A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5700865



Internal ID21727186
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:75448247..75448247hg38UCSC Ensembl
chr14:75914950..75914950hg19UCSC Ensembl
Cytoband14q24.3
Allele length
AssemblyAllele length
hg38281
hg19281
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17196886, nssv17231776
Samples
Known GenesJDP2
MethodSequencing
AnalysisMobile Element Locator Tool (MELT)
Platform
CommentsInsertion of a Alu mobile element relative to the reference
ReferenceChuang_et_al_2021
Pubmed ID34772701
Accession Number(s)nsv5700865
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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