A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16963112



Internal ID42734
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:20020409..20021607hg38UCSC Ensembl
chr5:20020518..20021716hg19UCSC Ensembl
Cytoband5p14.3
Allele length
AssemblyAllele length
hg381199
hg191199
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5468887
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16963112
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.001249


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