A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14453017



Internal ID22247843
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:29416043..29416043hg38UCSC Ensembl
chr6:29383820..29383820hg19UCSC Ensembl
Cytoband6p22.1
Allele length
AssemblyAllele length
hg38363
hg19363
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3522734
Supporting Variants
SamplesHG00733
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)nssv14453017
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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