A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14374864



Internal ID22321352
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:78310286..78310286hg38UCSC Ensembl
chr10:80070043..80070043hg19UCSC Ensembl
Cytoband10q22.3
Allele length
AssemblyAllele length
hg38143
hg19143
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3520571
Supporting Variants
SamplesNA19240
Known Genes
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)nssv14374864
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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