A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5681288



Internal ID21707609
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:21584961..21584961hg38UCSC Ensembl
chr7:21624579..21624579hg19UCSC Ensembl
Cytoband7p15.3
Allele length
AssemblyAllele length
hg38269
hg19269
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17181612, nssv17218694
Samples
Known GenesDNAH11
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)nsv5681288
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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