A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3213117



Internal ID22360160
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:1765950..1766087hg38UCSC Ensembl
chr20:1746596..1746733hg19UCSC Ensembl
Cytoband20p13
Allele length
AssemblyAllele length
hg38138
hg19138
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv5147n152
Supporting Variantsnssv14433171
SamplesHG00514
Known Genes
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3213117
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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