A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17212265



Internal ID21659774
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:87222666..87222666hg38UCSC Ensembl
chr5:86518483..86518483hg19UCSC Ensembl
Cytoband5q14.3
Allele length
AssemblyAllele length
hg38260
hg19260
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5682683
Supporting Variants
Samples
Known GenesLOC101929380
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)nssv17212265
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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