A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16917551



Internal ID12447
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:98739652..98739782hg38UCSC Ensembl
chr2:99356115..99356245hg19UCSC Ensembl
Cytoband2q11.2
Allele length
AssemblyAllele length
hg38131
hg19131
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5452111
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16917551
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000312


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