A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18130238



Internal ID20697278
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:17290301..17298800hg38UCSC Ensembl
chr5:17290410..17298909hg19UCSC Ensembl
Cytoband5p15.1
Allele length
AssemblyAllele length
hg388500
hg198500
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6387457
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18130238
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.00043


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