A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3216970



Internal ID22362790
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:6512506..6518556hg38UCSC Ensembl
chr21:44540935..44546981hg19UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg386051
hg196047
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv5410n152
Supporting Variantsnssv14432737
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)nsv3216970
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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