A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14260727



Internal ID22301753
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:87078328..87083775hg38UCSC Ensembl
Outerchr16:87111934..87117381hg19UCSC Ensembl
Cytoband16q24.2
Allele length
AssemblyAllele length
hg382610
hg192610
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3239854
Supporting Variants
SamplesNA19240
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14260727
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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