A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16924248



Internal ID16935
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:134798795..134799049hg38UCSC Ensembl
chr2:135556365..135556619hg19UCSC Ensembl
Cytoband2q21.3
Allele length
AssemblyAllele length
hg38255
hg19255
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5438734
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16924248
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000624


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