A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5675565



Internal ID21701886
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:126966479..126966479hg38UCSC Ensembl
chr5:126302171..126302171hg19UCSC Ensembl
Cytoband5q23.2
Allele length
AssemblyAllele length
hg38277
hg19277
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17178275, nssv17220583
Samples
Known GenesMARCH3
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)nsv5675565
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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