A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5725863



Internal ID21752184
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:124546689..124546689hg38UCSC Ensembl
chr5:123882382..123882382hg19UCSC Ensembl
Cytoband5q23.2
Allele length
AssemblyAllele length
hg384162
hg194162
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17242509
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)nsv5725863
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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