A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18240995



Internal ID20808035
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:1213690..8318220hg38UCSC Ensembl
chr17:1116984..8221538hg19UCSC Ensembl
Cytoband17p13.1
Allele length
AssemblyAllele length
hg387104531
hg197104555
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6589878
Supporting Variants
Samples
Known GenesACADVL, ACAP1, AIPL1, ALOX12, ALOX12B, ALOX12P2, ALOX15, ALOX15B, ALOX15P1, ALOXE3, ANKFY1, ARHGEF15, ARRB2, ASGR1, ASGR2, ASPA, ATP1B2, ATP2A3, AURKB, BCL6B, BHLHA9, C17orf100, C17orf107, C17orf49, C17orf59, C17orf74, C17orf85, C1QBP, CAMKK1, CAMTA2, CD68, CHD3, CHRNB1, CHRNE, CLDN7, CLEC10A, CLUH, CNTROB, CRK, CTC1, CTDNEP1, CTNS, CXCL16, CYB5D1, CYB5D2, DERL2, DHX33, DLG4, DNAH2, DPH1, DVL2, EFNB3, EIF4A1, EIF5A, ELP5, EMC6, ENO3, FAM64A, FBXO39, FGF11, FXR2, GABARAP, GGT6, GLTPD2, GP1BA, GPS2, GSG2, GUCY2D, HES7, HIC1, INCA1, INPP5K, ITGAE, KCNAB3, KCTD11, KDM6B, KIAA0753, KIF1C, LINC00324, LOC100130950, LOC100506713, LOC101559451, LOC284009, LOC284023, LOC339166, LOC728392, LSMD1, MED11, MED31, METTL16, MINK1, MIR1253, MIR132, MIR195, MIR212, MIR22, MIR22HG, MIR324, MIR4314, MIR4520A, MIR4520B, MIR4521, MIR497, MIR497HG, MIR6776, MIR6864, MIR6865, MIR6883, MIS12, MNT, MPDU1, MYBBP1A, MYO1C, NEURL4, NLGN2, NLRP1, NUP88, OR1A1, OR1A2, OR1D2, OR1D4, OR1D5, OR1E1, OR1E2, OR1G1, OR3A1, OR3A2, OR3A3, OR3A4P, OVCA2, P2RX1, P2RX5, P2RX5-TAX1BP3, PAFAH1B1, PELP1, PER1, PFAS, PFN1, PHF23, PITPNA, PITPNA-AS1, PITPNM3, PLD2, PLSCR3, POLR2A, PRPF8, PSMB6, RABEP1, RANGRF, RAP1GAP2, RILP, RNASEK, RNASEK-C17orf49, RNF167, RPA1, RPAIN, RPL29P2, RTN4RL1, SAT2, SCARF1, SCARNA21, SCIMP, SENP3, SENP3-EIF4A1, SERPINF1, SERPINF2, SGSM2, SHBG, SHPK, SLC13A5, SLC16A11, SLC16A13, SLC25A11, SLC25A35, SLC2A4, SLC35G6, SLC43A2, SLC52A1, SMG6, SMTNL2, SMYD4, SNORA48, SNORA67, SNORD10, SNORD91A, SNORD91B, SOX15, SPAG7, SPATA22, SPEM1, SPNS2, SPNS3, SRR, TAX1BP3, TEKT1, TLCD2, TM4SF5, TMEM102, TMEM107, TMEM256, TMEM256-PLSCR3, TMEM88, TMEM95, TNFSF12, TNFSF12-TNFSF13, TNFSF13, TNK1, TP53, TRAPPC1, TRPV1, TRPV3, TSR1, TUSC5, TXNDC17, UBE2G1, USP6, VAMP2, VMO1, WDR81, WRAP53, WSCD1, XAF1, YBX2, YWHAE, ZBTB4, ZFP3, ZMYND15, ZNF232, ZNF594, ZZEF1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18240995
Frequency
Sample Size19652
Observed Gain0
Observed Loss0
Observed Complex0
Frequency0


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