A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3219655



Internal ID22364609
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:78829993..78847503hg38UCSC Ensembl
chr18:76589993..76607503hg19UCSC Ensembl
Cytoband18q23
Allele length
AssemblyAllele length
hg3817511
hg1917511
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3976n152
Supporting Variantsnssv14465986
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)nsv3219655
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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