A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17696310



Internal ID119976
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:54903940..54903940hg38UCSC Ensembl
chr14:55370658..55370658hg19UCSC Ensembl
Cytoband14q22.2
Allele length
AssemblyAllele length
hg38674
hg19674
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5551853
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17696310
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.014872


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