A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14259754



Internal ID22256416
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:30218143..30226547hg38UCSC Ensembl
Outerchr16:30229464..30237868hg19UCSC Ensembl
Cytoband16p11.2
Allele length
AssemblyAllele length
hg381759
hg191759
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3246870
Supporting Variants
SamplesNA19238
Known GenesLOC613037
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14259754
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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