A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14385039



Internal ID22298665
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:64452863..64452863hg38UCSC Ensembl
chr14:64919581..64919581hg19UCSC Ensembl
Cytoband14q23.3
Allele length
AssemblyAllele length
hg38330
hg19330
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3522657
Supporting Variants
SamplesNA19240
Known GenesMIR548AZ, MTHFD1
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
CommentsInsertion of a AluY mobile element relative to the reference
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14385039
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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