A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16972930



Internal ID49324
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:124994072..124994139hg38UCSC Ensembl
chr5:124329765..124329832hg19UCSC Ensembl
Cytoband5q23.2
Allele length
AssemblyAllele length
hg3868
hg1968
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5457692
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16972930
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000312


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