A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5722187



Internal ID21748508
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:115901886..115901886hg38UCSC Ensembl
chr6:116223050..116223050hg19UCSC Ensembl
Cytoband6q22.1
Allele length
AssemblyAllele length
hg38719
hg19719
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17252970
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)nsv5722187
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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