A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5715324



Internal ID21741645
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:81444123..81444123hg38UCSC Ensembl
chr14:81910467..81910467hg19UCSC Ensembl
Cytoband14q31.1
Allele length
AssemblyAllele length
hg38881
hg19881
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17251343
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)nsv5715324
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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