A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18215478



Internal ID20782518
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:99489701..99493000hg38UCSC Ensembl
chr5:98825405..98828704hg19UCSC Ensembl
Cytoband5q21.1
Allele length
AssemblyAllele length
hg383300
hg193300
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6403316
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18215478
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.0004


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