A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14259207



Internal ID22145197
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:24848111..24892299hg38UCSC Ensembl
Outerchr16:24859432..24903620hg19UCSC Ensembl
Cytoband16p12.1
Allele length
AssemblyAllele length
hg382742
hg192742
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3248836
Supporting Variants
SamplesHG00514
Known GenesSLC5A11
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14259207
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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