A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5720184



Internal ID21746505
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:93641069..93641069hg38UCSC Ensembl
chr6:94350787..94350787hg19UCSC Ensembl
Cytoband6q16.1
Allele length
AssemblyAllele length
hg382351
hg192351
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17237572
Samples
Known Genes
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)nsv5720184
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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