A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16971304



Internal ID48213
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:90037373..90037602hg38UCSC Ensembl
chr5:89333190..89333419hg19UCSC Ensembl
Cytoband5q14.3
Allele length
AssemblyAllele length
hg38230
hg19230
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5454660
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16971304
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000156


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