A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5721101



Internal ID21747422
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:89118578..89118578hg38UCSC Ensembl
chr1:89584261..89584261hg19UCSC Ensembl
Cytoband1p22.2
Allele length
AssemblyAllele length
hg38976
hg19976
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17244686, nssv17237930
Samples
Known GenesGBP2
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)nsv5721101
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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