A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5486218



Internal ID263588
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:98446132..98446182hg38UCSC Ensembl
chr10:100205889..100205939hg19UCSC Ensembl
Cytoband10q24.2
Allele length
AssemblyAllele length
hg3851
hg1951
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17039828
Samples
Known GenesHPS1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5486218
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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