A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14260122



Internal ID22322155
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:8062255..8119062hg38UCSC Ensembl
Outerchr16:8112257..8169064hg19UCSC Ensembl
Cytoband16p13.2
Allele length
AssemblyAllele length
hg383028
hg193028
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3245821
Supporting Variants
SamplesNA19240
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14260122
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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