A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5720058



Internal ID21746379
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:212978533..212978533hg38UCSC Ensembl
chr1:213151875..213151875hg19UCSC Ensembl
Cytoband1q32.3
Allele length
AssemblyAllele length
hg384205
hg194205
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17236992
Samples
Known GenesVASH2
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)nsv5720058
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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