A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5722981



Internal ID21749302
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:127123254..127123254hg38UCSC Ensembl
chr6:127444399..127444399hg19UCSC Ensembl
Cytoband6q22.33
Allele length
AssemblyAllele length
hg386019
hg196019
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17233755, nssv17237167
Samples
Known GenesRSPO3
MethodSequencing
AnalysisMobile Element Locator Tool (MELT)
Platform
CommentsInsertion of a L1 mobile element relative to the reference
ReferenceChuang_et_al_2021
Pubmed ID34772701
Accession Number(s)nsv5722981
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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