A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17239453



Internal ID21686962
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:146412814..146412814hg38UCSC Ensembl
chr3:146130601..146130601hg19UCSC Ensembl
Cytoband3q24
Allele length
AssemblyAllele length
hg381240
hg191240
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5720858
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)nssv17239453
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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