A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17708993



Internal ID132659
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:51239706..51239889hg38UCSC Ensembl
chr16:51273617..51273800hg19UCSC Ensembl
Cytoband16q12.1
Allele length
AssemblyAllele length
hg38184
hg19184
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5526910
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17708993
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000156


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