A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5718884



Internal ID21745205
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:77208642..77208642hg38UCSC Ensembl
chr8:78120878..78120878hg19UCSC Ensembl
Cytoband8q21.11
Allele length
AssemblyAllele length
hg38209
hg19209
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17250174
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)nsv5718884
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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