A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5681307



Internal ID21707628
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:49685840..49685840hg38UCSC Ensembl
chr6:49653553..49653553hg19UCSC Ensembl
Cytoband6p12.3
Allele length
AssemblyAllele length
hg38106
hg19106
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17180304, nssv17225679
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)nsv5681307
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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