A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5459250



Internal ID237267
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:108323662..108336002hg38UCSC Ensembl
chr5:107659363..107671703hg19UCSC Ensembl
Cytoband5q21.3
Allele length
AssemblyAllele length
hg3812341
hg1912341
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16973564
Samples
Known GenesFBXL17
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5459250
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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