A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17246556



Internal ID21694065
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:53358471..53358471hg38UCSC Ensembl
chr3:53392498..53392498hg19UCSC Ensembl
Cytoband3p21.1
Allele length
AssemblyAllele length
hg381312
hg191312
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5725765
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)nssv17246556
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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