A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14257821



Internal ID22233179
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr14:81278035..81327063hg38UCSC Ensembl
Outerchr14:81744379..81793407hg19UCSC Ensembl
Cytoband14q31.1
Allele length
AssemblyAllele length
hg382642
hg192642
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3234241
Supporting Variants
SamplesHG00733
Known GenesSTON2
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14257821
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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