Variant DetailsVariant: nssv15788625 | Internal ID | 19513982 | | Landmark | | | Location Information | | | Cytoband | 18q11.2 | | Allele length | | Assembly | Allele length | | hg38 | 49509402 | | hg19 | 49596673 |
| | Variant Type | OTHER sequence alteration | | Copy Number | | | Allele State | | | Allele Origin | | | Probe Count | | | Validation Flag | | | Merged Status | S | | Merged Variants | nsv4336672 | | Supporting Variants | | | Samples | | | Known Genes | ACAA2, ALPK2, ANKRD29, AQP4, AQP4-AS1, ASXL3, ATP5A1, ATP8B1, B4GALT6, BCL2, BOD1L2, C18orf21, C18orf25, C18orf32, C18orf54, CABYR, CBLN2, CCBE1, CCDC102B, CCDC11, CCDC178, CCDC68, CD226, CDH19, CDH2, CDH20, CDH7, CELF4, CHST9, CPLX4, CTIF, CXXC1, DCC, DOK6, DSC1, DSC2, DSC3, DSEL, DSG1, DSG2, DSG3, DSG4, DTNA, DYM, DYNAP, ELAC1, ELP2, EPG5, FECH, FHOD3, GALNT1, GAREM, GRP, GTSCR1, HAUS1, HDHD2, HMSD, HRH4, IER3IP1, IMPACT, INO80C, KATNAL2, KC6, KCTD1, KDSR, KIAA1328, KIAA1468, KLHL14, LAMA3, LINC00305, LINC00669, LINC00907, LINC-ROR, LIPG, LMAN1, LOC100287225, LOC100505474, LOC100505549, LOC100505776, LOC100652770, LOC100996669, LOC284294, LOC400654, LOC643542, LOC728606, LOC729950, LOXHD1, MALT1, MAPK4, MAPRE2, MBD1, MBD2, MC4R, ME2, MEP1B, MEX3C, MIR122, MIR1539, MIR187, MIR302F, MIR320C2, MIR3591, MIR3975, MIR4318, MIR4319, MIR4320, MIR4529, MIR4743, MIR4744, MIR5011, MIR5583-1, MIR5583-2, MIR8057, MOCOS, MRO, MYO5B, NARS, NEDD4L, NETO1, NOL4, OACYLP, ONECUT2, OSBPL1A, PHLPP1, PIAS2, PIGN, PIK3C3, PMAIP1, POLI, PSMA8, PSTPIP2, RAB27B, RAX, RIT2, RNF125, RNF138, RNF152, RNF165, RPL17, RPL17-C18orf32, RPRD1A, RTTN, SCARNA17, SEC11C, SERPINB10, SERPINB11, SERPINB12, SERPINB13, SERPINB2, SERPINB3, SERPINB4, SERPINB5, SERPINB7, SERPINB8, SETBP1, SIGLEC15, SKA1, SKOR2, SLC14A1, SLC14A2, SLC25A52, SLC39A6, SMAD2, SMAD4, SMAD7, SNORA37, SNORD58A, SNORD58B, SNORD58C, SOCS6, SS18, ST8SIA3, ST8SIA5, STARD6, SYT4, TAF4B, TCEB3B, TCEB3C, TCEB3CL, TCEB3CL2, TCF4, TMX3, TNFRSF11A, TPGS2, TRAPPC8, TTC39C, TTR, TXNL1, VPS4B, WBP11P1, WDR7, ZBTB7C, ZCCHC2, ZNF24, ZNF271, ZNF396, ZNF397, ZNF521, ZNF532, ZSCAN30 | | 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) | nssv15788625
| | Frequency | | Sample Size | 10847 | | Observed Gain | 0 | | Observed Loss | 0 | | Observed Complex | 0 | | Frequency | 0.000277 |
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