A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17693993



Internal ID117659
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:30485834..30492579hg38UCSC Ensembl
chr14:30955040..30961785hg19UCSC Ensembl
Cytoband14q12
Allele length
AssemblyAllele length
hg386746
hg196746
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5498696
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17693993
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000937


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