A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17709392



Internal ID133058
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:47883552..47883629hg38UCSC Ensembl
chr16:47917463..47917540hg19UCSC Ensembl
Cytoband16q12.1
Allele length
AssemblyAllele length
hg3878
hg1978
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5529075
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17709392
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000156


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