A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14260039



Internal ID22184013
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:845823..957730hg38UCSC Ensembl
Outerchr16:895823..1007730hg19UCSC Ensembl
Cytoband16p13.3
Allele length
AssemblyAllele length
hg389904
hg199904
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3247715
Supporting Variants
SamplesHG00731
Known GenesLMF1
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14260039
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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