A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14258912



Internal ID22231553
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr14:25138056..25169113hg38UCSC Ensembl
Outerchr14:25607262..25638319hg19UCSC Ensembl
Cytoband14q12
Allele length
AssemblyAllele length
hg3831058
hg1931058
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3225167
Supporting Variants
SamplesHG00733
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14258912
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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