A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5725428



Internal ID21751749
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:180378953..180378953hg38UCSC Ensembl
chr2:181243680..181243680hg19UCSC Ensembl
Cytoband2q31.3
Allele length
AssemblyAllele length
hg3881
hg1981
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17236797, nssv17234956
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)nsv5725428
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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