A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16932692



Internal ID22518
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:48248258..48253360hg38UCSC Ensembl
chr3:48289748..48294850hg19UCSC Ensembl
Cytoband3p21.31
Allele length
AssemblyAllele length
hg385103
hg195103
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5437350
Supporting Variants
Samples
Known GenesZNF589
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16932692
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000156


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