A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5690246



Internal ID21716567
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:102980998..102980998hg38UCSC Ensembl
chr2:103597456..103597456hg19UCSC Ensembl
Cytoband2q12.1
Allele length
AssemblyAllele length
hg3865
hg1965
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17210676
Samples
Known Genes
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)nsv5690246
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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