Variant DetailsVariant: nssv15787784 | Internal ID | 19513127 | | Landmark | | | Location Information | | | Cytoband | 12q14.1 | | Allele length | | Assembly | Allele length | | hg38 | 41692906 | | hg19 | 41692903 |
| | Variant Type | OTHER sequence alteration | | Copy Number | | | Allele State | | | Allele Origin | | | Probe Count | | | Validation Flag | | | Merged Status | S | | Merged Variants | nsv4345788 | | Supporting Variants | | | Samples | | | Known Genes | ACSS3, ACTR6, ALX1, AMDHD1, ANKS1B, ANO4, APAF1, ATP2B1, ATXN7L3B, AVPR1A, BBS10, BEST3, BTG1, C12orf29, C12orf50, C12orf56, C12orf61, C12orf66, C12orf74, C12orf79, CAND1, CAPS2, CCDC38, CCDC41, CCDC41-AS1, CCDC59, CCER1, CCT2, CDK17, CEP290, CLLU1, CLLU1OS, CNOT2, CPM, CPSF6, CRADD, CSRP2, DCN, DEPDC4, DPY19L2, DUSP6, DYRK2, E2F7, EEA1, ELK3, EPYC, FAM19A2, FAM71C, FGD6, FLJ41278, FRS2, GALNT4, GAS2L3, GLIPR1, GLIPR1L1, GLIPR1L2, GNS, GOLGA2P5, GRIP1, HAL, HELB, HMGA2, IFNG, IFNG-AS1, IKBIP, IL22, IL26, IRAK3, KCNC2, KCNMB4, KERA, KITLG, KRR1, KRT19P2, LEMD3, LGR5, LIN7A, LINC00615, LINC00936, LLPH, LOC100130075, LOC100507175, LOC100507250, LOC100507377, LOC643339, LOC643711, LOC643770, LOC728084, LRRC10, LRRIQ1, LTA4H, LUM, LYZ, MDM1, MDM2, METAP2, METTL25, MGAT4C, MIR1251, MIR1252, MIR1279, MIR135A2, MIR1827, MIR331, MIR3685, MIR3913-1, MIR3913-2, MIR4303, MIR4699, MIR492, MIR548AL, MIR548C, MIR548Z, MIR5692B, MIR5700, MIR6074, MIR6125, MIR617, MIR618, MIR7844, MIRLET7I, MKRN9P, MON2, MRPL42, MRS2P2, MSRB3, MYF5, MYF6, NAP1L1, NAV3, NDUFA12, NEDD1, NR1H4, NR2C1, NTN4, NTS, NUDT4, NUDT4P1, NUDT4P2, NUP107, OSBPL8, OTOGL, PAWR, PGAM1P5, PHLDA1, PLEKHG7, PLXNC1, POC1B, POC1B-GALNT4, PPFIA2, PPM1H, PPP1R12A, PTPRB, PTPRQ, PTPRR, RAB21, RAB3IP, RAP1B, RASSF3, RASSF9, RMST, RPSAP52, SCYL2, SLC16A7, SLC17A8, SLC25A3, SLC35E3, SLC6A15, SLC9A7P1, SNORA53, SNORA70G, SNRPF, SOCS2, SOCS2-AS1, SRGAP1, SYT1, TBC1D15, TBC1D30, TBK1, THAP2, TMBIM4, TMCC3, TMEM19, TMEM5, TMPO, TMPO-AS1, TMTC2, TMTC3, TPH2, TRHDE, TRHDE-AS1, TSPAN19, TSPAN8, UBE2N, UHRF1BP1L, USP15, USP44, VEZT, WIF1, XPOT, YEATS4, ZDHHC17, ZFC3H1 | | 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) | nssv15787784
| | Frequency | | Sample Size | 10847 | | Observed Gain | 0 | | Observed Loss | 0 | | Observed Complex | 0 | | Frequency | 0.000046 |
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