A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17696287



Internal ID119953
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:54539244..54539589hg38UCSC Ensembl
chr14:55005962..55006307hg19UCSC Ensembl
Cytoband14q22.2
Allele length
AssemblyAllele length
hg38346
hg19346
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5499087
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17696287
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000624


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