A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6424219



Internal ID21081772
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:79950984..79955294hg38UCSC Ensembl
chr8:80863219..80867529hg19UCSC Ensembl
Cytoband8q21.13
Allele length
AssemblyAllele length
hg384311
hg194311
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18171228
Samples
Known GenesMRPS28
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6424219
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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