A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14258986



Internal ID22276749
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr14:105218567..105241157hg38UCSC Ensembl
Outerchr14:105684904..105707494hg19UCSC Ensembl
Cytoband14q32.33
Allele length
AssemblyAllele length
hg385797
hg195797
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3248485
Supporting Variants
SamplesNA19239
Known GenesBRF1
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14258986
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer