A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3214931



Internal ID22361429
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:28832511..29015728hg38UCSC Ensembl
Cytoband
Allele length
AssemblyAllele length
hg38183218
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv5220n152
Supporting Variantsnssv14452857, nssv14406665
SamplesNA19240, HG00733
Known Genes
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3214931
Frequency
Sample Size9
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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