A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14260048



Internal ID22222184
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:845823..928866hg38UCSC Ensembl
Outerchr16:895823..978866hg19UCSC Ensembl
Cytoband16p13.3
Allele length
AssemblyAllele length
hg383684
hg193684
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3245331
Supporting Variants
SamplesHG00733
Known GenesLMF1
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14260048
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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