A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14258106



Internal ID22253835
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr14:24521650..24527982hg38UCSC Ensembl
Outerchr14:24990856..24997188hg19UCSC Ensembl
Cytoband14q12
Allele length
AssemblyAllele length
hg386187
hg196187
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3236878
Supporting Variants
SamplesNA19238
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14258106
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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