A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5518682



Internal ID295056
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:3054525..3074078hg38UCSC Ensembl
chr16:3104526..3124079hg19UCSC Ensembl
Cytoband16p13.3
Allele length
AssemblyAllele length
hg3819554
hg1919554
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17705399
Samples
Known GenesIL32, MMP25
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5518682
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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