A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5675725



Internal ID21702046
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:104502353..104502353hg38UCSC Ensembl
chr2:105118811..105118811hg19UCSC Ensembl
Cytoband2q12.1
Allele length
AssemblyAllele length
hg38281
hg19281
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17210737, nssv17208189
Samples
Known GenesLINC01102
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)nsv5675725
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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