A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14258988



Internal ID22304889
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr14:105226516..105283392hg38UCSC Ensembl
Outerchr14:105692853..105749729hg19UCSC Ensembl
Cytoband14q32.33
Allele length
AssemblyAllele length
hg3811044
hg1911044
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3238697
Supporting Variants
SamplesNA19240
Known GenesBRF1, BTBD6
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14258988
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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