A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18248498



Internal ID20815538
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:55930883..58410519hg38UCSC Ensembl
chr19:56442249..58921886hg19UCSC Ensembl
Cytoband19q13.43
Allele length
AssemblyAllele length
hg382479637
hg192479638
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6597711
Supporting Variants
Samples
Known GenesA1BG, A1BG-AS1, AURKC, C19orf18, DUXA, FKBP1AP1, GALP, LOC100128398, LOC646862, MIMT1, MIR4754, MIR6806, NLRP13, NLRP5, NLRP8, PEG3, PEG3-AS1, RPS5, SMIM17, TRAPPC2P1, USP29, VN1R1, ZFP28, ZIK1, ZIM2, ZIM3, ZNF134, ZNF135, ZNF154, ZNF17, ZNF211, ZNF256, ZNF264, ZNF274, ZNF304, ZNF329, ZNF416, ZNF417, ZNF418, ZNF419, ZNF444, ZNF460, ZNF470, ZNF471, ZNF497, ZNF530, ZNF542, ZNF543, ZNF544, ZNF547, ZNF548, ZNF549, ZNF550, ZNF551, ZNF552, ZNF582, ZNF582-AS1, ZNF583, ZNF584, ZNF586, ZNF587, ZNF587B, ZNF606, ZNF667, ZNF667-AS1, ZNF671, ZNF71, ZNF749, ZNF772, ZNF773, ZNF776, ZNF787, ZNF8, ZNF805, ZNF814, ZNF835, ZNF837, ZSCAN1, ZSCAN18, ZSCAN22, ZSCAN4, ZSCAN5A, ZSCAN5B
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18248498
Frequency
Sample Size19652
Observed Gain0
Observed Loss0
Observed Complex0
Frequency0.00196


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