A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16920016



Internal ID14126
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:128063619..128069541hg38UCSC Ensembl
chr2:128821193..128827115hg19UCSC Ensembl
Cytoband2q14.3
Allele length
AssemblyAllele length
hg385923
hg195923
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5451206
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16920016
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.001562


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