A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14262547



Internal ID22264324
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:41100175..41121519hg38UCSC Ensembl
Outerchr19:41606080..41627424hg19UCSC Ensembl
Cytoband19q13.2
Allele length
AssemblyAllele length
hg3821345
hg1921345
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3217120
Supporting Variants
SamplesNA19238
Known GenesCYP2F1
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14262547
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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