A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18215164



Internal ID20782204
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:180903101..180911100hg38UCSC Ensembl
chr5:180330101..180338100hg19UCSC Ensembl
Cytoband5q35.3
Allele length
AssemblyAllele length
hg388000
hg198000
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6415309
Supporting Variants
Samples
Known GenesBTNL8
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18215164
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0


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