LINC00922, LOC100131303, LOC100132529, LOC100505942, LOC100506060, LOC100506083, LOC100506172, LOC101928035, LOC283922, LOC729159, LRRC29, LRRC36, MARVELD3, MIR140, MIR1538, MIR1972-1, MIR1972-2, MIR328, MIR6773, MLKL, MMP15, MTSS1L, NAE1, NDRG4, NFAT5, NFATC3, NIP7, NOB1, NOL3, NQO1, NRN1L, NUTF2, PARD6A, PDF, PDP2, PDPR, PDXDC2P, PHLPP2, PKD1L3, PLA2G15, PLEKHG4, PMFBP1, PRMT7, PRSS54, PSKH1, PSMB10, PSMD7, RANBP10, RFWD3, RLTPR, RRAD, SETD6, SF3B3, SLC12A4, SLC38A7, SLC7A6, SLC7A6OS, SLC9A5, SMPD3, SNORA46, SNORA50, SNORA70D, SNORD111, SNORD111B, SNORD71, SNTB2, ST3GAL2, TANGO6, TAT, TEPP, TERF2, THAP11, TK2, TMED6, TMEM170A, TMEM208, TPPP3, TRADD, TSNAXIP1, TXNL4B, USB1, VAC14, VAC14-AS1, VPS4A, WDR59, WWP2, ZDHHC1, ZFHX3, ZFP1, ZFP90, ZNF19, ZNF23, ZNF319, ZNF821, ZNRF1 | | 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) | nssv15788393
| | Frequency | | Sample Size | 10847 | | Observed Gain | 0 | | Observed Loss | 0 | | Observed Complex | 0 | | Frequency | 0.000046 |
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