A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16962859



Internal ID42562
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:16527953..16533188hg38UCSC Ensembl
chr5:16528062..16533297hg19UCSC Ensembl
Cytoband5p15.1
Allele length
AssemblyAllele length
hg385236
hg195236
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5459990
Supporting Variants
Samples
Known GenesFAM134B
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16962859
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000156


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