A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5493306



Internal ID270491
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:84178293..84181687hg38UCSC Ensembl
chr8:85090528..85093922hg19UCSC Ensembl
Cytoband8q21.2
Allele length
AssemblyAllele length
hg383395
hg193395
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17014139
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5493306
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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