A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14258895



Internal ID22193035
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr14:32016115..32027762hg38UCSC Ensembl
Outerchr14:32485321..32496968hg19UCSC Ensembl
Cytoband14q12
Allele length
AssemblyAllele length
hg3811648
hg1911648
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3211635
Supporting Variants
SamplesHG00731
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14258895
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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