A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5681312



Internal ID21707633
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:1673972..1673972hg38UCSC Ensembl
chr6:1674206..1674206hg19UCSC Ensembl
Cytoband6p25.3
Allele length
AssemblyAllele length
hg38250
hg19250
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17215311, nssv17179116
Samples
Known GenesGMDS
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)nsv5681312
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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