A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5729573



Internal ID21755894
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:81252896..81252896hg38UCSC Ensembl
chr14:81719240..81719240hg19UCSC Ensembl
Cytoband14q31.1
Allele length
AssemblyAllele length
hg381309
hg191309
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17251849, nssv17252369
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)nsv5729573
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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