A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17243423



Internal ID21690932
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:99495094..99495094hg38UCSC Ensembl
chr5:98830798..98830798hg19UCSC Ensembl
Cytoband5q21.1
Allele length
AssemblyAllele length
hg381643
hg191643
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5715055
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)nssv17243423
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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