A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14384095



Internal ID22321741
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:75032863..75032863hg38UCSC Ensembl
chr14:75499566..75499566hg19UCSC Ensembl
Cytoband14q24.3
Allele length
AssemblyAllele length
hg38324
hg19324
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3520804
Supporting Variants
SamplesNA19240
Known GenesMLH3
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)nssv14384095
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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