A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5970408



Internal ID22745343
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:2282477..7636587hg38UCSC Ensembl
chr19:2282476..7701473hg19UCSC Ensembl
Cytoband19p13.2
Allele length
AssemblyAllele length
hg385354111
hg195418998
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17396638
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
CommentsDESC=[BREAKPOINT1]
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5970408
Frequency
Sample Size914
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer