A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14258014



Internal ID22118462
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr14:105228893..105252245hg38UCSC Ensembl
Outerchr14:105695230..105718582hg19UCSC Ensembl
Cytoband14q32.33
Allele length
AssemblyAllele length
hg382112
hg192112
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3250189
Supporting Variants
SamplesHG00512
Known GenesBRF1, BTBD6
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14258014
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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