A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14450995



Internal ID22246095
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:45166718..45166718hg38UCSC Ensembl
chr22:45562599..45562599hg19UCSC Ensembl
Cytoband22q13.31
Allele length
AssemblyAllele length
hg38125
hg19125
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3523770
Supporting Variants
SamplesHG00733
Known GenesNUP50
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)nssv14450995
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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