A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17241008



Internal ID21688517
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:5891941..5891941hg38UCSC Ensembl
chr6:5892174..5892174hg19UCSC Ensembl
Cytoband6p25.1
Allele length
AssemblyAllele length
hg385570
hg195570
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5718947
Supporting Variants
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)nssv17241008
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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