A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3223727



Internal ID22367411
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:43196214..43196655hg38UCSC Ensembl
chr20:41824854..41825295hg19UCSC Ensembl
Cytoband20q13.11
Allele length
AssemblyAllele length
hg38442
hg19442
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv5272n152
Supporting Variantsnssv14454731
SamplesHG00733
Known Genes
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3223727
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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