Variant DetailsVariant: nssv15789443 | Internal ID | 19514808 | | Landmark | | | Location Information | | | Cytoband | 2p16.2 | | Allele length | | Assembly | Allele length | | hg38 | 33739022 | | hg19 | 33766398 |
| | Variant Type | OTHER sequence alteration | | Copy Number | | | Allele State | | | Allele Origin | | | Probe Count | | | Validation Flag | | | Merged Status | S | | Merged Variants | nsv4335876 | | Supporting Variants | | | Samples | | | Known Genes | ABCG5, ABCG8, ABHD1, ADCY3, AGBL5, ALK, APOB, ARHGEF33, ASXL2, ATAD2B, ATL2, ATP6V1E2, ATRAID, BIRC6, BRE, BRE-AS1, C2orf16, C2orf43, C2orf44, C2orf53, C2orf61, C2orf70, C2orf71, C2orf91, CAD, CALM2, CAMKMT, CAPN13, CAPN14, CCDC121, CDC42EP3, CDKL4, CEBPZ, CEBPZ-AS1, CENPA, CENPO, CGREF1, CIB4, CLIP4, COX7A2L, CRIM1, CRIPT, CYP1B1, CYP1B1-AS1, DHX57, DNAJC27, DNAJC27-AS1, DNAJC5G, DNMT3A, DPY30, DPYSL5, DRC1, DTNB, DYNC2LI1, EFR3B, EHD3, EIF2AK2, EIF2B4, EMILIN1, EML4, EPAS1, EPCAM, EPT1, FAM179A, FAM228A, FAM228B, FAM98A, FBXO11, FEZ2, FKBP1B, FLJ31356, FNDC4, FOSL2, FOXN2, FSHR, FTH1P3, GALM, GALNT14, GAREML, GCKR, GDF7, GEMIN6, GPATCH11, GPN1, GPR113, GTF2A1L, GTF3C2, HAAO, HADHA, HADHB, HEATR5B, HNRNPLL, HS1BP3, IFT172, ITSN2, KCNG3, KCNK12, KCNK3, KHK, KIF3C, KLHL29, KRTCAP3, LAPTM4A, LBH, LCLAT1, LHCGR, LINC00486, LINC00954, LINC01118, LINC01119, LINC01121, LINC01126, LOC100271832, LOC100288911, LOC100505624, LOC100505716, LOC100506142, LOC101805491, LOC375196, LOC388942, LOC645949, LOC728730, LOC728819, LRPPRC, LTBP1, MAP4K3, MAPRE3, MATN3, MCFD2, MEMO1, MFSD2B, MIR1301, MIR4263, MIR4765, MIR548AD, MIR558, MIR559, MORN2, MPV17, MRPL33, MSH2, MSH6, MTA3, MYADML, NCOA1, NDUFAF7, NLRC4, NRBP1, NRXN1, OST4, OTOF, OXER1, PFN4, PIGF, PKDCC, PLB1, PLEKHH2, POMC, PPM1B, PPM1G, PPP1CB, PPP1R21, PREB, PREPL, PRKCE, PRKD3, PTRHD1, PUM2, QPCT, RAB10, RASGRP3, RBKS, RHOB, RHOQ, RMDN2, RMDN2-AS1, SDC1, SF3B14, SIX2, SIX3, SIX3-AS1, SLC30A3, SLC30A6, SLC35F6, SLC3A1, SLC4A1AP, SLC5A6, SLC8A1, SLC8A1-AS1, SNORD53, SNORD92, SNX17, SOCS5, SOS1, SPAST, SPDYA, SRBD1, SRD5A2, SRSF7, STON1, STON1-GTF2A1L, STRN, SULT6B1, SUPT7L, TCF23, THADA, THUMPD2, TMEM178A, TMEM214, TMEM247, TP53I3, TRIM54, TRMT61B, TTC27, TTC32, TTC7A, UBXN2A, UCN, VIT, WDR35, WDR43, XDH, YIPF4, YPEL5, ZFP36L2, ZNF512, ZNF513 | | 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) | nssv15789443
| | Frequency | | Sample Size | 10847 | | Observed Gain | 0 | | Observed Loss | 0 | | Observed Complex | 0 | | Frequency | 0.000046 |
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