A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17694884



Internal ID118550
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:54370425..54370489hg38UCSC Ensembl
chr14:54837143..54837207hg19UCSC Ensembl
Cytoband14q22.2
Allele length
AssemblyAllele length
hg3865
hg1965
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5505591
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17694884
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000156


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