A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5716484



Internal ID21742805
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:57602974..57602974hg38UCSC Ensembl
chr3:57588701..57588701hg19UCSC Ensembl
Cytoband3p14.3
Allele length
AssemblyAllele length
hg381417
hg191417
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17249959
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)nsv5716484
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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