A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14260163



Internal ID22119176
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:793227..910898hg38UCSC Ensembl
Outerchr16:843227..960898hg19UCSC Ensembl
Cytoband16p13.3
Allele length
AssemblyAllele length
hg3811065
hg1911065
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3243163
Supporting Variants
SamplesHG00512
Known GenesCHTF18, GNG13, LMF1, PRR25
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14260163
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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