A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16908449



Internal ID6421
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:97397725..97401016hg38UCSC Ensembl
chr1:97863281..97866572hg19UCSC Ensembl
Cytoband1p21.3
Allele length
AssemblyAllele length
hg383292
hg193292
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5432267
Supporting Variants
Samples
Known GenesDPYD
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16908449
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000625


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