A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17239496



Internal ID21687005
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:28645370..28645370hg38UCSC Ensembl
chr14:29114576..29114576hg19UCSC Ensembl
Cytoband14q12
Allele length
AssemblyAllele length
hg381240
hg191240
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5715330
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)nssv17239496
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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