A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3216824



Internal ID22362690
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr14:75396375..75411310hg38UCSC Ensembl
Outerchr14:75863078..75878013hg19UCSC Ensembl
Cytoband14q24.3
Allele length
AssemblyAllele length
hg3814936
hg1914936
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14258400
SamplesHG00513
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3216824
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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