A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16972854



Internal ID49270
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:121490255..121516051hg38UCSC Ensembl
chr5:120825950..120851746hg19UCSC Ensembl
Cytoband5q23.1
Allele length
AssemblyAllele length
hg3825797
hg1925797
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5460062
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16972854
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000156


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