A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5557045



Internal ID330161
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:81010879..81010930hg38UCSC Ensembl
chr14:81477223..81477274hg19UCSC Ensembl
Cytoband14q31.1
Allele length
AssemblyAllele length
hg386018
hg196018
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17699010
Samples
Known GenesTSHR
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5557045
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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