A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5530699



Internal ID306671
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:13390515..13394566hg38UCSC Ensembl
chr16:13484372..13488423hg19UCSC Ensembl
Cytoband16p13.12
Allele length
AssemblyAllele length
hg384052
hg194052
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17707934
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5530699
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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