A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3221045



Internal ID22365565
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:39884439..39884535hg38UCSC Ensembl
chr20:38513081..38513177hg19UCSC Ensembl
Cytoband20q12
Allele length
AssemblyAllele length
hg3897
hg1997
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv5270n152
Supporting Variantsnssv14408838
SamplesNA19240
Known Genes
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3221045
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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