A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5443259



Internal ID221659
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:87265575..87267998hg38UCSC Ensembl
chr3:87314725..87317148hg19UCSC Ensembl
Cytoband3p11.2
Allele length
AssemblyAllele length
hg382424
hg192424
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16935998
Samples
Known GenesPOU1F1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5443259
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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