A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5519837



Internal ID296179
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:16551939..16554587hg38UCSC Ensembl
chr21:17924259..17926907hg19UCSC Ensembl
Cytoband21q21.1
Allele length
AssemblyAllele length
hg382649
hg192649
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17734151
Samples
Known GenesLINC00478
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5519837
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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