A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17238391



Internal ID21685900
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:134865799..134865799hg38UCSC Ensembl
chr5:134201489..134201489hg19UCSC Ensembl
Cytoband5q31.1
Allele length
AssemblyAllele length
hg381288
hg191288
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5722298
Supporting Variants
Samples
Known Genes
MethodSequencing
AnalysisMobile Element Locator Tool (MELT)
Platform
CommentsInsertion of a SVA mobile element relative to the reference
ReferenceChuang_et_al_2021
Pubmed ID34772701
Accession Number(s)nssv17238391
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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