A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5726812



Internal ID21753133
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:124546681..124546681hg38UCSC Ensembl
chr5:123882374..123882374hg19UCSC Ensembl
Cytoband5q23.2
Allele length
AssemblyAllele length
hg384077
hg194077
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17244797
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)nsv5726812
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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