A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14454166



Internal ID22217074
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:25315134..25315134hg38UCSC Ensembl
chr8:25172650..25172650hg19UCSC Ensembl
Cytoband8p21.2
Allele length
AssemblyAllele length
hg38316
hg19316
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3520416
Supporting Variants
SamplesHG00733
Known GenesDOCK5
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)nssv14454166
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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