A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5504067



Internal ID280877
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:56616694..56648898hg38UCSC Ensembl
chr14:57083412..57115616hg19UCSC Ensembl
Cytoband14q22.3
Allele length
AssemblyAllele length
hg3832205
hg1932205
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17696399
Samples
Known GenesTMEM260
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5504067
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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