A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17704841



Internal ID128507
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:4827386..4874790hg38UCSC Ensembl
chr16:4877387..4924791hg19UCSC Ensembl
Cytoband16p13.3
Allele length
AssemblyAllele length
hg3847405
hg1947405
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5515872
Supporting Variants
Samples
Known GenesGLYR1, UBN1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17704841
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000312


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