A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14257982



Internal ID22200966
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr14:104211914..104236110hg38UCSC Ensembl
Outerchr14:104678251..104702447hg19UCSC Ensembl
Cytoband14q32.33
Allele length
AssemblyAllele length
hg381708
hg191708
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3231755
Supporting Variants
SamplesHG00732
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14257982
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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