A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17240891



Internal ID21688400
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:52683504..52683504hg38UCSC Ensembl
chr5:51979338..51979338hg19UCSC Ensembl
Cytoband5q11.2
Allele length
AssemblyAllele length
hg385979
hg195979
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5716622
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)nssv17240891
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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