A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18245574



Internal ID20812614
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:2282380..7636598hg38UCSC Ensembl
chr19:2282379..7701484hg19UCSC Ensembl
Cytoband19p13.2
Allele length
AssemblyAllele length
hg385354219
hg195419106
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6597296
Supporting Variants
Samples
Known GenesACER1, ACSBG2, AES, ALKBH7, ANKRD24, APBA3, ARHGEF18, ARRDC5, ATCAY, C19orf10, C19orf45, C19orf70, C19orf71, C19orf77, C3, CACTIN, CACTIN-AS1, CAMSAP3, CAPS, CATSPERD, CCDC94, CD70, CELF5, CHAF1A, CLPP, CRB3, CREB3L3, DAPK3, DENND1C, DIRAS1, DOHH, DPP9, DUS3L, EBI3, EEF2, EMR1, EMR4P, FEM1A, FLJ25758, FSD1, FUT3, FUT5, FUT6, FZR1, GADD45B, GIPC3, GNA11, GNA15, GNG7, GPR108, GTF2F1, HDGFRP2, HMG20B, HSD11B1L, INSR, KDM4B, KHSRP, LINGO3, LMNB2, LOC100128568, LOC100128573, LOC100131094, LONP1, LRG1, LSM7, MAP2K2, MATK, MBD3L2, MBD3L3, MBD3L4, MBD3L5, MCOLN1, MFSD12, MIR3940, MIR4746, MIR4747, MIR637, MIR6790, MIR6791, MIR6792, MIR6885, MIR7108, MIR7-3, MIR7-3HG, MLLT1, MPND, MRPL54, NCLN, NDUFA11, NFIC, NMRK2, NRTN, PCP2, PET100, PEX11G, PIAS4, PIP5K1C, PLIN3, PLIN4, PLIN5, PNPLA6, PRR22, PSPN, PTPRS, RANBP3, RAX2, RFX2, RPL36, S1PR4, SAFB, SAFB2, SEMA6B, SGTA, SH2D3A, SH3GL1, SHD, SIRT6, SLC25A23, SLC25A41, SLC39A3, SNORD37, SPPL2B, STAP2, TBXA2R, THOP1, TICAM1, TIMM13, TINCR, TJP3, TLE2, TLE6, TMIGD2, TMPRSS9, TNFAIP8L1, TNFSF14, TNFSF9, TRIP10, TUBB4A, UBXN6, UHRF1, VAV1, VMAC, XAB2, ZBTB7A, ZFR2, ZNF358, ZNF554, ZNF555, ZNF556, ZNF557, ZNF57, ZNF77, ZNRF4
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18245574
Frequency
Sample Size19652
Observed Gain0
Observed Loss0
Observed Complex0
Frequency0.00379


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