A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16973576



Internal ID49769
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:108480785..108480860hg38UCSC Ensembl
chr5:107816486..107816561hg19UCSC Ensembl
Cytoband5q21.3
Allele length
AssemblyAllele length
hg3876
hg1976
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5459222
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16973576
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000312


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