A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5727116



Internal ID21753437
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:55336271..55336271hg38UCSC Ensembl
chr1:55801944..55801944hg19UCSC Ensembl
Cytoband1p32.3
Allele length
AssemblyAllele length
hg384664
hg194664
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17245205
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)nsv5727116
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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