A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14262967



Internal ID22257253
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:553008..621535hg38UCSC Ensembl
Outerchr19:553008..621535hg19UCSC Ensembl
Cytoband19p13.3
Allele length
AssemblyAllele length
hg384636
hg194636
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3245513
Supporting Variants
SamplesNA19238
Known GenesBSG, HCN2, POLRMT
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14262967
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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