A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5689874



Internal ID21716195
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:12101950..12101950hg38UCSC Ensembl
chr6:12102183..12102183hg19UCSC Ensembl
Cytoband6p24.1
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 Variantsnssv17177260, nssv17226146
Samples
Known GenesHIVEP1
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)nsv5689874
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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