A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14259962



Internal ID22201605
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:793227..965383hg38UCSC Ensembl
Outerchr16:843227..1015383hg19UCSC Ensembl
Cytoband16p13.3
Allele length
AssemblyAllele length
hg3842686
hg1942686
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3249708
Supporting Variants
SamplesHG00732
Known GenesCHTF18, GNG13, LMF1, PRR25
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14259962
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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