A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5689245



Internal ID21715566
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:46738749..46738749hg38UCSC Ensembl
chr2:46965888..46965888hg19UCSC Ensembl
Cytoband2p21
Allele length
AssemblyAllele length
hg38278
hg19278
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17203158
Samples
Known GenesSOCS5
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)nsv5689245
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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