A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14419974



Internal ID22157365
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:38554325..38554325hg38UCSC Ensembl
chr19:39044965..39044965hg19UCSC Ensembl
Cytoband19q13.2
Allele length
AssemblyAllele length
hg38889
hg19889
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3522366
Supporting Variants
SamplesHG00514
Known GenesRYR1
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
CommentsInsertion of a AluS mobile element relative to the reference
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14419974
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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