A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17249972



Internal ID21697481
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:28323847..28323847hg38UCSC Ensembl
chr14:28793053..28793053hg19UCSC Ensembl
Cytoband14q12
Allele length
AssemblyAllele length
hg38441
hg19441
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5726485
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)nssv17249972
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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