A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16960775



Internal ID41163
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:51081..185761hg38UCSC Ensembl
chr5:51196..185876hg19UCSC Ensembl
Cytoband5p15.33
Allele length
AssemblyAllele length
hg38134681
hg19134681
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5464651
Supporting Variants
Samples
Known GenesPLEKHG4B
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16960775
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000468


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