A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5498089



Internal ID275095
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:49919163..49919491hg38UCSC Ensembl
chr14:50385881..50386209hg19UCSC Ensembl
Cytoband14q21.3
Allele length
AssemblyAllele length
hg38329
hg19329
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17696682
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5498089
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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