A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5451393



Internal ID229576
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:60548996..60680006hg38UCSC Ensembl
chr3:60534729..60665739hg19UCSC Ensembl
Cytoband3p14.2
Allele length
AssemblyAllele length
hg38131011
hg19131011
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv347n206
Supporting Variantsnssv16934657
Samples
Known GenesFHIT
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5451393
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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