A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5678477



Internal ID21704798
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:92386950..92386950hg38UCSC Ensembl
chr6:93096668..93096668hg19UCSC Ensembl
Cytoband6q15
Allele length
AssemblyAllele length
hg38131
hg19131
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17216862, nssv17178508
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)nsv5678477
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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