A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17247420



Internal ID21694929
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:74253532..74253532hg38UCSC Ensembl
chr6:74963248..74963248hg19UCSC Ensembl
Cytoband6q13
Allele length
AssemblyAllele length
hg381080
hg191080
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5716298
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)nssv17247420
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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