A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5452067



Internal ID230229
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:81505421..81512290hg38UCSC Ensembl
chr3:81554572..81561441hg19UCSC Ensembl
Cytoband3p12.2
Allele length
AssemblyAllele length
hg386870
hg196870
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17734880
Samples
Known GenesGBE1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5452067
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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