A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5677767



Internal ID21704088
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:142785346..142785346hg38UCSC Ensembl
chr6:143106483..143106483hg19UCSC Ensembl
Cytoband6q24.2
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 Variantsnssv17179843, nssv17224155
Samples
Known GenesHIVEP2
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)nsv5677767
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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