A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16984847



Internal ID57283
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:47287377..47287444hg38UCSC Ensembl
chr6:47255113..47255180hg19UCSC Ensembl
Cytoband6p12.3
Allele length
AssemblyAllele length
hg3868
hg1968
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5459094
Supporting Variants
Samples
Known GenesTNFRSF21
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16984847
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000781


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