A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14445191



Internal ID22226166
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr15:80355808..80355808hg38UCSC Ensembl
chr15:80648150..80648150hg19UCSC Ensembl
Cytoband15q25.1
Allele length
AssemblyAllele length
hg3894
hg1994
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3522956
Supporting Variants
SamplesHG00733
Known Genes
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)nssv14445191
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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