A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18198064



Internal ID20765104
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:11376227..11385619hg38UCSC Ensembl
chr19:11486903..11496295hg19UCSC Ensembl
Cytoband19p13.2
Allele length
AssemblyAllele length
hg389393
hg199393
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6532177
Supporting Variants
Samples
Known GenesEPOR, SWSAP1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18198064
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0


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