A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5490947



Internal ID268195
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:77340550..77347948hg38UCSC Ensembl
chr8:78252786..78260184hg19UCSC Ensembl
Cytoband8q21.11
Allele length
AssemblyAllele length
hg387399
hg197399
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17012286
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5490947
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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