A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3230349



Internal ID22371903
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:47957693..50112931hg38UCSC Ensembl
Outerchr19:48460950..50616188hg19UCSC Ensembl
Cytoband19q13.33
Allele length
AssemblyAllele length
hg382155239
hg192155239
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14263313
SamplesNA19240
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-A10, SNAR-A11, SNAR-A14, SNAR-A3, SNAR-A4, SNAR-A5, SNAR-A6, SNAR-A7, SNAR-A8, SNAR-A9, SNAR-G1, SNAR-G2, SNORD32A, SNORD33, SNORD34, SNORD35A, SNORD35B, SNRNP70, SPACA4, SPHK2, SULT2B1, SYNGR4, TBC1D17, TEAD2, TMEM143, TRPM4, TSKS, TULP2, VRK3, ZNF114, ZNF473
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3230349
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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