A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5517406



Internal ID293830
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:22799945..22882182hg38UCSC Ensembl
chr16:22811266..22893503hg19UCSC Ensembl
Cytoband16p12.2
Allele length
AssemblyAllele length
hg3882238
hg1982238
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17705763
Samples
Known GenesHS3ST2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5517406
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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