A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16908453



Internal ID6424
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:97470271..97470379hg38UCSC Ensembl
chr1:97935827..97935935hg19UCSC Ensembl
Cytoband1p21.3
Allele length
AssemblyAllele length
hg38109
hg19109
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5416784
Supporting Variants
Samples
Known GenesDPYD
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16908453
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.002342


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