A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17236153



Internal ID21683662
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:139201663..139201663hg38UCSC Ensembl
chr5:138537352..138537352hg19UCSC Ensembl
Cytoband5q31.2
Allele length
AssemblyAllele length
hg38428
hg19428
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5722576
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)nssv17236153
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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