A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18248497



Internal ID20815537
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:55930699..58410630hg38UCSC Ensembl
chr19:56442065..58921997hg19UCSC Ensembl
Cytoband19q13.43
Allele length
AssemblyAllele length
hg382479932
hg192479933
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6597167
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)nssv18248497
Frequency
Sample Size19652
Observed Gain0
Observed Loss0
Observed Complex0
Frequency0.00203


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