A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5518278



Internal ID294674
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:16353808..16362000hg38UCSC Ensembl
chr21:17726129..17734321hg19UCSC Ensembl
Cytoband21q21.1
Allele length
AssemblyAllele length
hg388193
hg198193
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17734141
Samples
Known GenesLINC00478
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5518278
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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