A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5471148



Internal ID248892
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:108077448..108363858hg38UCSC Ensembl
chr5:107413149..107699559hg19UCSC Ensembl
Cytoband5q21.3
Allele length
AssemblyAllele length
hg38286411
hg19286411
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16972626
Samples
Known GenesFBXL17
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5471148
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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