A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14377247



Internal ID22265271
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
SamplesNA19238
Known GenesHBA1, HBA2
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14377247
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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