A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17698014



Internal ID121680
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:49093675..49102713hg38UCSC Ensembl
chr14:49560393..49569431hg19UCSC Ensembl
Cytoband14q21.3
Allele length
AssemblyAllele length
hg389039
hg199039
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5513013
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17698014
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000625


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