A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5685920



Internal ID21712241
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:16470227..16470227hg38UCSC Ensembl
chr5:16470336..16470336hg19UCSC Ensembl
Cytoband5p15.1
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 Variantsnssv17175969, nssv17212056
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)nsv5685920
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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