A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5690547



Internal ID21716868
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:48317625..48317625hg38UCSC Ensembl
chr2:48544764..48544764hg19UCSC Ensembl
Cytoband2p16.3
Allele length
AssemblyAllele length
hg38279
hg19279
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17203214
Samples
Known GenesFOXN2
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)nsv5690547
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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