A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14376972



Internal ID22323495
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:134055477..134055477hg38UCSC Ensembl
chr11:133925372..133925372hg19UCSC Ensembl
Cytoband11q25
Allele length
AssemblyAllele length
hg38165
hg19165
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3520449
Supporting Variants
SamplesNA19240
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)nssv14376972
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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