A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6598038



Internal ID20971109
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:45719988..49018154hg38UCSC Ensembl
chr19:46223246..49521411hg19UCSC Ensembl
Cytoband19q13.32
Allele length
AssemblyAllele length
hg383298167
hg193298166
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18245655
Samples
Known GenesAP2S1, ARHGAP35, BAX, BBC3, BCAT2, BSPH1, C19orf68, C5AR1, C5AR2, CA11, CABP5, CALM3, CARD8, CCDC114, CCDC61, CCDC8, CCDC9, CRX, CYTH2, DACT3, DACT3-AS1, DBP, DHDH, DHX34, DKFZp434J0226, DMPK, DMWD, EHD2, ELSPBP1, EMP3, FAM83E, FBXO46, FGF21, FKRP, FOXA3, FTL, FUT1, FUT2, GLTSCR1, GLTSCR2, GNG8, GRIN2D, GRWD1, GYS1, HIF3A, HSD17B14, IGFL1, IGFL2, IGFL3, IGFL4, IRF2BP1, IZUMO1, KCNJ14, KDELR1, KPTN, LHB, LIG1, LMTK3, LOC100505812, LOC388553, MAMSTR, MEIS3, MIR3190, MIR3191, MIR320E, MIR6798, MIR769, MYPOP, NANOS2, NAPA, NAPA-AS1, NOVA2, NPAS1, NTN5, NUCB1, PGLYRP1, PLA2G4C, PLEKHA4, PNMAL1, PNMAL2, PPP1R15A, PPP5C, PPP5D1, PRKD2, PRR24, PTGIR, RASIP1, RNU6-66P, RPL18, RSPH6A, RUVBL2, SAE1, SEC1P, SEPW1, SIX5, SLC1A5, 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-C1, SNAR-C2, SNAR-C3, SNAR-C4, SNAR-C5, SNAR-E, SNORD23, SPACA4, SPHK2, STRN4, SULT2A1, SULT2B1, SYMPK, SYNGR4, TMEM143, TMEM160, TPRX1, TULP2, ZC3H4, ZNF114, ZNF541
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6598038
Frequency
Sample Size19652
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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