A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3220186



Internal ID22364959
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:61894851..61895950hg38UCSC Ensembl
chr18:59562084..59563183hg19UCSC Ensembl
Cytoband18q21.33
Allele length
AssemblyAllele length
hg381100
hg191100
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3884n152
Supporting Variantsnssv14406778
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)nsv3220186
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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