A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17247053



Internal ID21694562
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:73943384..73943384hg38UCSC Ensembl
chr14:74410087..74410087hg19UCSC Ensembl
Cytoband14q24.3
Allele length
AssemblyAllele length
hg38368
hg19368
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5720542
Supporting Variants
Samples
Known GenesFAM161B
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)nssv17247053
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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