A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14461253



Internal ID22213827
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:95409472..95409472hg38UCSC Ensembl
chr5:94745176..94745176hg19UCSC Ensembl
Cytoband5q15
Allele length
AssemblyAllele length
hg38155
hg19155
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3522499
Supporting Variants
SamplesHG00733
Known GenesFAM81B
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)nssv14461253
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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