A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17240100



Internal ID21687609
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:115483576..115483576hg38UCSC Ensembl
chr5:114819273..114819273hg19UCSC Ensembl
Cytoband5q22.3
Allele length
AssemblyAllele length
hg381200
hg191200
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5720071
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)nssv17240100
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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