A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5486558



Internal ID263920
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:56037377..56045097hg38UCSC Ensembl
chr8:56949936..56957656hg19UCSC Ensembl
Cytoband8q12.1
Allele length
AssemblyAllele length
hg387721
hg197721
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17011709
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5486558
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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