A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14262555



Internal ID22133924
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 StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3215281
Supporting Variants
SamplesHG00513
Known GenesDMPK, DMWD, SIX5
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14262555
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer