A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17244452



Internal ID21691961
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:24329626..24329626hg38UCSC Ensembl
chr5:24329735..24329735hg19UCSC Ensembl
Cytoband5p14.2
Allele length
AssemblyAllele length
hg38578
hg19578
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5715465
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)nssv17244452
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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