A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5496480



Internal ID273555
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:53849803..53851324hg38UCSC Ensembl
chr13:54423938..54425459hg19UCSC Ensembl
Cytoband13q14.3
Allele length
AssemblyAllele length
hg381522
hg191522
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17687884
Samples
Known GenesLINC00558
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5496480
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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