A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17244882



Internal ID21692391
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:32937382..32937382hg38UCSC Ensembl
chr5:32937488..32937488hg19UCSC Ensembl
Cytoband5p13.3
Allele length
AssemblyAllele length
hg38450
hg19450
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5728957
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)nssv17244882
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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