A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14370329



Internal ID22316942
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:64452874..64452874hg38UCSC Ensembl
chr14:64919592..64919592hg19UCSC Ensembl
Cytoband14q23.3
Allele length
AssemblyAllele length
hg38279
hg19279
Variant TypeCNV alu insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3560360
Supporting Variants
SamplesNA19240
Known GenesMIR548AZ, MTHFD1
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
CommentsInsertion of a Alu mobile element relative to the reference
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14370329
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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