A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3216552



Internal ID22362511
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr14:40125189..40176698hg38UCSC Ensembl
Outerchr14:40594393..40645902hg19UCSC Ensembl
Cytoband14q21.1
Allele length
AssemblyAllele length
hg3851510
hg1951510
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14257265, nssv14257266, nssv14257264, nssv14257267, nssv14257268
SamplesNA19239, HG00732, NA19240, HG00733, HG00513
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3216552
Frequency
Sample Size9
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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