A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14257976



Internal ID22221520
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr14:104211914..104260505hg38UCSC Ensembl
Outerchr14:104678251..104726842hg19UCSC Ensembl
Cytoband14q32.33
Allele length
AssemblyAllele length
hg381288
hg191288
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3244501
Supporting Variants
SamplesHG00733
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14257976
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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