A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16933424



Internal ID23021
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:50305531..50310496hg38UCSC Ensembl
chr3:50342962..50347927hg19UCSC Ensembl
Cytoband3p21.31
Allele length
AssemblyAllele length
hg384966
hg194966
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5447091
Supporting Variants
Samples
Known GenesHYAL1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16933424
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.022011


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