A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4321864



Internal ID19838367
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:46154640..51131518hg38UCSC Ensembl
chr19:46657897..51634775hg19UCSC Ensembl
Cytoband19q13.32
Allele length
AssemblyAllele length
hg384976879
hg194976879
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16090117
Samples
Known GenesACPT, ADM5, AKT1S1, ALDH16A1, AP2A1, AP2S1, ARHGAP35, ASPDH, ATF5, BAX, BBC3, BCAT2, BCL2L12, BSPH1, C19orf48, C19orf68, C19orf73, C19orf81, C5AR1, C5AR2, CA11, CABP5, CALM3, CARD8, CCDC114, CCDC155, CCDC8, CCDC9, CD37, CGB, CGB1, CGB2, CGB5, CGB7, CGB8, CLEC11A, CPT1C, CRX, CTU1, CYTH2, DACT3, DACT3-AS1, DBP, DHDH, DHX34, DKFZp434J0226, DKKL1, EHD2, ELSPBP1, EMC10, EMP3, FAM71E1, FAM83E, FCGRT, FGF21, FKRP, FLJ26850, FLT3LG, FTL, FUT1, FUT2, FUZ, GLTSCR1, GLTSCR2, GNG8, GPR32, GRIN2D, GRWD1, GYS1, HIF3A, HRC, HSD17B14, IGFL1, IGFL2, IL4I1, IRF3, IZUMO1, IZUMO2, JOSD2, KCNA7, KCNC3, KCNJ14, KDELR1, KLK1, KLK10, KLK11, KLK12, KLK13, KLK14, KLK15, KLK2, KLK3, KLK4, KLK5, KLK6, KLK7, KLK8, KLK9, KLKP1, KPTN, LHB, LIG1, LIN7B, LMTK3, LOC100505812, LOC100507003, LOC101059948, LRRC4B, MAMSTR, MED25, MEIS3, MGC45922, MIR150, MIR3190, MIR3191, MIR320E, MIR4324, MIR4749, MIR4750, MIR4751, MIR5088, MIR6798, MIR6799, MIR6800, MYBPC2, MYH14, NAPA, NAPA-AS1, NAPSA, NAPSB, NOSIP, NPAS1, NR1H2, NTF4, NTN5, NUCB1, NUP62, PIH1D1, PLA2G4C, PLEKHA4, PNKP, PNMAL1, PNMAL2, POLD1, PPFIA3, PPP1R15A, PPP5C, PPP5D1, PRKD2, PRMT1, PRR12, PRR24, PRRG2, PTGIR, PTH2, PTOV1, PTOV1-AS1, RASIP1, RCN3, RNU6-66P, RPL13A, RPL13AP5, RPL18, RPS11, RRAS, RUVBL2, SAE1, SCAF1, SEC1P, SEPW1, SHANK1, SIGLEC11, SIGLEC16, SIGLEC9, SLC17A7, SLC1A5, SLC6A16, SLC8A2, SNAR-A1, SNAR-A10, SNAR-A11, SNAR-A12, SNAR-A13, SNAR-A14, SNAR-A2, SNAR-A3, SNAR-A4, SNAR-A5, SNAR-A6, SNAR-A7, SNAR-A8, SNAR-A9, SNAR-B1, SNAR-B2, SNAR-C1, SNAR-C2, SNAR-C3, SNAR-C4, SNAR-C5, SNAR-D, SNAR-E, SNAR-F, SNAR-G1, SNAR-G2, SNORD23, SNORD32A, SNORD33, SNORD34, SNORD35A, SNORD35B, SNORD88A, SNORD88B, SNORD88C, SNRNP70, SPACA4, SPHK2, SPIB, STRN4, SULT2A1, SULT2B1, SYNGR4, SYT3, TBC1D17, TEAD2, TMEM143, TMEM160, TPRX1, TRPM4, TSKS, TULP2, VRK3, ZC3H4, ZNF114, ZNF473, ZNF541
MethodSequencing
AnalysisSV 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
ReferencegnomAD_Structural_Variants
Pubmed ID12345678
Accession Number(s)nsv4321864
Frequency
Sample Size10847
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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