A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17178275



Internal ID21625784
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 StatusS
Merged Variantsnsv5675565
Supporting Variants
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)nssv17178275
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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