A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5725530



Internal ID21751851
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:46600152..46600152hg38UCSC Ensembl
chr14:47069355..47069355hg19UCSC Ensembl
Cytoband14q21.2
Allele length
AssemblyAllele length
hg38796
hg19796
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17248836
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)nsv5725530
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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