A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17242296



Internal ID21689805
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:47110319..47110319hg38UCSC Ensembl
chr6:47078055..47078055hg19UCSC Ensembl
Cytoband6p12.3
Allele length
AssemblyAllele length
hg386018
hg196018
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5724700
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)nssv17242296
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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