A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6598416



Internal ID20971487
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:40109815..44449696hg38UCSC Ensembl
chr19:40615722..44953884hg19UCSC Ensembl
Cytoband19q13.2
Allele length
AssemblyAllele length
hg384339882
hg194338163
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18248411
Samples
Known GenesADCK4, AKT2, ARHGEF1, ATP1A3, ATP5SL, AXL, B3GNT8, B9D2, BCKDHA, BLVRB, C19orf47, C19orf54, C19orf69, CADM4, CCDC97, CD177, CD79A, CEACAM1, CEACAM21, CEACAM3, CEACAM4, CEACAM5, CEACAM6, CEACAM7, CEACAM8, CIC, CNFN, CNTD2, CXCL17, CYP2A13, CYP2A6, CYP2A7, CYP2B6, CYP2B7P, CYP2F1, CYP2G1P, CYP2S1, DEDD2, DMRTC2, EGLN2, ERF, ETHE1, EXOSC5, GRIK5, GSK3A, HIPK4, HNRNPUL1, IRGC, IRGQ, ITPKC, KCNN4, LIPE, LIPE-AS1, LOC100289650, LOC100379224, LOC100505495, LOC100505622, LOC100505715, LOC284344, LTBP4, LYPD3, LYPD4, LYPD5, MAP3K10, MEGF8, MIA, MIA-RAB4B, MIR4323, MIR641, MIR6796, MIR6797, MIR8077, NUMBL, PAFAH1B3, PHLDB3, PINLYP, PLAUR, PLD3, POU2F2, PRG1, PRR19, PRX, PSG1, PSG10P, PSG11, PSG2, PSG3, PSG4, PSG5, PSG6, PSG7, PSG8, PSG9, RAB4B, RAB4B-EGLN2, RABAC1, RPS19, SERTAD1, SERTAD3, SHKBP1, SMG9, SNRPA, SPTBN4, SRRM5, TEX101, TGFB1, TMEM145, TMEM91, TTC9B, XRCC1, ZNF112, ZNF155, ZNF221, ZNF222, ZNF223, ZNF224, ZNF225, ZNF226, ZNF227, ZNF229, ZNF230, ZNF233, ZNF234, ZNF235, ZNF283, ZNF284, ZNF285, ZNF404, ZNF428, ZNF45, ZNF526, ZNF574, ZNF575, ZNF576
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6598416
Frequency
Sample Size19652
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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