A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5678735



Internal ID21705056
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:187793734..187793734hg38UCSC Ensembl
chr2:188658461..188658461hg19UCSC Ensembl
Cytoband2q32.1
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 Variantsnssv17208687, nssv17233029
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)nsv5678735
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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