A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5695882



Internal ID21722203
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:64452874..64452874hg38UCSC Ensembl
chr14:64919592..64919592hg19UCSC Ensembl
Cytoband14q23.3
Allele length
AssemblyAllele length
hg38247
hg19247
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17194833, nssv17221550
Samples
Known GenesMIR548AZ, MTHFD1
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)nsv5695882
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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