A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3220758



Internal ID22365366
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:12436807..12450597hg38UCSC Ensembl
Outerchr19:12547621..12561411hg19UCSC Ensembl
Cytoband19p13.2
Allele length
AssemblyAllele length
hg3813791
hg1913791
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14263582
SamplesNA19239
Known GenesZNF443
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3220758
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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