A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17210995



Internal ID21658504
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:69015927..69015927hg38UCSC Ensembl
chr5:68311754..68311754hg19UCSC Ensembl
Cytoband5q13.1
Allele length
AssemblyAllele length
hg3892
hg1992
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5681579
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)nssv17210995
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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