A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5458988



Internal ID237007
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:66904511..66905842hg38UCSC Ensembl
chr5:66200339..66201670hg19UCSC Ensembl
Cytoband5q12.3
Allele length
AssemblyAllele length
hg381332
hg191332
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16966145
Samples
Known GenesMAST4
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5458988
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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