A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3248485



Internal ID22376999
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 State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14258985, nssv14258984, nssv14258986
SamplesNA19239, HG00732, HG00733
Known GenesBRF1
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3248485
Frequency
Sample Size9
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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