A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18248493



Internal ID20815533
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:558351..1188654hg38UCSC Ensembl
chr19:558351..1188653hg19UCSC Ensembl
Cytoband19p13.3
Allele length
AssemblyAllele length
hg38630304
hg19630303
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6597832
Supporting Variants
Samples
Known GenesABCA7, ARID3A, AZU1, BSG, CFD, CNN2, ELANE, FGF22, FSTL3, GPX4, GRIN3B, HCN2, HMHA1, KISS1R, LPPR3, MED16, MIR3187, MIR4745, MISP, PALM, POLR2E, POLRMT, PRSS57, PRTN3, PTBP1, R3HDM4, RNF126, SBNO2, TMEM259, WDR18
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18248493
Frequency
Sample Size19652
Observed Gain0
Observed Loss0
Observed Complex0
Frequency0


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