A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14262774



Internal ID22282415
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:40098543..40115165hg38UCSC Ensembl
Outerchr19:40604450..40621072hg19UCSC Ensembl
Cytoband19q13.2
Allele length
AssemblyAllele length
hg3816623
hg1916623
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3229867
Supporting Variants
SamplesNA19239
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14262774
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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