A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5499087



Internal ID276067
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 StatusM
Merged Variants
Supporting Variantsnssv17696287
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5499087
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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