A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5484093



Internal ID261514
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:132752690..132753337hg38UCSC Ensembl
chr8:133764936..133765583hg19UCSC Ensembl
Cytoband8q24.22
Allele length
AssemblyAllele length
hg38648
hg19648
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17018682
Samples
Known GenesTMEM71
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5484093
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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