A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5717398



Internal ID21743719
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:74964599..74964599hg38UCSC Ensembl
chr14:75431302..75431302hg19UCSC Ensembl
Cytoband14q24.3
Allele length
AssemblyAllele length
hg38736
hg19736
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17249215, nssv17242635
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)nsv5717398
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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