A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5508780



Internal ID285461
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:79943176..79943842hg38UCSC Ensembl
chr14:80409519..80410185hg19UCSC Ensembl
Cytoband14q31.1
Allele length
AssemblyAllele length
hg38667
hg19667
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17698958
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5508780
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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