A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5675288



Internal ID21701609
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:21691339..21691339hg38UCSC Ensembl
chr2:21914211..21914211hg19UCSC Ensembl
Cytoband2p24.1
Allele length
AssemblyAllele length
hg38258
hg19258
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17205977, nssv17198324
Samples
Known GenesLOC645949
MethodSequencing
AnalysisMobile Element Locator Tool (MELT)
Platform
CommentsInsertion of a Alu mobile element relative to the reference
ReferenceChuang_et_al_2021
Pubmed ID34772701
Accession Number(s)nsv5675288
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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