A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14381468



Internal ID22234671
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:169649..176715hg38UCSC Ensembl
chr16:219648..226714hg19UCSC Ensembl
Cytoband16p13.3
Allele length
AssemblyAllele length
hg387067
hg197067
Variant TypeCNV duplication
Copy Number4
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3222181
Supporting Variants
SamplesHG00733
Known GenesHBA1, HBA2
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14381468
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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