A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3222181



Internal ID22366343
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 Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14390993, nssv14377247, nssv14381468, nssv14377406, nssv14373274, nssv14385686, nssv14382704, nssv14390743, nssv14379159
SamplesHG00512, NA19238, NA19239, HG00731, HG00732, NA19240, HG00733, HG00513, HG00514
Known GenesHBA1, HBA2
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3222181
Frequency
Sample Size9
Observed Gain9
Observed Loss0
Observed Complex0
Frequencyn/a


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