A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5713199



Internal ID21739520
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:52022208..52022208hg38UCSC Ensembl
chr14:52488926..52488926hg19UCSC Ensembl
Cytoband14q22.1
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 Variantsnssv17194819, nssv17218523
Samples
Known GenesNID2
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)nsv5713199
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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