A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3215281



Internal ID22361667
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:45763465..45783390hg38UCSC Ensembl
Outerchr19:46266723..46286648hg19UCSC Ensembl
Cytoband19q13.32
Allele length
AssemblyAllele length
hg3819926
hg1919926
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14262558, nssv14262557, nssv14262556, nssv14262555
SamplesNA19238, NA19239, HG00731, HG00513
Known GenesDMPK, DMWD, SIX5
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3215281
Frequency
Sample Size9
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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