A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5726627



Internal ID21752948
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:63927961..63927961hg38UCSC Ensembl
chr1:64393632..64393632hg19UCSC Ensembl
Cytoband1p31.3
Allele length
AssemblyAllele length
hg382472
hg192472
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17239724
Samples
Known GenesROR1
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)nsv5726627
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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