A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv5427n152



Internal ID22821130
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:9169943..9288394hg38UCSC Ensembl
Cytoband
Allele length
AssemblyAllele length
hg38118452
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv3240408
SamplesNA19240, HG00733, HG00514
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)dgv5427n152
Frequency
Sample Size9
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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