A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17212821



Internal ID21660330
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:4488535..4488535hg38UCSC Ensembl
chr5:4488648..4488648hg19UCSC Ensembl
Cytoband5p15.33
Allele length
AssemblyAllele length
hg3877
hg1977
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5694257
Supporting Variants
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)nssv17212821
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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