A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14378658



Internal ID22328168
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:62975200..62975200hg38UCSC Ensembl
chr16:63009104..63009104hg19UCSC Ensembl
Cytoband16q21
Allele length
AssemblyAllele length
hg38259
hg19259
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3520362
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)nssv14378658
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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