A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5678135



Internal ID21704456
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:59949229..59949229hg38UCSC Ensembl
chr2:60176364..60176364hg19UCSC Ensembl
Cytoband2p16.1
Allele length
AssemblyAllele length
hg38280
hg19280
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17203398, nssv17208142
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)nsv5678135
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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