A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3226729



Internal ID22369437
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:2967628..2975880hg38UCSC Ensembl
Outerchr19:2967626..2975878hg19UCSC Ensembl
Cytoband19p13.3
Allele length
AssemblyAllele length
hg388253
hg198253
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14263295
SamplesNA19240
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3226729
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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