A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14429653



Internal ID22171451
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:124309988..124309988hg38UCSC Ensembl
chr8:125322229..125322229hg19UCSC Ensembl
Cytoband8q24.13
Allele length
AssemblyAllele length
hg38108
hg19108
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3522000
Supporting Variants
SamplesHG00514
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)nssv14429653
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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