A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3213278



Internal ID22360272
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:55205722..55215078hg38UCSC Ensembl
Outerchr19:55717090..55726446hg19UCSC Ensembl
Cytoband19q13.42
Allele length
AssemblyAllele length
hg389357
hg199357
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14263287, nssv14263288
SamplesNA19239, HG00513
Known GenesPTPRH
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3213278
Frequency
Sample Size9
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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