A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5691920



Internal ID21718241
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:54569946..54569946hg38UCSC Ensembl
chr7:54637639..54637639hg19UCSC Ensembl
Cytoband7p11.2
Allele length
AssemblyAllele length
hg38281
hg19281
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17182422
Samples
Known GenesLOC285878
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)nsv5691920
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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