A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5682228



Internal ID21708549
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:28227350..28227350hg38UCSC Ensembl
chr7:28266969..28266969hg19UCSC Ensembl
Cytoband7p15.1
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 Variantsnssv17232532, nssv17180991
Samples
Known GenesJAZF1-AS1
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)nsv5682228
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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