A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5693391



Internal ID21719712
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:124281511..124281511hg38UCSC Ensembl
chr7:123921565..123921565hg19UCSC Ensembl
Cytoband7q31.33
Allele length
AssemblyAllele length
hg38136
hg19136
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17183142
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)nsv5693391
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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