A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17105350



Internal ID21483376
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:47959661..50091195hg38UCSC Ensembl
chr19:48462918..50594452hg19UCSC Ensembl
Cytoband19q13.33
Allele length
AssemblyAllele length
hg382131535
hg192131535
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5667352
Supporting Variants
SamplesHG03732
Known GenesADM5, AKT1S1, ALDH16A1, AP2A1, ATF5, BAX, BCAT2, BCL2L12, BSPH1, C19orf68, C19orf73, CA11, CABP5, CARD8, CCDC114, CCDC155, CD37, CGB, CGB1, CGB2, CGB5, CGB7, CGB8, CPT1C, CYTH2, DBP, DHDH, DKKL1, ELSPBP1, EMP3, FAM83E, FCGRT, FGF21, FLJ26850, FLT3LG, FTL, FUT1, FUT2, FUZ, GRIN2D, GRWD1, GYS1, HRC, HSD17B14, IL4I1, IRF3, IZUMO1, KCNA7, KCNJ14, KDELR1, LHB, LIG1, LIN7B, LMTK3, LOC100505812, LOC100507003, LOC101059948, MAMSTR, MED25, MIR150, MIR4324, MIR4749, MIR4750, MIR4751, MIR5088, MIR6798, MIR6799, MIR6800, NOSIP, NTF4, NTN5, NUCB1, NUP62, PIH1D1, PLA2G4C, PLEKHA4, PNKP, PPFIA3, PPP1R15A, PRMT1, PRR12, PRRG2, PTH2, PTOV1, PTOV1-AS1, RASIP1, RCN3, RPL13A, RPL13AP5, RPL18, RPS11, RRAS, RUVBL2, SCAF1, SEC1P, SIGLEC11, SIGLEC16, SLC17A7, SLC6A16, SNAR-G1, SNAR-G2, SNORD32A, SNORD33, SNORD34, SNORD35A, SNORD35B, SNRNP70, SPACA4, SPHK2, SULT2B1, SYNGR4, TBC1D17, TEAD2, TMEM143, TRPM4, TSKS, TULP2, VRK3, ZNF114, ZNF473
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nssv17105350
Frequency
Sample Size35
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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