A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5721946



Internal ID21748267
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:75213424..75213424hg38UCSC Ensembl
chr14:75680127..75680127hg19UCSC Ensembl
Cytoband14q24.3
Allele length
AssemblyAllele length
hg381315
hg191315
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17245819
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)nsv5721946
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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