A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14390077



Internal ID22302207
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:129585420..129585420hg38UCSC Ensembl
chr11:129455315..129455315hg19UCSC Ensembl
Cytoband11q24.3
Allele length
AssemblyAllele length
hg38228
hg19228
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3519942
Supporting Variants
SamplesNA19240
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)nssv14390077
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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