A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5727321



Internal ID21753642
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:115531965..115531965hg38UCSC Ensembl
chr1:116074586..116074586hg19UCSC Ensembl
Cytoband1p13.2
Allele length
AssemblyAllele length
hg386018
hg196018
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17251913
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)nsv5727321
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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