A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16916456



Internal ID11687
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:104929099..104933615hg38UCSC Ensembl
chr2:105545557..105550073hg19UCSC Ensembl
Cytoband2q12.1
Allele length
AssemblyAllele length
hg384517
hg194517
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5434842
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16916456
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.002342


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