A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3520080



Internal ID22389489
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:132713193..132713193hg38UCSC Ensembl
chr8:133725439..133725439hg19UCSC Ensembl
Cytoband8q24.22
Allele length
AssemblyAllele length
hg38268
hg19268
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14462676
SamplesHG00733
Known GenesTMEM71
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)nsv3520080
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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