A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5459104



Internal ID237122
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:5263428..5272518hg38UCSC Ensembl
chr5:5263541..5272631hg19UCSC Ensembl
Cytoband5p15.32
Allele length
AssemblyAllele length
hg389091
hg199091
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16960908
Samples
Known GenesADAMTS16
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5459104
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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