A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5480072



Internal ID257583
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:20273908..20280003hg38UCSC Ensembl
chr8:20131419..20137514hg19UCSC Ensembl
Cytoband8p21.3
Allele length
AssemblyAllele length
hg386096
hg196096
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17009147
Samples
Known GenesLZTS1-AS1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5480072
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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