A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18049411



Internal ID20616451
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:8084860..8086951hg38UCSC Ensembl
chr19:8149744..8151835hg19UCSC Ensembl
Cytoband19p13.2
Allele length
AssemblyAllele length
hg382092
hg192092
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6524803
Supporting Variants
Samples
Known GenesFBN3
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18049411
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.00028


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