A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14259534



Internal ID22259750
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:793227..882763hg38UCSC Ensembl
Outerchr16:843227..932763hg19UCSC Ensembl
Cytoband16p13.3
Allele length
AssemblyAllele length
hg385085
hg195085
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3233032
Supporting Variants
SamplesNA19238
Known GenesCHTF18, GNG13, LMF1, PRR25
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14259534
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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