A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5493048



Internal ID270240
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:87936751..87936827hg38UCSC Ensembl
chr10:89696508..89696584hg19UCSC Ensembl
Cytoband10q23.31
Allele length
AssemblyAllele length
hg3877
hg1977
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17038401
Samples
Known GenesPTEN
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5493048
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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