A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3216977



Internal ID22362797
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:60087704..60087844hg38UCSC Ensembl
chr20:58662759..58662899hg19UCSC Ensembl
Cytoband20q13.33
Allele length
AssemblyAllele length
hg38141
hg19141
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv5330n152
Supporting Variantsnssv14460045
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)nsv3216977
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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