A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14457352



Internal ID22251426
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:172466729..172466729hg38UCSC Ensembl
chr5:171893733..171893733hg19UCSC Ensembl
Cytoband5q35.1
Allele length
AssemblyAllele length
hg38333
hg19333
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3520415
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)nssv14457352
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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