A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3226900



Internal ID22369550
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:83716751..83716810hg38UCSC Ensembl
chr8:84628986..84629045hg19UCSC Ensembl
Cytoband8q21.2
Allele length
AssemblyAllele length
hg3860
hg1960
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv9232n152
Supporting Variantsnssv14382964
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)nsv3226900
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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