A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14257268



Internal ID22314854
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 StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3216552
Supporting Variants
SamplesNA19240
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14257268
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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