A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16924879



Internal ID17333
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:212694436..212708567hg38UCSC Ensembl
chr2:213559160..213573291hg19UCSC Ensembl
Cytoband2q34
Allele length
AssemblyAllele length
hg3814132
hg1914132
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5444745
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16924879
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000156


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