A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16933806



Internal ID23277
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:49260051..49262137hg38UCSC Ensembl
chr3:49297484..49299570hg19UCSC Ensembl
Cytoband3p21.31
Allele length
AssemblyAllele length
hg382087
hg192087
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5446166
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16933806
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000156


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