A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5515872



Internal ID292345
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 StatusM
Merged Variants
Supporting Variantsnssv17704841
Samples
Known GenesGLYR1, UBN1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5515872
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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