A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16977184



Internal ID52183
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:171808616..171809157hg38UCSC Ensembl
chr5:171235620..171236161hg19UCSC Ensembl
Cytoband5q35.1
Allele length
AssemblyAllele length
hg38542
hg19542
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5454050
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16977184
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000156


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