A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5724344



Internal ID21750665
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:80011999..80011999hg38UCSC Ensembl
chr8:80924234..80924234hg19UCSC Ensembl
Cytoband8q21.13
Allele length
AssemblyAllele length
hg38336
hg19336
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17243146, nssv17246960
Samples
Known GenesMRPS28
MethodSequencing
AnalysisMobile Element Locator Tool (MELT)
Platform
CommentsInsertion of a SVA mobile element relative to the reference
ReferenceChuang_et_al_2021
Pubmed ID34772701
Accession Number(s)nsv5724344
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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