A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv5409n152



Internal ID22821112
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:5558988..5688475hg38UCSC Ensembl
Cytoband
Allele length
AssemblyAllele length
hg38129488
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv3211164, nsv3228015
SamplesNA19240, HG00514
Known Genes
MethodMerging
Optical mapping
AnalysisBioNano Genomics proprietary analysis
PhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformBioNano Genomics
See merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)dgv5409n152
Frequency
Sample Size9
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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